Entity rating | Entity | Mode of inheritance | Mode of pathogenicity | Tags |
---|---|---|---|---|
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | gene-therapy-trial |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | watchlist_moi |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | Skewed X-inactivation |
Green | Congenital myopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Distal myopathies | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | gene-checked |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | Other | new-gene-name |
Green | Distal myopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Other | nucleotide-repeat-expansion |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | missense |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | treatable |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | treatable |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | mosaicism |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | gene-checked |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Distal myopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | missense |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Distal myopathies STR | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | STR |
Green | Congenital myopathy STR | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | STR |
Green | Paediatric motor neuronopathies STR | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | STR |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | gene-checked |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | new-gene-name |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | new-gene-name |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | nucleotide-repeat-expansion |
Green | Paediatric motor neuronopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | Other | currently-not-available-via-GLH-non-WGS-testing |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | treatable |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Likely inborn error of metabolism | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | new-gene-name |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Distal myopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | treatable |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | currently-not-available-via-GLH-non-WGS-testing |
Green | Paediatric motor neuronopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | watchlist_moi |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | gene-checked |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Other | N/A |
Green | Congenital myopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | watchlist_moi |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | gene-checked |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | Q2_23_MOI |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | gene-checked |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Other | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Paediatric motor neuronopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myaesthenic syndrome | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Other | N/A |
Green | Congenital myaesthenic syndrome | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Other | deletions |
Green | Congenital myaesthenic syndrome | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Other | N/A |
Green | Congenital myaesthenic syndrome | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Other | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | founder-effect |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Distal myopathies STR | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | STR |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal | N/A | treatable |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | Other | currently-not-available-via-GLH-non-WGS-testing, treatable |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | Other | currently-not-available-via-GLH-non-WGS-testing |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | new-gene-name |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal | N/A | treatable |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Distal myopathies | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | gene-checked |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | gene-checked |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | Other | nucleotide-repeat-expansion |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | missense |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | Skewed X-inactivation, new-gene-name, gene-checked |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | treatable |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | watchlist_moi |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | loss-of-function (truncating variants and curated list of variants) | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | gene-checked |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Distal myopathies | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Other | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | non-coding-known-pathogenic, deletions |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | microduplication |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Congenital muscular dystrophy | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | gene-therapy-trial, Skewed X-inactivation |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | gene-therapy-trial, Skewed X-inactivation |
Green | Rhabdomyolysis and metabolic muscle disorders | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | gene-therapy-trial, Skewed X-inactivation |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | gene-therapy-trial, Skewed X-inactivation |
Green | Congenital myopathy STR | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | STR |
Green | Likely inborn error of metabolism STR | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | STR |
Green | Intellectual disability STR | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | STR |
Green | Congenital muscular dystrophy STR | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | STR |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | Other | currently-not-available-via-GLH-non-WGS-testing |
Green | Distal myopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Other | N/A |
Green | Congenital myopathy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | missense, watchlist_moi |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Distal myopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Other | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal | N/A | treatable |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | dominant-negative |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | currently-not-available-via-GLH-non-WGS-testing |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | pharmacogenetics |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Congenital muscular dystrophy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Other | currently-not-available-via-GLH-non-WGS-testing |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric motor neuronopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Distal myopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | missense |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | nucleotide-repeat-expansion |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Congenital muscular dystrophy | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | currently-not-available-via-GLH-non-WGS-testing, Skewed X-inactivation |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric motor neuronopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Other | gene-checked |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Likely inborn error of metabolism | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Distal myopathies | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | structural-variant |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Distal myopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Other | nucleotide-repeat-expansion |
Green | Intellectual disability STR | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | STR |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | ngs-false-positive-region |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | nucleotide-repeat-expansion |
Green | Likely inborn error of metabolism STR | BIALLELIC, autosomal or pseudoautosomal | N/A | STR |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | missense |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | missense |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Likely inborn error of metabolism | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | new-gene-name |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | Other | currently-not-available-via-GLH-non-WGS-testing |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | Autism Spectrum Disorder |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | STR, watchlist_moi |
Green | Likely inborn error of metabolism | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | treatable |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | mosaicism |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Distal myopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | currently-not-available-via-GLH-non-WGS-testing |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | currently-not-available-via-GLH-non-WGS-testing |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | Skewed X-inactivation |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | watchlist_moi |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | new-gene-name |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | new-gene-name |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | new-gene-name |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | new-gene-name |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | new-gene-name |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | missense |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Congenital myopathy | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Distal myopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Distal myopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Likely inborn error of metabolism | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Paediatric motor neuronopathies | BIALLELIC, autosomal or pseudoautosomal | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability 5p15 terminal (Cri du chat syndrome) region Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Gain region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) Gain region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 2q37.3 terminal region (includes HDAC4) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 15q24 recurrent region (A-D) (includes SIN3A) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) Gain region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 16p11.2 recurrent region (includes TBX6) (proximal region) (BP4-BP5) Gain region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 16p11.2 recurrent region (includes TBX6) (proximal region) (BP4-BP5) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 11p13 (WAGR syndrome) region Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Gain region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Paediatric motor neuronopathies 15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 2q13 recurrent region (includes NPHP1) Loss region | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability 16p13.3 region (includes CREBBP) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Congenital myopathy 2p15p16.1 region (includes BCL11A) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Paediatric motor neuronopathies 2p15p16.1 region (includes BCL11A) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 2p15p16.1 region (includes BCL11A) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 16p13.11 recurrent region (includes MYH11) Gain region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 16p13.11 recurrent region (includes MYH11) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 17p11.2 recurrent (SMS/PLS) region (includes RAI1) Gain region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Congenital myopathy 17q21.3 recurrent region (includes KANSL1) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Paediatric motor neuronopathies 17q21.3 recurrent region (includes KANSL1) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 17q21.3 recurrent region (includes KANSL1) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) Gain region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 8p23.1 recurrent region (includes GATA4) Gain region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 8p23.1 recurrent region (includes GATA4) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 10q22.3q23.2 recurrent region (LCR-3/4-flanked) (includes BMPR1A) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 5q35 recurrent (Sotos syndrome) region (includes NSD1) Gain region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 5q35 recurrent (Sotos syndrome) region (includes NSD1) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Paediatric motor neuronopathies 4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Congenital myopathy 4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Gain region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 17q11.2 recurrent region (includes NF1) Gain region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 17q11.2 recurrent region (includes NF1) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 17q12 recurrent (RCAD syndrome) region (includes HNF1B) Gain region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Gain region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 1p36 terminal region (includes GABRD) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability Xq28 recurrent region (includes GDI1) Gain region | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Likely inborn error of metabolism 2p21 region (includes PREPL and SLC3A1) Loss region | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability 2p21 region (includes PREPL and SLC3A1) Loss region | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability 11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 3q29 recurrent region (includes DLG1) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Gain region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability Xp11.23 region (includes MAOA and MAOB) Loss region | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Paediatric motor neuronopathies 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 16p11.2 recurrent region (includes SH2B1) (distal region) (BP2-BP3) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 1q43q44 terminal region (includes AKT3) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) Gain region | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) Loss region | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability 2q11.2 recurrent region (includes ARID5A, TMEM127) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 15q25.2 recurrent region (LCR B-C, proximal) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability Xp11.22p11.23 recurrent region (includes SHROOM4) Gain region | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability 22q11.2 recurrent region (distal type III, D-G/H) (includes SMARCB1) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 16p12.2 recurrent region (distal)(includes OTOA) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability Xp11.22 region (includes HUWE1) Gain region | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability Xq28 region (includes MECP2) Gain region | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability 3q24 Region (includes ZIC1) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability 7p22.1 region (includes ACTB) Loss region | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability Xq25 region (includes STAG2) Gain region | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability Xq25 region (includes STAG2) Loss region | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | non-coding-known-pathogenic |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | non-coding-known-pathogenic |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | missense |
Green | Congenital myopathy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | missense |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | gene-checked |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) | Other | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | gene-checked |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | gene-checked |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | currently-not-available-via-GLH-non-WGS-testing |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Distal myopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | currently-not-available-via-GLH-non-WGS-testing |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | gene-checked |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | gene-checked |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) | N/A | N/A |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Other | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Distal myopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | Skewed X-inactivation |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | founder-effect |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | currently-not-available-via-GLH-non-WGS-testing |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | gene-checked, new-gene-name |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | Q1_24_MOI |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked |
Green | Rhabdomyolysis and metabolic muscle disorders | MITOCHONDRIAL | N/A | gene-checked |
Green | Rhabdomyolysis and metabolic muscle disorders | MITOCHONDRIAL | N/A | gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked, locus-type-rna-ribosomal |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked, locus-type-rna-transfer |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked, locus-type-rna-transfer |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | locus-type-rna-transfer, gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | locus-type-rna-transfer, gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked, locus-type-rna-transfer |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked, locus-type-rna-transfer |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | locus-type-rna-transfer, gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked, locus-type-rna-transfer |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | locus-type-rna-transfer, gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked, locus-type-rna-transfer |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked, locus-type-rna-transfer |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | locus-type-rna-transfer, gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked, locus-type-rna-transfer |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked, locus-type-rna-transfer |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked, locus-type-rna-transfer |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked, locus-type-rna-transfer |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | locus-type-rna-transfer, gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | locus-type-rna-transfer, gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | locus-type-rna-transfer, gene-checked |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked, locus-type-rna-transfer |
Green | Likely inborn error of metabolism | MITOCHONDRIAL | N/A | gene-checked, locus-type-rna-transfer |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | mosaicism, missense, somatic |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | new-gene-name |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal | N/A | deletions |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | Congenital myopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Distal myopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Congenital myopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | Q4_22_MOI |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Distal myopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | missense |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | watchlist_moi |
Green | Distal myopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | deletions |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | treatable |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | missense |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | Autism Spectrum Disorder |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Congenital myopathy | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | missense |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | gene-therapy-trial |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | missense |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | founder-effect |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | mosaicism, x-linked-over-dominance, somatic |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | deletions |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Other | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | deletions |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | Skewed X-inactivation |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | Skewed X-inactivation |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | Autism Spectrum Disorder |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | non-coding-known-pathogenic, promoter |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | missense |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Other | mosaicism, somatic |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myaesthenic syndrome | BIALLELIC, autosomal or pseudoautosomal | N/A | monogenic-polygenic |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | currently-not-available-via-GLH-non-WGS-testing |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | gene-checked |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Likely inborn error of metabolism | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | gene-checked |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | gene-checked |
Green | Likely inborn error of metabolism | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Likely inborn error of metabolism | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | microdeletion |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Rhabdomyolysis and metabolic muscle disorders | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital myopathy | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Congenital muscular dystrophy | BIALLELIC, autosomal or pseudoautosomal | Other | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Likely inborn error of metabolism | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | gene-checked |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | N/A |
Green | Intellectual disability | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A |
Green | Intellectual disability | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A |
Green |