Entity rating | Entity | Mode of inheritance | Mode of pathogenicity | Tags |
---|---|---|---|---|
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | to_be_confirmed_NHSE | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | 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 | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | gene-checked | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | new-gene-name | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | STR | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | STR |
Green | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Loss-of-function variants DO NOT cause this phenotype | gene-checked | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | nucleotide-repeat-expansion | |
Green | STR | BIALLELIC, autosomal or pseudoautosomal | N/A | STR |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | missense | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | nucleotide-repeat-expansion | |
Green | STR | BIALLELIC, autosomal or pseudoautosomal | N/A | STR |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Other | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | Q3_23_demote_red, Q3_23_expert_review | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | 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 | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | Q3_23_expert_review, Q3_23_demote_red | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | 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 | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | Q1_24_demote_red, Q1_24_expert_review | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | founder-effect | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) | N/A | N/A | |
Green | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | locus-type-small-nucleolar | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | new-gene-name, gene-checked | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | 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 | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | STR | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | STR |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | X-LINKED: hemizygous mutation in males, biallelic mutations in females | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Loss-of-function variants DO NOT cause this phenotype | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | watchlist_moi | |
Green | 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 | BIALLELIC, autosomal or pseudoautosomal | N/A | N/A | |
Green | BIALLELIC, autosomal or pseudoautosomal | N/A | gene-checked | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | N/A | N/A | |
Green | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Other | N/A |