Hypotonic infant (Version: )

Relevant disorders: Floppy infant with a likely central cause, Hypotonic infant with a likely central cause, R69
This panel contains these 9 panels:
  • Intellectual disability
  • Inborn errors of metabolism
  • Rhabdomyolysis and metabolic muscle disorders
  • Limb girdle muscular dystrophy
  • Distal myopathies
  • Congenital myopathy
  • Congenital myaesthenic syndrome
  • Paediatric motor neuronopathies
  • Congenital muscular dystrophy
Signed off date: 4 Mar 2020
Panel types: GMS Rare Disease Virtual, Super Panel, GMS signed-off
1620 unique green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Agene-therapy-trial
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Distal myopathies
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesOthernucleotide-repeat-expansion
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/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/AN/A
Green
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/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/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Distal myopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amissense
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric motor neuronopathies
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesOthernucleotide-repeat-expansion, currently-ngs-unreportable
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/ASTR
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/ASTR
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anew-gene-name
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Anucleotide-repeat-expansion
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric motor neuronopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/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/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/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/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric motor neuronopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Rhabdomyolysis and metabolic muscle disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Congenital myopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/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/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/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/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric motor neuronopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Inborn errors of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myaesthenic syndrome
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
Congenital myaesthenic syndrome
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherdeletions
Green
Congenital myaesthenic syndrome
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
Congenital myaesthenic syndrome
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/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/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOthercurrently-ngs-unreportable, nucleotide-repeat-expansion
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Congenital muscular dystrophy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anew-gene-name
Green
Congenital myopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Congenital muscular dystrophy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Congenital muscular dystrophy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Congenital muscular dystrophy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Limb girdle muscular dystrophy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalOthernucleotide-repeat-expansion
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemissense
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)N/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/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/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/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 (truncating variants and curated list of variants)N/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Limb girdle muscular dystrophy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
Distal myopathies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anon-coding-known-pathogenic, deletions
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amicroduplication
Green
Congenital muscular dystrophy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Agene-therapy-trial
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Agene-therapy-trial
Green
Limb girdle muscular dystrophy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/Agene-therapy-trial
Green
Rhabdomyolysis and metabolic muscle disorders
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Agene-therapy-trial
Green
Inborn errors of metabolism
STR
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
Green
Intellectual disability
STR
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
Green
Congenital muscular dystrophy
STR
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
Green
Congenital myopathy
STR
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Limb girdle muscular dystrophy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Congenital myopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amissense
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypedominant-negative
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Adeletions
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Apharmacogenetics
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Paediatric motor neuronopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Distal myopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/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/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/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 phenotypeN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anucleotide-repeat-expansion
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric motor neuronopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Inborn errors of metabolism
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/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/AN/A
Green
Limb girdle muscular dystrophy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/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/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/Astructural-variant
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/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/AN/A
Green
Limb girdle muscular dystrophy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/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)Othercurrently-ngs-unreportable, 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/Acurrently-ngs-unreportable, STR
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/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/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Angs-false-positive-region
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
STR
BIALLELIC, autosomal or pseudoautosomalN/ASTR
Green
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amissense
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amissense
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Inborn errors of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Anew-gene-name
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amosaicism
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Distal myopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/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/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Anew-gene-name
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalLoss-of-function variants DO NOT cause this phenotypemissense
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/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/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric motor neuronopathies
BIALLELIC, autosomal or pseudoautosomalLoss-of-function variants DO NOT cause this phenotypeN/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/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
5p15 terminal (Cri du chat syndrome) region Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
2q37.3 terminal region (includes HDAC4) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
15q24 recurrent region (A-D) (includes SIN3A) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/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 unknownN/AN/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 unknownN/AN/A
Green
Intellectual disability
16p11.2 recurrent region (includes TBX6) (proximal region) (BP4-BP5) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
16p11.2 recurrent region (includes TBX6) (proximal region) (BP4-BP5) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
11p13 (WAGR syndrome) region Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Paediatric motor neuronopathies
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
2q13 recurrent region (includes NPHP1) Loss
region
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
16p13.3 region (includes CREBBP) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Congenital myopathy
2p15p16.1 region (includes BCL11A) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
2p15p16.1 region (includes BCL11A) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Paediatric motor neuronopathies
2p15p16.1 region (includes BCL11A) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
16p13.11 recurrent region (includes MYH11) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
16p13.11 recurrent region (includes MYH11) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
17p11.2 recurrent (SMS/PLS) region (includes RAI1) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Congenital myopathy
17q21.3 recurrent region (includes KANSL1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Paediatric motor neuronopathies
17q21.3 recurrent region (includes KANSL1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
17q21.3 recurrent region (includes KANSL1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
8p23.1 recurrent region (includes GATA4) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
8p23.1 recurrent region (includes GATA4) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
10q22.3q23.2 recurrent region (LCR-3/4-flanked) (includes BMPR1A) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
5q35 recurrent (Sotos syndrome) region (includes NSD1) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
5q35 recurrent (Sotos syndrome) region (includes NSD1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Paediatric motor neuronopathies
4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Congenital myopathy
4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
17q11.2 recurrent region (includes NF1) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
17q11.2 recurrent region (includes NF1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
1p36 terminal region (includes GABRD) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/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/AN/A
Green
Inborn errors of metabolism
2p21 region (includes PREPL and SLC3A1) Loss
region
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
2p21 region (includes PREPL and SLC3A1) Loss
region
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
3q29 recurrent region (includes DLG1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/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/AN/A
Green
Intellectual disability
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Paediatric motor neuronopathies
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
16p11.2 recurrent region (includes SH2B1) (distal region) (BP2-BP3) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
1q43q44 terminal region (includes AKT3) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/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/AN/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/AN/A
Green
Intellectual disability
15q25.2 recurrent region (LCR B-C, proximal) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
Xp11.22p11.23 recurrent region (includes SHROOM4) Gain
region
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/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/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Anon-coding-known-pathogenic
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/Anon-coding-known-pathogenic
Green
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Congenital myopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amissense
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)OtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/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/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Limb girdle muscular dystrophy
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/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/AN/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/AN/A
Green
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Congenital muscular dystrophy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)N/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/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/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/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/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/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/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Congenital muscular dystrophy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
MITOCHONDRIALN/AN/A
Green
Inborn errors of metabolism
MITOCHONDRIALN/AN/A
Green
Inborn errors of metabolism
MITOCHONDRIALN/AN/A
Green
Inborn errors of metabolism
MITOCHONDRIALN/AN/A
Green
Inborn errors of metabolism
MITOCHONDRIALN/AN/A
Green
Inborn errors of metabolism
MITOCHONDRIALN/AN/A
Green
Inborn errors of metabolism
MITOCHONDRIALN/AN/A
Green
Inborn errors of metabolism
MITOCHONDRIALN/AN/A
Green
Inborn errors of metabolism
MITOCHONDRIALN/AN/A
Green
Inborn errors of metabolism
MITOCHONDRIALN/AN/A
Green
Inborn errors of metabolism
MITOCHONDRIALN/AN/A
Green
Inborn errors of metabolism
MITOCHONDRIALN/AN/A
Green
Inborn errors of metabolism
MITOCHONDRIALN/AN/A
Green
Inborn errors of metabolism
MITOCHONDRIALN/AN/A
Green
Inborn errors of metabolism
MITOCHONDRIALN/AN/A
Green
Inborn errors of metabolism
MITOCHONDRIALN/AN/A
Green
Inborn errors of metabolism
MITOCHONDRIALN/AN/A
Green
Inborn errors of metabolism
MITOCHONDRIALN/AN/A
Green
Inborn errors of metabolism
MITOCHONDRIALN/AN/A
Green
Inborn errors of metabolism
MITOCHONDRIALN/AN/A
Green
Inborn errors of metabolism
MITOCHONDRIALN/AN/A
Green
Inborn errors of metabolism
MITOCHONDRIALN/AN/A
Green
Inborn errors of metabolism
MITOCHONDRIALN/AN/A
Green
Inborn errors of metabolism
MITOCHONDRIALN/AN/A
Green
Inborn errors of metabolism
MITOCHONDRIALN/AN/A
Green
Inborn errors of metabolism
MITOCHONDRIALN/AN/A
Green
Inborn errors of metabolism
MITOCHONDRIALN/AN/A
Green
Inborn errors of metabolism
MITOCHONDRIALN/AN/A
Green
Inborn errors of metabolism
MITOCHONDRIALN/AN/A
Green
Inborn errors of metabolism
MITOCHONDRIALN/AN/A
Green
Inborn errors of metabolism
MITOCHONDRIALN/AN/A
Green
Inborn errors of metabolism
MITOCHONDRIALN/AN/A
Green
Inborn errors of metabolism
MITOCHONDRIALN/AN/A
Green
Inborn errors of metabolism
MITOCHONDRIALN/AN/A
Green
Inborn errors of metabolism
MITOCHONDRIALN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Congenital myopathy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermosaicism, missense, somatic
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalN/Adeletions
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Congenital myopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Congenital myopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb girdle muscular dystrophy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Congenital myopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Congenital myopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/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/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Amissense
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Distal myopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/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/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Adeletions
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/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/Amissense
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/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/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/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/AN/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/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Congenital myopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amissense
Green
Limb girdle muscular dystrophy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Agene-therapy-trial
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypemissense
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Afounder-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/Amosaicism, x-linked-over-dominance, somatic
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOtherN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/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/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Adeletions
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Adeletions
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Limb girdle muscular dystrophy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Amissense
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermosaicism, somatic
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalN/Amonogenic-polygenic
Green
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/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/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amicrodeletion
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Amissense
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/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/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Apharmacogenetics, treatable
Green
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownOthermissense
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Ade novo
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/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/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric motor neuronopathies
BIALLELIC, autosomal or pseudoautosomalLoss-of-function variants DO NOT cause this phenotypetreatable
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric motor neuronopathies
BIALLELIC, autosomal or pseudoautosomalLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/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/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/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/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Paediatric motor neuronopathies
BIALLELIC, autosomal or pseudoautosomalLoss-of-function variants DO NOT cause this phenotypecnv, gene-therapy-trial
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/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/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric motor neuronopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amicrodeletion
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/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Congenital myopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amissense
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Adeletions
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Congenital muscular dystrophy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Limb girdle muscular dystrophy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Ade novo
Green
Congenital myaesthenic syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Ade novo
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Distal myopathies
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb girdle muscular dystrophy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Congenital myopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Intellectual disability
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Inborn errors of metabolism
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A