Neuromuscular disorders (Version: )

Relevant disorders: Other rare neuromuscular disorders, R381
This panel contains these 7 panels:
  • Rhabdomyolysis and metabolic muscle disorders
  • Limb girdle muscular dystrophy
  • Congenital myopathy
  • Distal myopathies
  • 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
193 unique green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
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
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myaesthenic syndrome
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
Rhabdomyolysis and metabolic muscle disorders
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
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
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
Paediatric motor neuronopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital muscular dystrophy
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
Paediatric motor neuronopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Limb girdle muscular dystrophy
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
Congenital myopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalN/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
Congenital muscular dystrophy
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
Distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOthercurrently-ngs-unreportable, nucleotide-repeat-expansion
Green
Congenital 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 myaesthenic syndrome
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
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 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 myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/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
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
Distal myopathies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/Agene-therapy-trial
Green
Congenital muscular dystrophy
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
Congenital muscular dystrophy
STR
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
Green
Congenital myopathy
STR
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/ASTR
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
Distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Congenital myopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amissense
Green
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalN/Atreatable
Green
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric motor neuronopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/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
Distal myopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
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
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
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
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric motor neuronopathies
BIALLELIC, autosomal or pseudoautosomalN/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
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 myopathy
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
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/Astructural-variant
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
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
Rhabdomyolysis and metabolic muscle disorders
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 myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myaesthenic syndrome
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
Distal myopathies
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
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/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
Distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Paediatric motor neuronopathies
BIALLELIC, autosomal or pseudoautosomalLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/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
Paediatric motor neuronopathies
2p15p16.1 region (includes BCL11A) 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
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
Congenital myopathy
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
Paediatric motor neuronopathies
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/Anon-coding-known-pathogenic
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Amissense
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
Limb girdle muscular dystrophy
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
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
Distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
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
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/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 muscular dystrophy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
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
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalN/Adeletions
Green
Congenital myopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/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
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Limb girdle muscular dystrophy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Congenital myopathy
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
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
Congenital myopathy
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
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
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
Limb girdle muscular dystrophy
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
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
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
Rhabdomyolysis and metabolic muscle disorders
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
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital 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
Congenital 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
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
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
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
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
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
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
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 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
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Paediatric motor neuronopathies
BIALLELIC, autosomal or pseudoautosomalLoss-of-function variants DO NOT cause this phenotypetreatable
Green
Paediatric motor neuronopathies
BIALLELIC, autosomal or pseudoautosomalLoss-of-function variants DO NOT cause this phenotypeN/A
Green
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomalN/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
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric motor neuronopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Congenital myopathy
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
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/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
Congenital myaesthenic syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Distal myopathies
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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/Anew-gene-name
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
Congenital myopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
Congenital myopathy
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
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric motor neuronopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric motor neuronopathies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/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
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Limb girdle muscular dystrophy
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
Rhabdomyolysis and metabolic muscle disorders
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
Paediatric motor neuronopathies
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
Distal myopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Limb girdle muscular dystrophy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
Congenital myopathy
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
Paediatric motor neuronopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A