Description
This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service; the panel will routinely be applied for clinical indication 'R381 Other rare neuromuscular disorders' but can also be used as part of the analysis for a broader clinical presentation, where relevant.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R381 Other rare neuromuscular disorders'.

The content of this panel is overseen by the NHS Genomic Medicine Service governance.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

This panel is a constituent panel of the super panel 'Hypotonic infant'. Changes made to this panel will automatically be updated in the relevant super panel(s).

This panel has been initially created as a merge of genomic entities from the following 7 panels: 
- Congenital muscular dystrophy v1.19
- Congenital myaesthenic syndrome v1.10
- Congenital myopathy v1.66
- Distal myopathies v1.10
- Limb girdle muscular dystrophy v1.12
- Paediatric motor neuronopathies v1.19
- Rhabdomyolysis and metabolic muscle disorders v1.22

4 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Cristina Dias (The Francis Crick Institute)

    Group: NHS Genomic Medicine Centre
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

252 Entities

11 reviewed, 172 green

List Entity Reviews Mode of inheritance Details
252 Entitiess
Green Green List (high evidence)
ACAD9
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex I deficiency due to ACAD9 deficiency 611126
Tags
Green Green List (high evidence)
ACADM
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Acyl-CoA dehydrogenase, medium chain, deficiency of
  • Rhabdomyolysis
Tags
Green Green List (high evidence)
ACADVL
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • VLCAD deficiency
Tags
Green Green List (high evidence)
ACTA1
0 reviews
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • CMD with rigid spine
  • Nemaline myopathy 3, autosomal dominant or recessive 161800
  • Myopathy, congenital, with fiber-type disproportion 1 255310
  • Nemaline myopathy 3, 161800
  • Myopathy, congenital, with fiber-type disproportion 1
  • Myopathy, actin, congenital, with cores
  • Myopathy, actin, congenital, with excess of thin myofilaments
  • Nemaline myopathy 3
Tags
Green Green List (high evidence)
AGL
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glycogen storage disease IIIa
Tags
Green Green List (high evidence)
AGRN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120
  • Congenital myasthenic syndrome
Tags
Green Green List (high evidence)
ALDOA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glycogen storage disease XII
Tags
Green Green List (high evidence)
ANO5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Limb-Girdle Muscular Dystrophy, Recessive
  • Muscular dystrophy, limb-girdle, type 2L, 611307
  • Miyoshi muscular dystrophy 3, 613319
  • Miyoshi muscular dystrophy 3
  • Limb-girdle muscular dystrophy
  • Gnathodiaphyseal dysplasia, 166260
  • Miyoshi muscular dystrophy 3, 613319
  • Gnathodiaphyseal dysplasia, 166260
  • Muscular dystrophy, limb-girdle, type 2L, 611307
  • Miyoshi muscular dystrophy 3, 613319
Tags
Green Green List (high evidence)
AR
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Androgen insensitivity, 300068
  • Spinal and bulbar muscular atrophy of Kennedy, 313200
  • Androgen insensitivity, partial, with or without breast cancer, 312300
  • Hypospadias 1, X-linked, 300633
Tags
Green Green List (high evidence)
AR_CAG
STR
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Spinal and bulbar muscular atrophy or Kennedy diseases 313200
Tags
  • STR
Green Green List (high evidence)
ASAH1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinal muscular atrophy with progressive myoclonic epilepsy, 159950
Tags
Green Green List (high evidence)
B3GALNT2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • congenital muscular dystrophies
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11
Tags
Green Green List (high evidence)
B4GAT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287
Tags
Green Green List (high evidence)
BAG3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • myofibrillar myopathy 6, 612954
  • Myopathy, myofibrillar, 6, 612954
Tags
Green Green List (high evidence)
BICD2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290
Tags
Green Green List (high evidence)
BIN1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Myopathy, centronuclear, autosomal recessive, 255200
  • Centronuclear Myopathy, Recessive
Tags
Green Green List (high evidence)
CACNA1S
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital myopathy
  • Malignant hyperthermia susceptibility 5, 601887
Tags
Green Green List (high evidence)
CAPN3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2A, 253600
  • Limb-girdle muscular dystrophy
  • Limb-Girdle Muscular Dystrophy, Recessive
Tags
Green Green List (high evidence)
CAV3
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Myopathy, distal, Tateyama type, 614321
  • Limb-Girdle Muscular Dystrophy, Dominant
  • Cardiomyopathy, familial hypertrophic, 192600
  • Cardiomyopathy, familial hypertrophic 192600
  • Muscular dystrophy, limb-girdle, type IC, 607801
  • Rippling muscle disease, 606072
  • Limb-girdle muscular dystrophy
  • Creatine phosphokinase, elevated serum 123320
  • Myopathy, distal, Tateyama type 614321
  • Rippling muscle disease 606072
  • Long QT syndrome 9 611818
  • Creatine phosphokinase, elevated serum, 123320
  • Muscular dystrophy, limb-girdle, type IC
  • Muscular dystrophy, limb-girdle, type IC 607801
Tags
Green Green List (high evidence)
CFL2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nemaline Myopathy, Recessive
  • Nemaline myopathy 7, autosomal recessive, 610687
Tags
Green Green List (high evidence)
CHAT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 6, presynaptic, 254210
  • CMS-EA
  • Congenital myasthenics sndrome associated with episodic apnea
Tags
Green Green List (high evidence)
CHCHD10
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Spinal muscular atrophy, Jokela type 615048
  • ?Myopathy, isolated mitochondrial, autosomal dominant 616209
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911
Tags
Green Green List (high evidence)
CHKB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital Muscular Dystrophy, CKHB-related
  • Muscular dystrophy, congenital, megaconial type, 602541
Tags
Green Green List (high evidence)
CHRNA1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 1B, fast-channel, 608930
  • Myasthenic syndrome, congenital, 1A, slow-channel, 601462
  • fast channel myasthenic syndrome
  • Acetylcholine receptor deficiency syndrome
  • Slow channel myasthenic syndrome
  • Congenital Myasthenic Syndrome, Dominant/Recessive
Tags
Green Green List (high evidence)
CHRNB1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314
  • Myasthenic syndrome, congenital, 2A, slow-channel, 616313
  • fast channel myasthenic syndrome
  • Myasthenic syndrome, slow-channel congenital, 601462
  • Acetylcholine receptor deficiency syndrome
  • Slow channel myasthenic syndrome
  • Congenital Myasthenic Syndrome, Dominant/Recessive
Tags
Green Green List (high evidence)
CHRND
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321
  • ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323
  • Myasthenic syndrome, congenital, 3B, fast-channel, 616322
  • fast channel myasthenic syndrome
  • Myasthenic syndrome, slow-channel congenital, 601462
  • Acetylcholine receptor deficiency syndrome
  • Slow channel myasthenic syndrome
  • Congenital Myasthenic Syndrome, Dominant/Recessive
Tags
Green Green List (high evidence)
CHRNE
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 4B, fast-channel, 616324
  • Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931
  • Myasthenic syndrome, congenital, 4A, slow-channel, 605809
  • fast channel myasthenic syndrome
  • Myasthenic syndrome, slow-channel congenital, 601462
  • Acetylcholine receptor deficiency syndrome
  • Reduced channel conductance syndrome
  • Slow channel myasthenic syndrome
  • Congenital Myasthenic Syndrome, Dominant/Recessive
Tags
Green Green List (high evidence)
CHRNG
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • escobar syndrome
  • Neonatal congenital myasthenia
  • multiple pterygium syndrome/MPS
  • Myasthenia gravis, neonatal transient
  • fetal akinesia deformation sequence syndrome/FADS
Tags
Green Green List (high evidence)
CNBP
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Myotonic dystrophy 2, 602668
Tags
Green Green List (high evidence)
COL12A1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Bethlem myopathy 2
  • EDS/myopathy overlap syndrome
  • Ullrich congenital muscular dystrophy 2
Tags
Green Green List (high evidence)
COL13A1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital myasthenic syndrome type 19
  • Myasthenic syndrome, congenital, 19, 616720
Tags
Green Green List (high evidence)
COL6A1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ullrich congenital muscular dystrophy, 254090
  • Bethlem myopathy 1
  • Bethlem myopathy, 158810
Tags
Green Green List (high evidence)
COL6A2
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ullrich congenital muscular dystrophy, 254090
  • Bethlem myopathy 1
  • Bethlem myopathy, 158810
Tags
Green Green List (high evidence)
COL6A3
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Bethlem myopathy, 158810Ullrich congenital muscular dystrophy, 254090
  • Bethlem myopathy 1
  • Ullrich congenital muscular dystrophy, 254090
  • Bethlem myopathy, 158810
Tags
Green Green List (high evidence)
COLQ
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency
  • Congenital Myasthenic Syndrome, Recessive
  • Myasthenic syndrome, congenital, 5, 603034
Tags
Green Green List (high evidence)
CPT2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • CPT II deficiency, lethal neonatal 608836
  • CPT II deficiency, infantile 600649
  • CPT II deficiency, myopathic, stress-induced 255110
  • CPT II deficiency, myopathic, stress-induced
Tags
Green Green List (high evidence)
CRYAB
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Myopathy, myofibrillar 2, 608810
  • Myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related 613869
Tags
Green Green List (high evidence)
DAG1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • congenital muscular dystrophies, MDDGA9 (WWS), also hyperckaemia and MDDG C9
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818
  • congenital muscular dystrophies
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 616538
  • Walker-Warburg syndrome
Tags
Green Green List (high evidence)
DES
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Myopathy, myofibrillar, 1, 601419
  • Muscular dystrophy, limb-girdle, type 2R
  • Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400
  • Myopathy, myofibrillar 1, 601419
Tags
Green Green List (high evidence)
DMD
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Duchenne muscular dystrophy, 310200
  • Becker muscular dystrophy, 300376
Tags
Green Green List (high evidence)
DMPK_CTG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myotonic dystrophy 1 160900
Tags
  • STR
Green Green List (high evidence)
DNAJB6
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Limb-Girdle Muscular Dystrophy, Dominant
  • Muscular dystrophy, limb-girdle, type 1E, 603511
  • Myofibrillar Myopathy, Dominant
  • limb-girdle muscular dystrophy type 1E, 603511
Tags
Green Green List (high evidence)
DNM2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2M, 606482
  • Myopathy, centronuclear, 160150
  • Myopathy, centronuclear,
Tags
Green Green List (high evidence)
DOK7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Limb girdle congenital myasthenic syndrome
  • Myasthenia, limb-girdle, familial
  • Myasthenic syndrome, congenital, 10, 254300
Tags
Green Green List (high evidence)
DOLK
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Im, 610768
Tags
Green Green List (high evidence)
DPAGT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Limb girdle congenital myasthenic
  • Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750
  • Congenital disorder of glycosylation, type Ij, 608093
  • tubular aggregates
  • congenital disorder of glycosylation type Ij (CDG-IJ)
Tags
Green Green List (high evidence)
DPM2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • musclular dystrophy dystroglycanopathy syndrome with severe epilepsy
  • Congenital disorder of glycosylation, type Iu 615042
Tags
Green Green List (high evidence)
DYNC1H1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Spinal muscular atrophy, lower extremity-predominant, AD, 158600
Tags
Green Green List (high evidence)
DYSF
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Miyoshi muscular dystrophy 1, 254130
  • Limb-girdle muscular dystrophy
  • Miyoshi muscular dystrophy 1 254130
  • Muscular dystrophy, limb-girdle, type 2B, 253601
  • Miyoshi muscular dystrophy 1
  • Muscular dystrophy, limb-girdle, type 2B 253601
  • Myopathy, distal, with anterior tibial onset, 606768
  • Muscular dystrophy, limb-girdle, type 2B, 253601Myopathy, distal, with anterior tibial onset, 606768Miyoshi muscular dystrophy 1, 254130
  • Myopathy, distal, with anterior tibial onset 606768
  • Limb-Girdle Muscular Dystrophy, Recessive
Tags
Green Green List (high evidence)
EMD
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Emery-Dreifuss muscular dystrophy 1, X-linked
  • Emery-Dreifuss muscular dystrophy 1, X-linked, 310300
Tags
Green Green List (high evidence)
ENO3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ?Glycogen storage disease XIII
Tags
Green Green List (high evidence)
EPG5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Vacuolar myopathy
  • Vici syndrome, 242840
Tags
Green Green List (high evidence)
ETFA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glutaric acidemia IIA 231680
Tags
Green Green List (high evidence)
ETFB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glutaric acidemia IIB
Tags
Green Green List (high evidence)
ETFDH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glutaric acidemia IIC
Tags
Green Green List (high evidence)
EXOSC3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia, type 1B 614678
Tags
Green Green List (high evidence)
FHL1
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Emery-Dreifuss muscular dystrophy
  • Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718
Tags
Green Green List (high evidence)
FKBP14
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
  • Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557
Tags
Green Green List (high evidence)
FKRP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
  • Limb-girdle muscular dystrophy
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5
Tags
Green Green List (high evidence)
FKTN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fukuyama Congenital Muscular Dystrophy
  • Muscular dystrophy-dystroglycanopathy (with brain and eye anomalies), 253800
  • Limb-girdle muscular dystrophy
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588
  • Fukuyama congenital muscular dystrophy
  • Muscular dystrophy-dystroglycanopathy (without mental retardation), 613152
  • Cardiomyopathy, dilated, 1X, 611615
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Tags
Green Green List (high evidence)
FLNC
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Myopathy, myofibrillar, 5, 609524
  • Myopathy, myofibrillar, 5
  • Distal myopathy 4, 614065
Tags
Green Green List (high evidence)
GAA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glycogen storage disease II
Tags
Green Green List (high evidence)
GBE1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glycogen storage disease IV
Tags
Green Green List (high evidence)
GFPT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Limb-girdle congenital myasthenic syndrome
  • Myasthenia, congenital, 12, with tubular aggregates, 610542
  • Congenital Myasthenic Syndrome, Recessive
  • tubular aggregates
Tags
Green Green List (high evidence)
GMPPB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • MDDGC14 with features of CMS
  • muscular dystrophy-dystroglycanopathy
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14
  • congenital muscular dystrophy with mental retardation
  • GMPPB-CMS
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14
  • Congenital Myasthenic Syndrome
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 with features of congenital myasthenic syndrome
Tags
Green Green List (high evidence)
GNE
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nonaka myopathy, 605820
Tags
Green Green List (high evidence)
GYG1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glycogen storage disease XV,613507
  • Polyglucosan body myopathy 2, 616199
Tags
Green Green List (high evidence)
GYS1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glycogen storage disease 0, muscle, 611556
Tags
Green Green List (high evidence)
HADHA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Trifunctional protein deficiency
Tags
Green Green List (high evidence)
HADHB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Trifunctional protein deficiency, 609015
Tags
Green Green List (high evidence)
HSPB1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Neuropathy, distal hereditary motor type IIB, 608634
Tags
Green Green List (high evidence)
HSPB8
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Neuropathy, distal hereditary motor type IIA, 158590
  • Distal myopathy
Tags
Green Green List (high evidence)
HTRA2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 3-methylglutaconic aciduria, type VIII
Tags
Green Green List (high evidence)
IGHMBP2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinal muscular atrophy with respiratory distress, 604320
Tags
Green Green List (high evidence)
INPP5K
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
  • Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy
Tags
Green Green List (high evidence)
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
ISCA-37404-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • microcephaly
  • Developmental delay, muscle weakness
  • 176270
  • 105833
  • Angelman syndrome
  • Prader-Willi syndrome
  • Mental retardation
Tags
Green Green List (high evidence)
2p15p16.1 region (includes BCL11A) Loss
ISCA-37408-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • PMID: 22579565 severe developmental delay, congenital microcephaly, intractable epilepsy, and renal anomalies, as well as a congenital choledochal cyst which has not been previously reported in other patients with this cytogenetic defect
  • 612513
  • PMID: 16963482 idiopathic intellectual disability including moderate to severe intellectual disability, autism/autistic features, microcephaly, structural brain anomalies including cortical dysplasia/pachygyria, renal anomalies (multicystic kidney, hydronephrosis), digital camptodactyly, visual impairment, strabismus, neuromotor deficits, communication and attention impairments, and a distinctive pattern of craniofacial features. Dysmorphic craniofacial features include progressive microcephaly, flat occiput, widened inner canthal distance, small palpebral fissures, ptosis, long and straight eyelashes, broad and high nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips. PMID: 18245392 A 32-year-old, mentally retarded male was referred to our centre for further clinical genetic analysis. He was born to non-consanguineous parents after 42 weeks gestation with a birth weight of 3500 g. He had a healthy older brother. In the neonatal period he was hypotonic and at 8 weeks of age he underwent surgery because of an inguinal hernia with removal of an atrophic right testis. His motor development was severely delayed with sitting at 3.5 years and walking at 5 years of age. Speech was poorly developed, characterised by the usage of only a few words. During infancy an optic nerve hypoplasia was diagnosed, and during childhood he frequently suffered from luxations of the patellae, which required surgery. At the age of 32 years his height is 163 cm (_3 SDS) and head circumference 52.5 cm (_2.5 SDS). He has a narrow receding forehead, widened inner canthal distance of 3.5 cm (90th centile), normal outer canthal distance of 8.5 cm (25th centile), telecanthus, short and down slanting palpebral fissures, epicanthal folds, ptosis, long, straight eyelashes, high nasal bridge, low set large ears, flat philtrum, small mouth with high, narrow palate and retrognathia. The thorax is broad with increased internipple distance and slight gynaecomastia. A recent renal ultrasound revealed multiple cysts in the left, dystrophic kidney and two uncomplicated cysts in the enlarged, right kidney. The patient has a normally sized phallus with absent right testis and small left testis. His hands show a simian crease right and tapering fingers with broad proximal interphalangeal joints. He shows sandal gaps on both flat feet with clinodactyly of the fourth and fifth toes (and more)
Tags
Green Green List (high evidence)
17q21.3 recurrent region (includes KANSL1) Loss
ISCA-37420-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • PMID: 25217958
  • PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies
  • 610443
  • Koolen-De Vries syndrome 610443
Tags
Green Green List (high evidence)
4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss
ISCA-37429-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • 194190
  • Wolf-Hirschhorn syndrome
Tags
Green Green List (high evidence)
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss
ISCA-37478-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • microcephaly
  • Developmental delay, muscle weakness
  • 176270
  • Angelman syndrome
  • Prader-Willi syndrome
  • 105830
  • Mental retardation
Tags
Green Green List (high evidence)
ISCU
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Myopathy with lactic acidosis, hereditary, 255125
Tags
Green Green List (high evidence)
ISPD
2 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052
  • Congenital Muscular Dystrophy, alpha-dystroglycan related
  • Walker-Warburg syndrome (WWS)
Tags
  • new-gene-name
Green Green List (high evidence)
ITGA7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204
  • Congenital Muscular Dystrophy, ITGA7-related
Tags
Green Green List (high evidence)
KBTBD13
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Nemaline Myopathy, Dominant
  • Nemaline myopathy 6, autosomal dominant, 609273
Tags
Green Green List (high evidence)
KLHL40
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nemaline myopathy 8, autosomal recessive, 615348
Tags
Green Green List (high evidence)
KLHL41
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nemaline myopathy 9, 615731
Tags
Green Green List (high evidence)
LAMA2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, congenital merosin-deficient, 607855
  • Congenital Muscular Dystrophy, LAMA2-related
  • Muscular dystrophy, congenital, due to partial LAMA2 deficiency 607855
Tags
Green Green List (high evidence)
LAMP2
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Vacuolar myopathy
  • Danon disease, 300257
Tags
Green Green List (high evidence)
LARGE1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154
  • Congenital Muscular Dystrophy, alpha-dystroglycan related
Tags
Green Green List (high evidence)
LDB3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Myopathy, myofibrillar 4, 609452
  • Myofibrillar Myopathy, Dominant
Tags
Green Green List (high evidence)
LDHA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glycogen storage disease XI, 612933
Tags
Green Green List (high evidence)
LGI4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468
  • Arthrogryposis Multiplex Congenita
  • AMCNMY
Tags
Green Green List (high evidence)
LMNA
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Emery-Dreifuss muscular dystrophy 2, AD, 181350
  • Congenital fiber type disproportion myopathy
  • Congenital Muscular Dystrophy, LMNA-related (Dominant)
  • Limb-girdle muscular dystrophy
  • Limb-Girdle Muscular Dystrophy, Recessive
Tags
Green Green List (high evidence)
LMOD3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nemaline myopathy 10 616165
Tags
Green Green List (high evidence)
LPIN1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Myoglobinuria, acute recurrent, autosomal recessive, 268200
Tags
Green Green List (high evidence)
LRP4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 17, 616304
  • Congenital myasthenic syndrome
Tags
Green Green List (high evidence)
MAP3K20
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • congenital myopathy with fibre type disproportion
Tags
Green Green List (high evidence)
MATR3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Distal Myopathy
  • Amyotrophic lateral sclerosis 21 606070
Tags
Green Green List (high evidence)
MEGF10
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399
  • Myopathy, Early-Onset, Areflexia, Respiratory Distress, and Dysphagia
Tags
Green Green List (high evidence)
MICU1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Myopathy with extrapyramidal signs, 615673
Tags
Green Green List (high evidence)
MTM1
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Myotubular myopathy, X-linked, 310400
  • X-linked myotubular myopathy
Tags
Green Green List (high evidence)
MUSK
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital Myasthenic Syndrome, Recessive
  • Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325
  • Congenital myasthenic syndrome
Tags
Green Green List (high evidence)
MYH2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Proximal myopathy and ophthalmoplegia 605637
Tags
Green Green List (high evidence)
MYH3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Arthrogryposis, distal, type 2A 193700
  • Arthrogryposis, distal, type 8 178110
  • Arthrogryposis, distal, type 2B 601680
Tags
Green Green List (high evidence)
MYH7
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Laing distal myopathy, 160500
Tags
Green Green List (high evidence)
MYH8
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Trismus-pseudocamptodactyly syndrome 158300
Tags
Green Green List (high evidence)
MYMK
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Carey-Fineman-Ziter syndrome
Tags
Green Green List (high evidence)
MYO18B
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM
Tags
Green Green List (high evidence)
MYOT
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Myopathy, myofibrillar, 3 609200
  • Limb-Girdle Muscular Dystrophy, Dominant
  • Muscular dystrophy, limb-girdle, type 1A, 159000
  • Limb-girdle muscular dystrophy
  • Muscular dystrophy, limb-girdle, type 1A 159000
  • Myopathy, spheroid body 182920
Tags
Green Green List (high evidence)
NEB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nemaline myopathy 2, 256030
  • Nemaline myopathy 2, autosomal recessive, 256030
  • Nemaline Myopathy, Recessive
Tags
Green Green List (high evidence)
ORAI1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Myopathy, tubular aggregate, 2 615883
Tags
Green Green List (high evidence)
PAX7
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypotonia
  • Axial hypotonia
  • Ptosis
  • Scoliosis
  • Delayed motor milestones
  • Myopathy, congenital, progressive, with scoliosis, 618578
Tags
Green Green List (high evidence)
PFKM
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glycogen storage disease VII
Tags
Green Green List (high evidence)
PGAM2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glycogen storage disease X
Tags
Green Green List (high evidence)
PGK1
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Phosphoglycerate kinase 1 deficiency
Tags
Green Green List (high evidence)
PGM1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type It
Tags
Green Green List (high evidence)
PHKA1
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Muscle glycogenosis, 300559
Tags
Green Green List (high evidence)
PHKB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Phosphorylase kinase deficiency of liver and muscle, autosomal recessive
Tags
Green Green List (high evidence)
PLEC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Plectin deficiency
  • myasthenic syndrome
  • Limb-girdle muscular dystrophy
  • Congenital myasthenic syndrome
  • Muscular dystrophy with epidermolysis bullosa simplex, 226670
  • Congenital myasthenic syndrome associatedwith epidermolysis bullosa (EBS)
Tags
Green Green List (high evidence)
POLG
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 4A (Alpers type)
Tags
Green Green List (high evidence)
POLG2
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Tags
Green Green List (high evidence)
POMGNT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 613151
  • Limb-girdle muscular dystrophy
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 613157
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
  • Limb-Girdle Muscular Dystrophy, Recessive
Tags
Green Green List (high evidence)
POMGNT2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8
  • Walker-Warburg syndrome
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type
Tags
Green Green List (high evidence)
POMK
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12, 616094
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249
Tags
Green Green List (high evidence)
POMT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Limb-girdle muscular dystrophy
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
  • Limb-Girdle Muscular Dystrophy, Recessive
Tags
Green Green List (high evidence)
POMT2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2
  • Limb-girdle muscular dystrophy
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
  • Limb-Girdle Muscular Dystrophy, Recessive
Tags
Green Green List (high evidence)
PRKAG2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, hypertrophic 6, 600858
  • Glycogen storage disease of heart, lethal congenital, 261740
  • Wolff-Parkinson-White syndrome, 194200
Tags
Green Green List (high evidence)
PYGM
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glycogen storage disease V
  • McArdle disease, 232600
Tags
Green Green List (high evidence)
RAPSN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • acute respiratory crises
  • Congenital Myasthenic Syndrome, Recessive
  • late and early onset
  • Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326
  • Congenital myasthenic syndrome
Tags
Green Green List (high evidence)
RBCK1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Polyglucosan body myopathy 1 with or without immunodeficiency
  • Polyglucosan body myopathy, early-onset, with or without immunodeficiency, 615895
Tags
Green Green List (high evidence)
RRM2B
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)
Tags
Green Green List (high evidence)
RYR1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Central core disease, 117000
  • Neuromuscular disease, congenital, with uniform type 1 fiber
  • Malignant hyperthermia susceptibility 1 145600
  • Minicore myopathy with external ophthalmoplegia, 255320
  • Neuromuscular disease, congenital, with uniform type 1 fiber 117000
  • Central core disease 117000
  • Minicore myopathy with external ophthalmoplegia 255320
  • Minicore myopathy with external ophthalmoplegia
  • {Malignant hyperthermia susceptibility 1}, 145600
  • congenital muscular dystrophies
  • Central core disease
  • Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 King-Denborough syndrome, 145600
Tags
Green Green List (high evidence)
SCN4A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • congenital myopathy
  • Congenital Myasthenic Syndrome, Recessive
  • congenital myasthenic syndromes
  • Myasthenic syndrome, congenital, 16, 614198
Tags
Green Green List (high evidence)
SELENON
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, rigid spine, 1 602771
  • Myopathy, congenital, with fiber-type disproportion 255310
  • Muscular dystrophy, rigid spine, 1, 602771
Tags
Green Green List (high evidence)
SGCA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2D, 608099
  • Limb-girdle muscular dystrophy
Tags
Green Green List (high evidence)
SGCB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Limb-girdle muscular dystrophy
  • Limb-Girdle Muscular Dystrophy, Recessive
  • Muscular dystrophy, limb-girdle, type 2E, 604286
Tags
Green Green List (high evidence)
SGCD
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2F, 601287
  • Limb-girdle muscular dystrophy
  • Limb-Girdle Muscular Dystrophy, Recessive
Tags
Green Green List (high evidence)
SGCG
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2C, 253700
  • Limb-girdle muscular dystrophy
  • Limb-Girdle Muscular Dystrophy, Recessive
Tags
Green Green List (high evidence)
SIL1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Marinesco-Sjogren syndrome, 248800
Tags
Green Green List (high evidence)
SLC18A3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 21, presynaptic, 617239
  • ophthalmopleggia and apnea
  • Congenital myasthenic syndrome
Tags
Green Green List (high evidence)
SLC22A5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Carnitine deficiency, systemic primary
Tags
Green Green List (high evidence)
SLC25A4
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial myopathy
  • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283
Tags
Green Green List (high evidence)
SLC52A2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Brown-Vialetto-Van Laere syndrome 2, 614707
Tags
Green Green List (high evidence)
SLC52A3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Brown-Vialetto-Van Laere syndrome 1, 211530
Tags
Green Green List (high evidence)
SLC5A7
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Neuronopathy, distal hereditary motor, type VIIA 158580
  • Myasthenic syndrome, congenital, 20, presynaptic, 617143
  • Hereditory motor neuropathy
  • Congenital myasthenic syndrome
Tags
Green Green List (high evidence)
SMN1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinal muscular atrophy 1, 253300
  • Spinal muscular atrophy 2, 253550
  • Spinal muscular atrophy 3, 253400
  • Spinal muscular atrophy 4, 271150
Tags
Green Green List (high evidence)
SPEG
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Centronuclear myopathy 5 615959
Tags
Green Green List (high evidence)
SPG11
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Amyotrophic lateral sclerosis 5, juvenile 602099
Tags
Green Green List (high evidence)
SQSTM1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Dystal Myopathy with rimmed vacuoles, 617158
Tags
Green Green List (high evidence)
STAC3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Myopathy, congenital, Baily-Bloch, 255995
Tags
Green Green List (high evidence)
STIM1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Myopathy, tubular aggregate, 160565
Tags
Green Green List (high evidence)
SUCLA2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073
Tags
Green Green List (high evidence)
SYNE1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998
  • Spinocerebellar ataxia, autosomal recessive 8, 610743
Tags
Green Green List (high evidence)
TCAP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2G, 601954
  • Congenital muscular dystrophies
  • Limb-girdle muscular dystrophy
  • Limb-Girdle Muscular Dystrophy, Recessive
Tags
Green Green List (high evidence)
TIA1
0 reviews
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Welander distal myopathy, 604454
Tags
Green Green List (high evidence)
TK2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560
Tags
Green Green List (high evidence)
TMEM5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type 10, 615041
Tags
Green Green List (high evidence)
TNNT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Nemaline myopathy 5, Amish type, 605355
  • Nemaline Myopathy, Recessive
Tags
Green Green List (high evidence)
TPM2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Nemaline myopathy 4, autosomal dominant 609285
  • CAP myopathy 2 609285
Tags
Green Green List (high evidence)
TPM3
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Myopathy, congenital, with fiber-type disproportion 255310
  • CAP myopathy 1 609284
  • Nemaline myopathy 1, autosomal dominant or recessive 609284
Tags
Green Green List (high evidence)
TRAPPC11
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2S, 615356
  • congenital muscular dystrophy (CMD), progressive fatty liver and infantile-onset cataract
  • infantile-onset muscle weakness
Tags
Green Green List (high evidence)
TRIM32
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2H, 254110
  • Limb-girdle muscular dystrophy
  • Limb-Girdle Muscular Dystrophy, Recessive
Tags
Green Green List (high evidence)
TRIP4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinal muscular atrophy with congenital bone fractures 1 616866
Tags
Green Green List (high evidence)
TRPV4
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Distal Congenital Nonprogressive Spinal Muscular Atrophy
  • Brachyolmia type 3, 113500
Tags
Green Green List (high evidence)
TSEN54
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia type 5, 610204
Tags
Green Green List (high evidence)
TSFM
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 3 610505
Tags
Green Green List (high evidence)
TTN
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Myopathy, early-onset, with fatal cardiomyopathy 611705
  • Muscular dystrophy, limb-girdle, type 2J
  • Tibial muscular dystrophy, tardive, 600334
Tags
Green Green List (high evidence)
TYMP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
Tags
Green Green List (high evidence)
UBA1
0 reviews
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Spinal muscular atrophy, X-linked 2, infantile, 301830
  • Infantile Spinal Muscular Atrophy, X-Linked
Tags
Green Green List (high evidence)
VCP
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320
  • Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia 613954
  • Charcot-Marie-Tooth disease, type 2Y 616687
  • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 167320
  • Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1
Tags
Green Green List (high evidence)
VMA21
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Vacuolar myopathy
  • Myopathy, X-linked, with excessive autophagy, 310440
Tags
Green Green List (high evidence)
VRK1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia type 1A 607596
Tags
Amber Amber List (moderate evidence)
ALG2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Congenital disorder of glycosylation CDG type Ii, 607906
  • Congenital myasthenic syndromes
  • Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228
Tags
Amber Amber List (moderate evidence)
ALS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • juvenile amyotrophic lateral sclerosis-2, 205100
Tags
Amber Amber List (moderate evidence)
ATP7A
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
Phenotypes
  • Menkes disease, 309400
  • Occipital horn syndrome, 304150
  • Spinal muscular atrophy, distal, X-linked 3, 300489
Tags
Amber Amber List (moderate evidence)
CASQ1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Vacuolar myopathy with CASQ1 aggregates (VMCQA)
Tags
Amber Amber List (moderate evidence)
CCDC78
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Myopathy, centronuclear, 4, 614807
Tags
Amber Amber List (moderate evidence)
CNTN1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • ?Myopathy, congenital, Compton-North, 612540
Tags
Amber Amber List (moderate evidence)
COL4A1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • walker warburg syndrome, muscle eye brain disease
Tags
Amber Amber List (moderate evidence)
DPM1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • congenital muscular dystrophies
  • Congenital disorder of glycosylation, type Ie
Tags
Amber Amber List (moderate evidence)
DPM3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Congenital disorder of glycosylation, type Io
  • congenital muscular dystrophies
Tags
Amber Amber List (moderate evidence)
EXOSC8
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Pontocerebellar hypoplasia, type 1C 616081
Tags
Amber Amber List (moderate evidence)
HACD1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • congenital myopathy
Tags
Amber Amber List (moderate evidence)
HNRNPDL
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Muscular dystrophy, limb-girdle, type 1G 609115
Tags
Amber Amber List (moderate evidence)
KY
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • congenital myopathy
Tags
Amber Amber List (moderate evidence)
MTMR14
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • centronuclear myopathy
Tags
Amber Amber List (moderate evidence)
MYBPC3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • myopathy and cardiomyopathy
Tags
Amber Amber List (moderate evidence)
MYL1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • congenital myopathy
Tags
Amber Amber List (moderate evidence)
MYO9A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • congenital myasthenic syndrome
  • CMS
Tags
Amber Amber List (moderate evidence)
MYPN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Congenital cap myopathy
Tags
Amber Amber List (moderate evidence)
NEFL
0 reviews
MONOALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Nemaline Myopathy
Tags
Amber Amber List (moderate evidence)
REEP1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • ?Neuronopathy, distal hereditary motor, type VB 614751
Tags
Amber Amber List (moderate evidence)
SETX
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Amyotrophic lateral sclerosis 4, juvenile 602433
Tags
Amber Amber List (moderate evidence)
VAMP1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • presynaptic CMS
  • Congenital myasthenic syndrome
Tags
Amber Amber List (moderate evidence)
VAPB
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Amyotrophic lateral sclerosis 8 608627
  • Spinal muscular atrophy, late-onset, Finkel type 182980
Tags
Amber Amber List (moderate evidence)
VPS33B
0 reviews
Unknown
Sources
  • Expert Review Amber
Phenotypes
  • vacuolar myopathy?
Tags
Red Red List (low evidence)
AARS
1 review
Unknown
Sources
  • Expert Review Red
Tags
  • new-gene-name
Red Red List (low evidence)
ALG14
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227
  • Congenital myasthenic syndrome
Tags
Red Red List (low evidence)
AMPD1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Rhabdomyolysis
Tags
Red Red List (low evidence)
ATP2A1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Brody myopathy, 601003
  • Brody Myopathy
Tags
Red Red List (low evidence)
BSCL2
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
BVES
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2X
Tags
Red Red List (low evidence)
COL4A2
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
COL9A3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Epiphyseal dysplasia, multiple, 3, with or without myopathy 600969
Tags
Red Red List (low evidence)
CPT1B
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
CYP2C8
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Rhabdomyolysis, cerivastatin-induced
Tags
Red Red List (low evidence)
DCTN1
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
DMPK
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • MYOTONIC DYSTROPHY 1 (DM1)
  • Myotonic dystrophy 1 160900
  • spinal muscular atrophy, myotonic dystrophy (type 1), Prader-Willi syndrome, Angelman syndrome, and maternal UPD 14.
Tags
Red Red List (low evidence)
DNAJB2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Spinal muscular atrophy, distal, autosomal recessive, 5, 614881
Tags
Red Red List (low evidence)
DUX4
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1 (FSHD1A)
  • Facioscapulohumeral muscular dystrophy, 158900
  • Facioscapulohumeral Muscular Dystrophy 1A
Tags
Red Red List (low evidence)
ECEL1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Arthrogryposis, distal, type 5D 615065
Tags
Red Red List (low evidence)
FAM111B
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonaryfibrosis, 615704 (3)
Tags
Red Red List (low evidence)
FBP2
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
FBXO38
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Neuronopathy, distal hereditary motor, type IID 615575
Tags
Red Red List (low evidence)
GARS
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Distal Spinal Muscular Atrophy
Tags
  • new-gene-name
Red Red List (low evidence)
GFER
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076
Tags
Red Red List (low evidence)
HNRNPA1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal
Tags
Red Red List (low evidence)
HRAS
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Costello syndrome 218040
  • Congenital myopathy with excess of muscle spindles 218040
Tags
Red Red List (low evidence)
HSPB3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • ?Neuronopathy, distal hereditary motor, type IIC 613376
Tags
Red Red List (low evidence)
KLHL9
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • distal myopathy (no OMIM number)
Tags
Red Red List (low evidence)
LAMB2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations
  • synaptic congenital myasthenic syndrome
  • Congenital myasthenic syndrome
Tags
Red Red List (low evidence)
LIMS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2W
Tags
Red Red List (low evidence)
MEG3
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
MT-TL1
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Red
Phenotypes
  • MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
  • MELAS 540000
Tags
Red Red List (low evidence)
MYBPC1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Lethal congenital contracture syndrome 4 614915
  • Arthrogryposis, distal, type 1B 614335
Tags
Red Red List (low evidence)
MYF6
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Myopathy, centronuclear, 3, 614408
  • Centronuclear Myopathy, Dominant
Tags
Red Red List (low evidence)
MYH14
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369
  • Deafness, autosomal dominant 4A 600652
Tags
Red Red List (low evidence)
OBSCN
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
PABPN1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Oculopharyngeal muscular dystrophy
  • Oculopharyngeal muscular dystrophy, 164300
Tags
Red Red List (low evidence)
PHKG1
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
PIEZO2
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Arthrogryposis
Tags
Red Red List (low evidence)
PLEKHG5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Spinal muscular atrophy, distal, autosomal recessive, 4, 611067
  • Distal Spinal Muscular Atrophy
Tags
Red Red List (low evidence)
PNPLA2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Neutral Lipid Storage Disease with Myopathy
  • Neutral lipid storage disease with myopathy, 610717
Tags
Red Red List (low evidence)
PREPL
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • congenital myasthenic syndrome with pre- and postsynaptic features and growth hormone deficiency
  • ?Myasthenic syndrome, congenital, 22, 616224
  • myasthenic syndrome
Tags
Red Red List (low evidence)
PUS1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Mitochondrial myopathy and sideroblastic anemia 1, 600462
  • Myopathy, Lactic Acidosis, and Sideroblastic Anemia
Tags
Red Red List (low evidence)
SIGMAR1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?Amyotrophic lateral sclerosis 16, juvenile 614373
Tags
Red Red List (low evidence)
SLC22A12
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Hypouricemia, renal
Tags
Red Red List (low evidence)
SLC25A42
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • muscle weakness, lactic acidosis, and muscle changes suggestive of mitochondrial dysfunction
Tags
Red Red List (low evidence)
SLC2A9
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Hypouricemia, renal, 2
Tags
Red Red List (low evidence)
SLC52A1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
SMCHD1
0 reviews
Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
Phenotypes
  • Fascioscapulohumeral muscular dystrophy 2, digenic, 158901
  • Fascioscapulohumeral muscular dystrophy 2, digenic
Tags
Red Red List (low evidence)
SNAP25
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • ?Myasthenic syndrome, congenital, 18, 616330
Tags
Red Red List (low evidence)
SNRPN
0 reviews
Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
Phenotypes
  • Prader-Willi syndrome
Tags
Red Red List (low evidence)
SPTBN4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?Myopathy, congenital, with neuropathy and deafness, 617519
Tags
Red Red List (low evidence)
STIM2
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
SYNE2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Emery-Dreifuss Muscular Dystrophy
  • Emery-Dreifuss muscular dystrophy 5, autosomal dominant
  • Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999
Tags
Red Red List (low evidence)
SYT2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Myasthenic syndrome, congenital, 7, presynaptic, 616040
Tags
Red Red List (low evidence)
TMEM43
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Emery-Dreifuss muscular dystrophy 7, AD 614302
Tags
Red Red List (low evidence)
TNNI2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Arthrogryposis multiplex congenita, distal, type 2B 601680
Tags
Red Red List (low evidence)
TNNT3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Arthyrogryposis, distal, type 2B 601680
Tags
Red Red List (low evidence)
UBQLN1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Brown-Vialetto-Van Laere syndrome/ atypical motor neurone disease
Tags
Red Red List (low evidence)
YARS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Hereditary Sideroblastic Anemia with Myopathy and LacticAcidosis
  • Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561
Tags

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