Neuromuscular disorders (Version 1.11)

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

Panel Activity

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
Filter Entities 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

Major version comments

2019-01-08 18:36 Louise Daugherty (Genomics England Curator) promoted panel to 1.0
Checked against super panel made up of the panel constituents. Ready to promote to version 1

Neuromuscular disorders (Version 1.11)

4 reviewers

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