Genomics England

Other rare neuromuscular disorders (Version: )

There is a more recent signed-off version of this panel

Relevant disorders: Neuromuscular disorders, R381

This panel contains these 7 panels:

Rhabdomyolysis and metabolic muscle disorders
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Distal myopathies
Congenital myopathy
Congenital myaesthenic syndrome
Paediatric motor neuronopathies
Congenital muscular dystrophy

Signed off date: 7 Aug 2024

Panel types: GMS Rare Disease Virtual, Super Panel, GMS signed-off

See this panel in PanelApp

214 unique green entities

Entity rating	Entity	Mode of inheritance	Mode of pathogenicity	Tags
Green	ABHD5 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACAD9 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADM Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADVL Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACADVL Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ACTA1 Distal myopathies	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	ACTA1 Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	ACTN2 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ADSSL1 Distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ADSSL1 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	Other	new-gene-name
Green	AGL Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AGRN Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALDOA Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG14 Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ALG2 Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AMPD1 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANO5 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANO5 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ANO5 Distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	AR_CAG Congenital myopathy STR	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	STR
Green	AR_CAG Distal myopathies STR	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	STR
Green	AR_CAG Paediatric motor neuronopathies STR	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	STR
Green	ASAH1 Paediatric motor neuronopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ASCC3 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B3GALNT2 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	B4GAT1 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	BAG3 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BAG3 Distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BICD2 Paediatric motor neuronopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	BIN1 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist_moi
Green	CACNA1S Rhabdomyolysis and metabolic muscle disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CACNA1S Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CAPN3 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	Q2_23_MOI
Green	CAV3 Rhabdomyolysis and metabolic muscle disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	CAV3 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CAVIN1 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CCDC78 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	Q4_22_demote_amber, Q4_22_expert_review
Green	CFL2 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHAT Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHCHD10 Paediatric motor neuronopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	CHKB Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHKB Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CHRNA1 Congenital myaesthenic syndrome	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	CHRNB1 Congenital myaesthenic syndrome	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	deletions
Green	CHRND Congenital myaesthenic syndrome	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	CHRNE Congenital myaesthenic syndrome	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CHRNG Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COL12A1 Congenital muscular dystrophy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL12A1 Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL13A1 Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	COL6A1 Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL6A1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL6A1 Congenital muscular dystrophy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL6A2 Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL6A2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL6A2 Congenital muscular dystrophy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL6A3 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL6A3 Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COL6A3 Congenital muscular dystrophy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	COLQ Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	COQ4 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COQ8A Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	COX6A2 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CPT2 Rhabdomyolysis and metabolic muscle disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CPT2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	CRYAB Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	CRYAB Distal myopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DAG1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DAG1 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist_moi
Green	DES Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	DES Distal myopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	DGUOK Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DMD Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	gene-therapy-trial, Skewed X-inactivation
Green	DMD Congenital muscular dystrophy	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	gene-therapy-trial, Skewed X-inactivation
Green	DMD Rhabdomyolysis and metabolic muscle disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	gene-therapy-trial, Skewed X-inactivation
Green	DMPK_CTG Congenital myopathy STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	DMPK_CTG Congenital muscular dystrophy STR	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	STR
Green	DNAJB6 Distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNAJB6 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	DNM2 Distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DNM2 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense, watchlist_moi
Green	DOK7 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOK7 Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	treatable
Green	DOK7 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DOLK Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPAGT1 Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DPM2 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYNC1H1 Paediatric motor neuronopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	DYSF Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYSF Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	DYSF Distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ECEL1 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EMD Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	ENO3 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EPG5 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFA Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFB Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ETFDH Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	EXOSC3 Paediatric motor neuronopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FDX2 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FHL1 Congenital muscular dystrophy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	FHL1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	FHL1 Distal myopathies	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	FKBP14 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKRP Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKRP Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKRP Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKTN Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FKTN Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	structural-variant
Green	FLAD1 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	FLNC Distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FLNC Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	FXR1 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAA Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GAA Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GBE1 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GFPT1 Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GGPS1 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPB Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPB Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPB Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GMPPB Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNE Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GNE Distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GYG1 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	GYS1 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HACD1 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HADHA Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HADHB Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	HNRNPA2B1 Congenital muscular dystrophy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HNRNPA2B1 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HNRNPDL Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	HSPB1 Distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	HSPB8 Distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	IGHMBP2 Paediatric motor neuronopathies	BIALLELIC, autosomal or pseudoautosomal	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	INPP5K Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ISCA-37404-Loss Paediatric motor neuronopathies 15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37408-Loss Paediatric motor neuronopathies 2p15p16.1 region (includes BCL11A) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37408-Loss Congenital myopathy 2p15p16.1 region (includes BCL11A) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37420-Loss Congenital myopathy 17q21.3 recurrent region (includes KANSL1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37420-Loss Paediatric motor neuronopathies 17q21.3 recurrent region (includes KANSL1) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37429-Loss Congenital myopathy 4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37429-Loss Paediatric motor neuronopathies 4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCA-37478-Loss Paediatric motor neuronopathies 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss region	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	ISCU Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	non-coding-known-pathogenic
Green	ISPD Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ISPD Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	ITGA7 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	JAG2 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KBTBD13 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	KLHL40 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	KLHL41 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMA2 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMA2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LAMP2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	LAMP2 Rhabdomyolysis and metabolic muscle disorders	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	LARGE1 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LDB3 Distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	LDHA Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LMNA Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LMNA Congenital muscular dystrophy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LMNA Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	LMOD3 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LPIN1 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LPIN1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	LRP4 Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MAP3K20 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MATR3 Distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MEGF10 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MICU1 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MICU1 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MLIP Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MSTO1 Congenital muscular dystrophy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	Q1_24_MOI
Green	MT-CO1 Rhabdomyolysis and metabolic muscle disorders	MITOCHONDRIAL	N/A	gene-checked
Green	MT-CO2 Rhabdomyolysis and metabolic muscle disorders	MITOCHONDRIAL	N/A	gene-checked
Green	MTM1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	MTM1 Congenital myopathy	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	MUSK Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	deletions
Green	MYBPC1 Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MYH2 Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	MYH3 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	Q2_23_MOI, Q2_23_NHS_review
Green	MYH7 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	Q4_22_MOI, Q2_23_NHS_review
Green	MYH7 Distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYH7 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	Q4_22_MOI
Green	MYL1 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYL2 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYMK Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYO18B Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYO9A Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYOD1 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	MYOT Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYOT Distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	MYPN Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	NEB Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	watchlist_moi
Green	NEB Distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	OBSCN Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	ORAI1 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	ORAI1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	PAX7 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PFKM Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PFKM Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGAM2 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PGK1 Rhabdomyolysis and metabolic muscle disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PGM1 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PHKA1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PHKA1 Rhabdomyolysis and metabolic muscle disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	PIEZO2 Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	PLEC Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLEC Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PLEC Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	monogenic-polygenic
Green	PNPLA2 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POLG Rhabdomyolysis and metabolic muscle disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POLG2 Rhabdomyolysis and metabolic muscle disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT1 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMGNT2 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMK Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT1 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	POMT2 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PRKAG2 Rhabdomyolysis and metabolic muscle disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	PYGM Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYGM Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	PYROXD1 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RAPSN Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RBCK1 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	RRM2B Rhabdomyolysis and metabolic muscle disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RYR1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RYR1 Rhabdomyolysis and metabolic muscle disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	RYR1 Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	pharmacogenetics, treatable
Green	RYR3 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCN4A Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCN4A Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SCN4A Rhabdomyolysis and metabolic muscle disorders	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SELENON Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SELENON Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SELENON Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGCA Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGCA Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGCB Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGCD Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SGCG Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SIL1 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SIL1 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC18A3 Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC22A5 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A1 Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SLC25A4 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	SLC52A2 Paediatric motor neuronopathies	BIALLELIC, autosomal or pseudoautosomal	Loss-of-function variants DO NOT cause this phenotype	treatable
Green	SLC52A3 Paediatric motor neuronopathies	BIALLELIC, autosomal or pseudoautosomal	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	SLC5A7 Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SMN1 Paediatric motor neuronopathies	BIALLELIC, autosomal or pseudoautosomal	Loss-of-function variants DO NOT cause this phenotype	cnv, gene-therapy-trial
Green	SMPX Distal myopathies	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Loss-of-function variants DO NOT cause this phenotype	N/A
Green	SPEG Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SPG11 Paediatric motor neuronopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SQSTM1 Distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	STAC3 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	STIM1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	STIM1 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	missense
Green	SUCLA2 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	SYNE1 Congenital muscular dystrophy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SYNE1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	SYNE2 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	SYT2 Congenital myaesthenic syndrome	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TAMM41 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TANGO2 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TCAP Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TIA1 Distal myopathies	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	N/A	N/A
Green	TK2 Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TMEM5 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	new-gene-name
Green	TNNC2 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TNNI2 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TNNT1 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	Q2_23_MOI, Q2_23_NHS_review
Green	TNNT3 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TNPO3 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TOR1AIP1 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TPM2 Congenital myopathy	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	watchlist_moi, Q2_23_MOI, Q2_23_NHS_review
Green	TPM3 Congenital myopathy	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TRAPPC11 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRAPPC11 Congenital muscular dystrophy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIM32 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIP4 Paediatric motor neuronopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRIP4 Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TRPV4 Paediatric motor neuronopathies	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	N/A	N/A
Green	TSFM Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTN Distal myopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	N/A	N/A
Green	TTN Congenital myopathy	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	TTN Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Other	N/A
Green	TYMP Rhabdomyolysis and metabolic muscle disorders	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	UBA1 Paediatric motor neuronopathies	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	N/A	N/A
Green	VAMP1 Congenital myaesthenic syndrome	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A
Green	VCP Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	VCP Distal myopathies	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	N/A	N/A
Green	VMA21 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	VMA21 Congenital myopathy	X-LINKED: hemizygous mutation in males, biallelic mutations in females	N/A	N/A
Green	VRK1 Paediatric motor neuronopathies	BIALLELIC, autosomal or pseudoautosomal	N/A	N/A

Other rare neuromuscular disorders (Version: 26.523.721.219.112.15.43)

Other rare neuromuscular disorders (Version: )