Neuromuscular arthrogryposis (Version 0.26)

This Panel is marked as Internal

Description

“This panel has been superseded by R80, R81 or R83.  Clinicians requesting R266 should consider one of these other panels instead”.

Panel Activity

3 reviewers

Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Rachael Mein (Viapath at Guy's Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Michael Oldridge (NHS)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab

40 Entities

40 reviewed, 31 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 40 Entitiess
Green Green List (high evidence)	ACTA1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Phenotypes Myopathy, actin, congenital, with excess of thin myofilaments 161800 Myopathy, congenital, with fiber-type disproportion 1, 255310 Nemaline myopathy 3, 161800 Myopathy, actin, congenital, with cores, 161800 Tags
Green Green List (high evidence)	CHRNA1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Multiple pterygium syndrome, lethal type, 253290 Tags
Green Green List (high evidence)	CHRNB1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes LMPS Tags
Green Green List (high evidence)	CHRND	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Multiple pterygium syndrome, lethal type, 253290 Tags
Green Green List (high evidence)	CHRNG	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Escobar syndrome, 265000 Multiple pterygium syndrome, lethal type, 253290 Tags
Green Green List (high evidence)	DNM2	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Phenotypes Myopathy, centronuclear, 160150 Tags
Green Green List (high evidence)	DOK7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes FADS FETAL AKINESIA DEFORMATION SEQUENCE, 208150 Tags
Green Green List (high evidence)	DPAGT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Tags
Green Green List (high evidence)	ECEL1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Phenotypes Arthrogryposis, distal, type 5D, 615065 Tags
Green Green List (high evidence)	LMOD3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Phenotypes Nemaline myopathy 10 616165 Tags
Green Green List (high evidence)	MUSK	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes FADS 208150 FETAL AKINESIA DEFORMATION SEQUENCE Tags
Green Green List (high evidence)	MYBPC1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Phenotypes Lethal congenital contracture syndrome 4, 614915 Arthrogryposis, distal, type 1B 614335 Tags
Green Green List (high evidence)	MYH3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH NHS GMS Phenotypes Arthrogryposis, distal, type 8, 178110 Arthrogryposis, distal, type 2A 193700 Arthrogryposis, distal, type 2B 601680 Tags
Green Green List (high evidence)	MYH7	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Phenotypes Laing Distal Myopathy, 160500 Tags
Green Green List (high evidence)	MYH8	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH NHS GMS Phenotypes Trismus-pseudocamptodactyly syndrome, 158300 Tags
Green Green List (high evidence)	MYL1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Phenotypes congenital myopathy Tags
Green Green List (high evidence)	NEB	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Phenotypes Nemaline myopathy 2, autosomal recessive, 256030 Nemaline Myopathy, Recessive nemaline myopathy Tags
Green Green List (high evidence)	ORAI1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH NHS GMS Phenotypes Myopathy, tubular aggregate, 2, 615883 Tags
Green Green List (high evidence)	PIEZO2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Phenotypes Arthrogryposis, distal, type 3, 114300: Arthrogryposis, distal, type 5, 108145 Arthrogryposis, distal, with proprioception and touch, 617146 Tags
Green Green List (high evidence)	RAPSN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes FADS FETAL AKINESIA DEFORMATION SEQUENCE, 208150 Tags
Green Green List (high evidence)	RYR1	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Wessex and West Midlands GLH Phenotypes Neuromuscular disease, congenital, with uniform type 1 fiber 117000 Malignant hyperthermia susceptibility 1 145600 Central core disease 117000 Minicore myopathy with external ophthalmoplegia 255320 Tags
Green Green List (high evidence)	STAC3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Phenotypes Myopathy, congenital, Baily-Bloch, 255995 Tags
Green Green List (high evidence)	STIM1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH NHS GMS Phenotypes Myopathy, tubular aggregate, 160565 Tags
Green Green List (high evidence)	TNNI2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH NHS GMS Phenotypes Arthrogryposis multiplex congenita, distal, type 2B, 601680 Tags
Green Green List (high evidence)	TNNT3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH NHS GMS Phenotypes Arthyrogryposis, distal, type 2B, 601680 Tags
Green Green List (high evidence)	TPM2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH NHS GMS Phenotypes CAP myopathy 2 609285 Nemaline myopathy 4, autosomal dominant, 609285 Tags
Green Green List (high evidence)	TPM3	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Phenotypes CAP myopathy 1, 609284 Myopathy, congenital, with fiber-type disproportion, 255310 Nemaline myopathy 1, autosomal dominant or recessive, 609284 Tags
Green Green List (high evidence)	TTN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Phenotypes Myopathy, early-onset, with fatal cardiomyopathy, 611705 Tags
Green Green List (high evidence)	VAMP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes presynaptic CMS Congenital myasthenic syndrome Tags
Green Green List (high evidence)	VPS33B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Phenotypes Arthrogryposis renal dysfunction, and cholestasis 1, 208085 Tags
Green Green List (high evidence)	ZC4H2	2 reviews 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 Review Green London South GLH NHS GMS Phenotypes Wieacker-Wolff syndrome, 314580 Tags
Amber Amber List (moderate evidence)	ALG14	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Phenotypes ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227 Congenital myasthenic syndrome Tags
Amber Amber List (moderate evidence)	ALG2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Phenotypes Congenital myasthenic syndromes Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 Congenital disorder of glycosylation CDG type Ii, 607906 Tags
Amber Amber List (moderate evidence)	CHAT	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Phenotypes arthrogryposis Tags
Amber Amber List (moderate evidence)	GMPPB	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Tags
Amber Amber List (moderate evidence)	MYO9A	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Phenotypes Congenital myasthenic syndrome 24, presynaptic 618198 CMS Tags
Amber Amber List (moderate evidence)	SCN4A	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Phenotypes contractures Tags
Amber Amber List (moderate evidence)	SLC18A3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Phenotypes Myasthenic syndrome, congenital, 21, presynaptic, 617239 Tags
Amber Amber List (moderate evidence)	SLC5A7	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Tags
Amber Amber List (moderate evidence)	TOR1AIP1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Tags

Neuromuscular arthrogryposis (Version 0.26)

3 reviewers

40 Entities

40 reviewed, 31 green

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