MYH14

myosin heavy chain 14
OMIM: 608568, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Red MYH14 in Other rare neuromuscular disorders Version 19.202 Latest signed off version: v19.1 (22 Mar 2023)	review	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
Red MYH14 in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 5.31 Latest signed off version: v5.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes Deafness, autosomal dominant 4A, 600652Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369
Red MYH14 in Congenital myopathy Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.37 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Radboud University Medical Center, Nijmegen Phenotypes ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, OMIM:614369
Red MYH14 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.32 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369
Amber MYH14 in Non-syndromic familial congenital anorectal malformations Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ARM with recto-perineal fistulas Tags watchlist
Amber MYH14 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.477	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber London North GLH NHS GMS South West GLH Expert Review Phenotypes ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369
Green MYH14 in Monogenic hearing loss Level 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 4.38 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Radboud University Medical Center, Nijmegen Emory Genetics Laboratory UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Nonsyndromic Hearing Loss, Dominant Deafness, autosomal dominant 4A, 600652 ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369
Green MYH14 in Hereditary neuropathy or pain disorder Version 3.94 Latest signed off version: v3.24 (15 May 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review South West GLH London North GLH NHS GMS London North GLH NHS GMS South West GLH Phenotypes ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, OMIM:614369
Green MYH14 in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 Deafness, autosomal dominant 4A, 600652