MYH14

myosin heavy chain 14
OMIM: 608568, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green MYH14 in Mendeliome


Version 1.3795

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal dominant 4A, MIM# 600652
  • Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369

Green MYH14 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.304

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal dominant 4A, MIM# 600652

Green MYH14 in Hereditary Neuropathy - complex


Level 2: Neurology and neurodevelopmental disorders
Version 1.45

Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Peripheral neuropathy, myopathy, hoarseness, and hearing loss MIM#614369

    Green MYH14 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Deafness, autosomal dominant

    Red MYH14 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Deafness, autosomal dominant 4A, MIM# 600652
    • Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369