MYO1H

myosin IH
OMIM: 614636, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red MYO1H in Familial dysautonomia


Version 1.18

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • ?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM:619482
Red MYO1H in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Red
    Phenotypes
    • ?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM:619482
    Red MYO1H in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.123
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Red
    Phenotypes
    • ?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM:619482
    Red MYO1H in Intellectual disability


    Level 2: Developmental disorders
    Version 9.280
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Red
    Phenotypes
    • ?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM:619482