MYO5A

myosin VA
OMIM: 160777, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green MYO5A in Vici Syndrome and other autophagy disorders

Level 3: Autophagy disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.2

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Griscelli syndrome 1

Green MYO5A in Pigmentary skin disorders


Version 1.50
Latest signed off version: v1.4 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • GRISCELLI SYNDROME, TYPE 1
  • GS1
  • Griscelli syndrome

Amber MYO5A in Albinism or congenital nystagmus


Version 1.23
Latest signed off version: v1.2 (3 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Griscelli syndrome, type 1 214450 AR

Red MYO5A in Autism


Version 0.22

review Not set
Sources
  • Expert Review Red
  • SFARI

Red MYO5A in Fetal anomalies


Version 1.880
Latest signed off version: v1.92 (21 Aug 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GRISCELLI SYNDROME TYPE 3
  • ELEJALDE SYNDROME

Green MYO5A in DDG2P


Version 2.76
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ELEJALDE SYNDROME 256710
    • GRISCELLI SYNDROME TYPE 3 609227

    Green MYO5A in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1651
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Griscelli syndrome, type 1, 214450
    • ELEJALDE SYNDROME (ELEJAS)

    Green MYO5A in Severe Paediatric Disorders


    Version 1.127

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Griscelli syndrome, type 1, 214450