MYO5A

myosin VA
OMIM: 160777, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green MYO5A in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Griscelli syndrome, type 1 MIM#214450

Green MYO5A in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review Unknown
Sources
  • Genetic Health Queensland
  • Expert Review Green

Red MYO5A in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Griscelli syndrome

Amber MYO5A in Congenital nystagmus


Level 2: Ophthalmological disorders
Version 1.21

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • NHS Genomic Medicine Service
Phenotypes
  • Griscelli syndrome, type 1, MIM# 214450

Red MYO5A in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Griscelli syndrome, type 1 MIM#214450

Red MYO5A in BabyScreen+ newborn screening


Level 2: Screening
Version 1.114

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Griscelli syndrome