MYO5A:Ensemblv90

myosin VA
OMIM: 160777, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green MYO5A in Mendeliome


Version 1.3802

1 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 1.508

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Griscelli syndrome, type 1 MIM#214450

Red MYO5A in Additional findings_Paediatric


Level 2: Screening
Version 0.278

0 reviews 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 1.23

2 reviews 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 1.482

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

Red MYO5A in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.141

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

Green MYO5A in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Genetic Health Queensland
  • Expert Review Green
Phenotypes
  • Griscelli syndrome, type 1 MIM#214450

Amber MYO5A in Congenital nystagmus


Level 2: Ophthalmological disorders
Version 2.0

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