Pigmentary skin disorders

Gene: MYO5A

Green List (high evidence)

MYO5A (myosin VA)
EnsemblGeneIds (GRCh38): ENSG00000197535
EnsemblGeneIds (GRCh37): ENSG00000197535
OMIM: 160777, Gene2Phenotype
MYO5A is in 8 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
GRISCELLI SYNDROME, TYPE 1; GS1

Publications

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: MYO5A; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 11:31 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • GRISCELLI SYNDROME, TYPE 1
  • GS1
  • Griscelli syndrome
OMIM
160777
Clinvar variants
Variants in MYO5A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Dec 2019, Gel status: 3

Set Phenotypes, Set publications

Catherine Snow (Genomics England)

Added phenotypes GRISCELLI SYNDROME, TYPE 1; GS1 for gene: MYO5A Publications for gene MYO5A were changed from to 9207796

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to MYO5A.

31 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: MYO5A was added gene: MYO5A was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MYO5A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO5A were set to Griscelli syndrome