Pigmentary skin disorders
Gene: MYO5A
MYO5A (myosin VA)
EnsemblGeneIds (GRCh38): ENSG00000197535
EnsemblGeneIds (GRCh37): ENSG00000197535
OMIM: 160777, Gene2Phenotype
MYO5A is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000197535
EnsemblGeneIds (GRCh37): ENSG00000197535
OMIM: 160777, Gene2Phenotype
MYO5A is in 6 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GRISCELLI SYNDROME, TYPE 1; GS1
Publications
Rebecca Foulger (Genomics England curator)
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
-
- London North GLH
- NHS GMS
- Expert Review Green
- 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