Vici Syndrome and other autophagy 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
Olivia Niblock (Genomics England Curator)
Comment on list classification: Phenotypic link between Griscelli syndrome, type 1 and mutations in this gene noted in Radboud and Emory. This is supported by literature search, PMID 22711375, where three unrelated cases noted.Created: 29 Jun 2017, 7:42 a.m.
Ellen McDonagh (Genomics England Curator)
Is a confirmed DD gene for Griscelli syndrome 3, and Elejalde syndrome.
Created: 29 Apr 2016, 7:41 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Griscelli syndrome 1
- OMIM
- 160777
- Clinvar variants
- Variants in MYO5A
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
31 Jul 2017, Gel status: 4
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31st July 2017: Panel revised according to external review and input, further curation and internal clinical input.
29 Jun 2017, Gel status: 4
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Green List (High Evidence).
29 Jun 2017, Gel status: 0
Set publications
Olivia Niblock (Genomics England Curator)Publications for MYO5A were set to 26927810; 22711375
29 Jun 2017, Gel status: 0
Set publications
Olivia Niblock (Genomics England Curator)Publications for MYO5A were set to 26927810; 22711375
29 Apr 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)MYO5A was added to Vici Syndrome and other autophagy disorderspanel. Sources: Literature
29 Apr 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)MYO5A was created by ellenmcdonagh