Albinism or congenital nystagmus
Gene: MYO5A

MYO5A (myosin VA)
EnsemblGeneIds (GRCh38): ENSG00000197535
EnsemblGeneIds (GRCh37): ENSG00000197535
OMIM: 160777, Gene2Phenotype
MYO5A is in 6 panels

1 review

Jonathan Callaway (Wessex Regional Genetics Laboratory)

I don't know

Limited evidence for an association with hypopigmentation. Comments from OMIM: Griscelli syndrome is a rare autosomal recessive disorder that results in pigmentary dilution of the skin and the hair (silver hair), the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. In a patient with hypopigmentation without any immunologic or neurologic manifestations, Menasche et al. 2003 (PMID 12897212) identified a homozygous deletion of the F-exon of the MYO5A gene. Comments from HGMDpro: Only 12 variants in total; only 3 of these have Griscelli syndrome as the reported phenotype (one nonsense, one 47bp insertion and one deletion of the F-exon [Menasche et al 2003]).
Created: 20 Mar 2019, 4:11 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Griscelli syndrome, type 1 214450 AR

Created: 20 Mar 2019, 4:11 p.m.

Panel version: 0.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
NHS GMS

Phenotypes

Griscelli syndrome, type 1 214450 AR

OMIM

160777

Clinvar variants

Variants in MYO5A

Penetrance

None

Panels with this gene

History Filter Activity

20 Mar 2019, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to MYO5A. Added phenotypes Griscelli syndrome, type 1 214450 AR for gene: MYO5A Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

20 Mar 2019, Gel status: 1

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