Albinism or congenital nystagmus
Gene: MYO5A
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
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)
gene: MYO5A was added gene: MYO5A was added to Albinism or congenital nystagmus. Sources: NHS GMS Mode of inheritance for gene: MYO5A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO5A were set to Griscelli syndrome, type 1 214450 AR