Albinism or congenital nystagmusGene: RAB27A
Initial gene list and info collated by Jonathan Callaway (Wessex Regional Genetics Laboratory) February 2019. Suggested intial gene rating: Green; Comments provided: 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. Comments from HGMDpro: STRONG EVIDENCE: 54 variants listed, most have Griscelli syndrome as the reported phenotype, including numerous LOF variants.
Created: 13 Feb 2019, 11:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Griscelli syndrome, type 2 607624 AR
Added phenotypes Griscelli syndrome, type 2 607624 AR for gene: RAB27A Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene: rab27a has been classified as Green List (High Evidence).
gene: RAB27A was added gene: RAB27A was added to Albinism or congenital nystagmus. Sources: Expert list Mode of inheritance for gene: RAB27A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAB27A were set to Griscelli syndrome, type 2 607624 AR