Ocular and oculo-cutaneous albinism
Gene: SLC24A5Comment on list classification: Literature search revealed additional cases to promote this gene to green.
Created: 7 Sep 2016, 4:08 p.m.
Comment on list classification: Gene found in 1/4 original sources, and rated green by expert reviewer. One case reported in OMIM for different variants in a patients with Albinism, oculocutaneous, type VI; literature search needed to confirm >3 cases.Created: 5 Sep 2016, 3:43 p.m.
Phenotypes
oculo-cutaneous albinism
Variants in this GENE are reported as part of current diagnostic practice
13.09.2016: Panel internally revised after expert review, and approved to version 1.
Phenotypes for SLC24A5 were set to Albinism, oculocutaneous, type VI;Non-Syndromic Oculocutaneous Albinism
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for SLC24A5 were set to 23364476 - case report of patient of Chinese origin; 27129268 - functional data to support the phenotypic effects of variants reported; 26686029 case identified in a cohort South-Italian origin; 23985994 - homozygous variants identified in an additional 5 patients with Non-Syndromic Oculocutaneous Albinism
This gene has been classified as Red List (Low Evidence).
SLC24A5 was added to Ocular and oculo-cutaneous albinismpanel. Sources: Emory Genetics Laboratory
SLC24A5 was created by oniblock