Ocular and oculo-cutaneous albinism
Gene: SLC24A5

SLC24A5 (solute carrier family 24 member 5)
EnsemblGeneIds (GRCh38): ENSG00000188467
EnsemblGeneIds (GRCh37): ENSG00000188467
OMIM: 609802, Gene2Phenotype
SLC24A5 is in 7 panels

3 reviews

Luke Michaels (University of Southampton; University Hospital Southampton NHS Foundation Trus)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ALBINISM, OCULOCUTANEOUS, TYPE VI

Publications

Created: 13 Jul 2017, 9:20 p.m.

Panel version: 1.5

Ellen McDonagh (Genomics England Curator)

Comment 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.

Created: 5 Sep 2016, 3:43 p.m.

Panel version: 0.15

Penny Clouston (Oxford)

Green List (high evidence)

Phenotypes
oculo-cutaneous albinism

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Sep 2016, 12:42 p.m.

Panel version: 0.6

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Emory Genetics Laboratory

Phenotypes

Albinism, oculocutaneous, type VI
Non-Syndromic Oculocutaneous Albinism

OMIM

609802

Clinvar variants

Variants in SLC24A5

Penetrance

Complete

Publications

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

Panels with this gene