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  3. SLC24A5
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Infantile nystagmus

Gene: SLC24A5

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

2 reviews

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: Imported from "Ocular and oculo-cutaneous albinism" 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: Imported from "Ocular and oculo-cutaneous albinism" panel version 0.6

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
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

History Filter Activity

21 Dec 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

21/Dec/2016: panel revised according to expert review, addition of green genes from the Ocular and oculo-cutaneous albinism (Version 1.1) gene panel and further curation.

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SLC24A5 was created by ellenmcdonagh

19 Dec 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC24A5 was added to Infantile nystagmuspanel. Sources: Expert Review Green