Infantile nystagmus

Gene: SLC45A2

Green List (high evidence)

SLC45A2 (solute carrier family 45 member 2)
EnsemblGeneIds (GRCh38): ENSG00000164175
EnsemblGeneIds (GRCh37): ENSG00000164175
OMIM: 606202, Gene2Phenotype
SLC45A2 is in 10 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene found in 3/4 sources, and rated green by expert reviewer. More than 3 cases reported in OMIM for different variants in patients with Albinism, oculocutaneous, type IV from different ethnicities.
Created: 5 Sep 2016, 12:55 p.m.

Penny Clouston (Oxford)

Green List (high evidence)

oculo-cutaneous albinism

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


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Green
  • Oculocutaneous albinism type IV,606574
  • skin/hair/eye pigmentation 5,227240
  • Oculocutaneous Albinism
  • Albinism, oculocutaneous, type IV
Clinvar variants
Variants in SLC45A2
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


Ellen McDonagh (Genomics England Curator)

SLC45A2 was created by ellenmcdonagh

19 Dec 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC45A2 was added to Infantile nystagmuspanel. Sources: Expert Review Green