Infantile nystagmus
Gene: SLC45A2
SLC45A2 (solute carrier family 45 member 2)
EnsemblGeneIds (GRCh38): ENSG00000164175
EnsemblGeneIds (GRCh37): ENSG00000164175
OMIM: 606202, Gene2Phenotype
SLC45A2 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000164175
EnsemblGeneIds (GRCh37): ENSG00000164175
OMIM: 606202, Gene2Phenotype
SLC45A2 is in 9 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)
Phenotypes
oculo-cutaneous albinism
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Oculocutaneous albinism type IV,606574
- skin/hair/eye pigmentation 5,227240
- Oculocutaneous Albinism
- Albinism, oculocutaneous, type IV
- OMIM
- 606202
- Clinvar variants
- Variants in SLC45A2
- Penetrance
- Complete
- 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)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