Structural eye disease
Gene: SLC45A2

SLC45A2 (solute carrier family 45 member 2)
EnsemblGeneIds (GRCh38): ENSG00000164175
EnsemblGeneIds (GRCh37): ENSG00000164175
OMIM: 606202, Gene2Phenotype
SLC45A2 is in 9 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

ocular albinism and nystagmus gene, no evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Albinism, oculocutaneous, type IV; [Skin/hair/eye pigmentation 5, black/nonblack hair]; [Skin/hair/eye pigmentation 5, dark/fair skin]; [Skin/hair/eye pigmentation 5, dark/light eyes] ; 606574; 227240; 227240; 227240

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). ocular albinism and nystagmus gene, no evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Albinism, oculocutaneous, type IV, 606574; [Skin/hair/eye pigmentation 5, black/nonblack hair]; [Skin/hair/eye pigmentation 5, dark/fair skin]; [Skin/hair/eye pigmentation 5, dark/light eyes], 227240

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.48

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Red

Phenotypes

[Skin/hair/eye pigmentation 5, black/nonblack hair]
[Skin/hair/eye pigmentation 5, dark/fair skin]
Albinism, oculocutaneous, type IV, 606574
[Skin/hair/eye pigmentation 5, dark/light eyes], 227240
Eye Disorders

OMIM

606202

Clinvar variants

Variants in SLC45A2

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SLC45A2. Mode of inheritance for gene SLC45A2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes [Skin/hair/eye pigmentation 5, dark/light eyes], 227240; [Skin/hair/eye pigmentation 5, dark/fair skin]; [Skin/hair/eye pigmentation 5, black/nonblack hair]; Albinism, oculocutaneous, type IV, 606574 for gene: SLC45A2

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: SLC45A2 was added gene: SLC45A2 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: SLC45A2 was set to Phenotypes for gene: SLC45A2 were set to Eye Disorders

Structural eye disease Gene: SLC45A2