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Prepair 1000+

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 8 panels

2 reviews

Lilian Downie (Victorian Clinical Genetics Services)

Comment when marking as ready: Gene also known as MATP
Created: 26 Sep 2024, 5:52 a.m. | Last Modified: 26 Sep 2024, 5:52 a.m.
Panel Version: 1.330
Created: 26 Sep 2024, 5:52 a.m.
Last Modified: 26 Sep 2024, 5:52 a.m.
Panel version: 1.330

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Disorder of pigmentation of skin, hair, and eyes. The degree of hypopigmentation varies from mild to severe. Hair colour ranges from white through yellow and blond to brown, with grey, blue-grey, or brown irises. Nystagmus may be present. Other ocular issues include decreased visual acuity, macular hypoplasia, optic dysplasia, or atypical choroidal vessels. Well established gene-disease association, multiple families reported. Vision likely to be stable after early childhood.
Created: 25 Sep 2024, 11:38 a.m. | Last Modified: 25 Sep 2024, 11:38 a.m.
Panel Version: 1.322

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Albinism, oculocutaneous, type IV MIM#606574

Publications

Created: 25 Sep 2024, 11:38 a.m.
Last Modified: 25 Sep 2024, 11:38 a.m.
Panel version: 1.322

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Albinism, oculocutaneous, type IV, 606574 (3)
OMIM
606202
Clinvar variants
Variants in SLC45A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: slc45a2 has been classified as Green List (High Evidence).

26 Sep 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: SLC45A2 were set to 11574907; 14722913; 14961451

26 Sep 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: SLC45A2 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Albinism, oculocutaneous, type IV, 606574 (3) for gene: SLC45A2

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC45A2 was added gene: SLC45A2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC45A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC45A2 were set to Albinism, oculocutaneous, type IV, 606574 (3)