1. Panels
  2. Ocular and Oculocutaneous Albinism
  3. SLC45A2
STRs in panel
Prev Next
Regions in panel
Prev Next

Ocular and Oculocutaneous Albinism

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, multiple families reported.
Created: 4 Jun 2021, 9:57 a.m. | Last Modified: 4 Jun 2021, 9:57 a.m.
Panel Version: 0.55

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Albinism, oculocutaneous, type IV, MIM# 606574; MONDO:0011683

Publications

Created: 4 Jun 2021, 9:57 a.m.
Last Modified: 4 Jun 2021, 9:57 a.m.
Panel version: 0.55

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Albinism, oculocutaneous, type IV, MIM# 606574
  • MONDO:0011683
OMIM
606202
Clinvar variants
Variants in SLC45A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jun 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

4 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC45A2 were changed from to Albinism, oculocutaneous, type IV, MIM# 606574; MONDO:0011683

4 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC45A2 were set to

4 Jun 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC45A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC45A2 was added gene: SLC45A2 was added to Ocular and oculocutaneous albinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC45A2 was set to Unknown