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Mendeliome

Gene: SLC24A5

Green List (high evidence)

SLC24A5 (solute carrier family 24 member 5)
EnsemblGeneIds (GRCh38): ENSG00000188467
EnsemblGeneIds (GRCh37): ENSG00000188467
OMIM: 609802, Gene2Phenotype
SLC24A5 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 4 Jun 2021, 10:05 a.m. | Last Modified: 4 Jun 2021, 10:05 a.m.
Panel Version: 0.7838

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Albinism, oculocutaneous, type VI, MIM# 113750

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Albinism, oculocutaneous, type VI, MIM# 113750
OMIM
609802
Clinvar variants
Variants in SLC24A5
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: slc24a5 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: SLC24A5 were changed from to Albinism, oculocutaneous, type VI, MIM# 113750

4 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC24A5 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: SLC24A5 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: SLC24A5 was added gene: SLC24A5 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC24A5 was set to Unknown