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  3. SLC25A13
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Cholestasis

Gene: SLC25A13

Green List (high evidence)
SLC25A13 (solute carrier family 25 member 13)
EnsemblGeneIds (GRCh38): ENSG00000004864
EnsemblGeneIds (GRCh37): ENSG00000004864
OMIM: 603859, Gene2Phenotype
SLC25A13 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Cholestasis is part of the phenotype.
Created: 8 Dec 2024, 9:23 a.m. | Last Modified: 8 Dec 2024, 9:23 a.m.
Panel Version: 0.282

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Citrullinemia, type II, neonatal-onset, MIM# 605814

Created: 8 Dec 2024, 9:23 a.m.
Last Modified: 8 Dec 2024, 9:23 a.m.
Panel version: 0.282

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Citrullinemia, type II, neonatal-onset, MIM# 605814
OMIM
603859
Clinvar variants
Variants in SLC25A13
Penetrance
None
Panels with this gene

History Filter Activity

8 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc25a13 has been classified as Green List (High Evidence).

8 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC25A13 were changed from to Citrullinemia, type II, neonatal-onset, MIM# 605814

8 Dec 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC25A13 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: SLC25A13 was added gene: SLC25A13 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC25A13 was set to Unknown