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  3. SLC30A10
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Cholestasis

Gene: SLC30A10

Red List (low evidence)
SLC30A10 (solute carrier family 30 member 10)
EnsemblGeneIds (GRCh38): ENSG00000196660
EnsemblGeneIds (GRCh37): ENSG00000196660
OMIM: 611146, Gene2Phenotype
SLC30A10 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Hepatomegaly and cirrhosis, not specifically cholestasis.
Created: 9 Aug 2020, 10:58 a.m. | Last Modified: 9 Aug 2020, 10:58 a.m.
Panel Version: 0.157

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypermanganesemia with dystonia 1, MIM# 613280

Created: 9 Aug 2020, 10:58 a.m.
Last Modified: 9 Aug 2020, 10:58 a.m.
Panel version: 0.157

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypermanganesemia with dystonia 1, MIM# 613280
OMIM
611146
Clinvar variants
Variants in SLC30A10
Penetrance
None
Panels with this gene

History Filter Activity

9 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc30a10 has been classified as Red List (Low Evidence).

9 Aug 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC30A10 were changed from to Hypermanganesemia with dystonia 1, MIM# 613280

9 Aug 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC30A10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

9 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc30a10 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC30A10 was added gene: SLC30A10 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC30A10 was set to Unknown