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  2. Cholestasis
  3. SLC40A1
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Cholestasis

Gene: SLC40A1

Red List (low evidence)
SLC40A1 (solute carrier family 40 member 1)
EnsemblGeneIds (GRCh38): ENSG00000138449
EnsemblGeneIds (GRCh37): ENSG00000138449
OMIM: 604653, Gene2Phenotype
SLC40A1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Not specifically associated with cholestasis.
Created: 9 Aug 2020, 11:01 a.m. | Last Modified: 9 Aug 2020, 11:01 a.m.
Panel Version: 0.160

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hemochromatosis, type 4, MIM# 606069

Created: 9 Aug 2020, 11:01 a.m.
Last Modified: 9 Aug 2020, 11:01 a.m.
Panel version: 0.160

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Hemochromatosis, type 4, MIM# 606069
OMIM
604653
Clinvar variants
Variants in SLC40A1
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: slc40a1 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: SLC40A1 were changed from to Hemochromatosis, type 4, MIM# 606069

9 Aug 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC40A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

9 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc40a1 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: SLC40A1 was added gene: SLC40A1 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC40A1 was set to Unknown