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  2. Monogenic Diabetes
  3. SLC40A1
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Monogenic Diabetes

Gene: SLC40A1

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

1 review

Hali Van Niel (University of Melbourne)

Green List (high evidence)

Well established gene disease association for Hemochromatosis type 4, gain of function
If left untreated, iron overload may lead to diabetes mellitus
Created: 30 Apr 2024, 1:26 a.m. | Last Modified: 30 Apr 2024, 1:26 a.m.
Panel Version: 0.52

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
hemochromatosis type 4 MONDO:0011631; diabetes mellitus MONDO:0005015

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 30 Apr 2024, 1:26 a.m.
Last Modified: 30 Apr 2024, 1:26 a.m.
Panel version: 0.52

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hemochromatosis, type 4, MIM# 606069
OMIM
604653
Clinvar variants
Variants in SLC40A1
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

4 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc40a1 has been classified as Green List (High Evidence).

4 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC40A1 were changed from Hemochromatosis, type 4 606069 to Hemochromatosis, type 4, MIM# 606069

4 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC40A1 were set to

4 May 2024, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: SLC40A1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

17 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC40A1 was added gene: SLC40A1 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: SLC40A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC40A1 were set to Hemochromatosis, type 4 606069