Diabetes with additional phenotypes suggestive of a monogenic aetiology
Gene: SLC40A1
SLC40A1 (solute carrier family 40 member 1)
EnsemblGeneIds (GRCh38): ENSG00000138449
EnsemblGeneIds (GRCh37): ENSG00000138449
OMIM: 604653, Gene2Phenotype
SLC40A1 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000138449
EnsemblGeneIds (GRCh37): ENSG00000138449
OMIM: 604653, Gene2Phenotype
SLC40A1 is in 10 panels
1 review
Sarah Leigh (Genomics England Curator)
Inclusion of this as a green gene on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel and the views of clinical expert, Dr Arianna Tucci, UCL.Created: 21 Mar 2017, 2:13 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hemochromatosis, type 4 606069
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Hemochromatosis, type 4 606069
- OMIM
- 604653
- Clinvar variants
- Variants in SLC40A1
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Hypogonadotropic hypogonadism
- Hypogonadotropic hypogonadism (GMS)
- Iron metabolism disorders - NOT common HFE mutations
- Dilated Cardiomyopathy and conduction defects
- Neonatal cholestasis
History Filter Activity
21 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
21 Mar 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)SLC40A1 was created by sleigh
21 Mar 2017, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)SLC40A1 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Expert Review