Dilated Cardiomyopathy and conduction defects
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
3 reviews
Rebecca Whittington (South West GLH)
Hemochromatosis, type 4 OMIM#606069Created: 25 Mar 2019, 4:30 p.m.
Associated with AD Haemochromatosis which can be more paediatric to adult onset as shown in OMIM (see this variant SLC40A1, 3-BP DEL, VAL162DEL). Griffiths 2010 (Hepatology. 2010 Mar;51(3):788-95. doi: 10.1002/hep.23377). No Gene reviews and on OMIM does not go into details about how common the cardiac features are.Created: 25 Mar 2019, 4:27 p.m.
Is haemochromatosis relevant on this panel?Created: 25 Mar 2019, 4:24 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Not fully reviewed however doesn't appear to be associated with primary non-syndromic teen/adult onset DCM.Created: 17 Jan 2019, 5:41 p.m.
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, 2:08 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
-
- South West GLH
- Wessex and West Midlands GLH
- Expert Review
- Expert Review Green
- 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 Feb 2019, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to SLC40A1.
17 Jan 2019, Gel status: 3
Added New Source, Status Update
Ellen McDonagh (Genomics England Curator)Source Wessex and West Midlands GLH was added to SLC40A1. Rating Changed from Green List (high evidence) to Green List (high evidence)
17 Aug 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)SLC40A1 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert Review,Expert Review Green
17 Aug 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SLC40A1 was created by ellenmcdonagh