Hypogonadotropic hypogonadism (GMS)
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
2 reviews
Simon Thomas (Wessex Regional Genetics Laboratory)
Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Wessex and West Midlands GLH
- Expert Review Red
- NHS GMS
- South West GLH
- Phenotypes
-
- Haemochromatosis type 4 (OMIM 606069)
- OMIM
- 604653
- Clinvar variants
- Variants in SLC40A1
- Penetrance
- None
- Panels with this gene
-
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Hypogonadotropic hypogonadism (GMS)
- Hypogonadotropic hypogonadism
- Monogenic diabetes
- Iron metabolism disorders - NOT common HFE mutations
- Dilated Cardiomyopathy and conduction defects
- Neonatal cholestasis
- Undiagnosed metabolic disorders
History Filter Activity
22 Mar 2019, Gel status: 1
Added New Source
Ivone Leong (Genomics England Curator)Source Wessex and West Midlands GLH was added to SLC40A1.
15 Mar 2019, Gel status: 1
Set Phenotypes
Ivone Leong (Genomics England Curator)Added phenotypes Haemochromatosis type 4 (OMIM 606069) for gene: SLC40A1
15 Mar 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: SLC40A1 was added gene: SLC40A1 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red Mode of inheritance for gene: SLC40A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted