Hypogonadotropic hypogonadism (GMS)
Gene: TFR2
TFR2 (transferrin receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000106327
EnsemblGeneIds (GRCh37): ENSG00000106327
OMIM: 604720, Gene2Phenotype
TFR2 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000106327
EnsemblGeneIds (GRCh37): ENSG00000106327
OMIM: 604720, Gene2Phenotype
TFR2 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
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Wessex and West Midlands GLH
- Expert Review Red
- NHS GMS
- South West GLH
- Phenotypes
-
- Haemochromatosis type 3 (OMIM 604250)
- OMIM
- 604720
- Clinvar variants
- Variants in TFR2
- 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 TFR2.
15 Mar 2019, Gel status: 1
Set Phenotypes
Ivone Leong (Genomics England Curator)Added phenotypes Haemochromatosis type 3 (OMIM 604250) for gene: TFR2
15 Mar 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: TFR2 was added gene: TFR2 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red Mode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal