Mitochondrial disorders
Gene: FH
FH (fumarate hydratase)
EnsemblGeneIds (GRCh38): ENSG00000091483
EnsemblGeneIds (GRCh37): ENSG00000091483
OMIM: 136850, Gene2Phenotype
FH is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000091483
EnsemblGeneIds (GRCh37): ENSG00000091483
OMIM: 136850, Gene2Phenotype
FH is in 21 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 2 Mar 2016, 11:55 a.m.
Comment on list classification: Promoted from red to green due to expert review, and it is a confirmed DD gene for fumarase deficiency.Created: 2 Mar 2016, 11:55 a.m.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Fumarase deficiency, OMIM:606812
- OMIM
- 136850
- Clinvar variants
- Variants in FH
- Penetrance
- Complete
- Panels with this gene
-
- Inherited phaeochromocytoma and paraganglioma
- Undiagnosed metabolic disorders
- Endometrial cancer pertinent cancer susceptibility
- Childhood onset dystonia, chorea or related movement disorder
- Sarcoma cancer susceptibility
- Inherited renal cancer
- Intellectual disability
- Fetal hydrops
- Fetal anomalies
- DDG2P
- Fumarate hydratase-related tumour syndromes
- Likely inborn error of metabolism
- Adult solid tumours for rare disease
- Renal cancer pertinent cancer susceptibility
- Mitochondrial disorders
- Sarcoma susceptibility
- Adult solid tumours cancer susceptibility
- Early onset or syndromic epilepsy
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Possible mitochondrial disorder - nuclear genes
- Neuroendocrine cancer pertinent cancer susceptibility
History Filter Activity
20 Apr 2022, Gel status: 3
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: FH were changed from Fumarase deficiency, 606812 to Fumarase deficiency, OMIM:606812
28 Aug 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to FH. Panel: Mitochondrial disorders
2 Mar 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
2 Mar 2016, Gel status: 4
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for FH were set to Fumarase deficiency, 606812
2 Mar 2016, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for FH was changed to BIALLELIC, autosomal or pseudoautosomal
2 Mar 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
30 Jun 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)FH was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen