Endometrial cancer pertinent cancer susceptibility
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 list classification: Details checked against the Gene List for Reporting Germline Findings in Cancer Patients Version 1.5 document, for Endometrial Carcinoma.Created: 26 Jul 2017, 11:01 a.m.
Clare Turnbull (Queen Mary University London)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Endometrial Carcinoma; Renal
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Endometrial carcinoma
- OMIM
- 136850
- Clinvar variants
- Variants in FH
- Penetrance
- Complete
- Panels with this gene
-
- Inherited phaeochromocytoma and paraganglioma
- Undiagnosed metabolic disorders
- Mitochondrial disorders
- Endometrial cancer pertinent cancer susceptibility
- Sarcoma cancer susceptibility
- Intellectual disability
- Inherited renal cancer
- Likely inborn error of metabolism
- Fetal hydrops
- Fumarate hydratase-related tumour syndromes
- Adult solid tumours for rare disease
- Renal cancer pertinent cancer susceptibility
- Fetal anomalies
- Early onset or syndromic epilepsy
- Sarcoma susceptibility
- Adult solid tumours cancer susceptibility
- Childhood onset dystonia, chorea or related movement disorder
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- DDG2P
- Possible mitochondrial disorder - nuclear genes
- Neuroendocrine cancer pertinent cancer susceptibility
History Filter Activity
7 Sep 2018, Gel status: 3
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Ellen McDonagh: Comment on list classification
26 Jul 2017, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
19 Jul 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)FH was added to Endometrial cancerpanel. Sources: Expert list
19 Jul 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)FH was created by ellenmcdonagh