Neuroendocrine 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: Eamon Maher suggested the addition of this gene to the neuroendocrine pertinent germline gene panel, and was agreed with Clare Turnbull.Created: 26 Jul 2017, 12:51 p.m.
Clare Turnbull (Queen Mary University London)
Phenotypes
Neuroendocrine cancer
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Neuroendocrine cancer
- OMIM
- 136850
- Clinvar variants
- Variants in FH
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Inherited phaeochromocytoma and paraganglioma
- Endometrial cancer pertinent cancer susceptibility
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- DDG2P
- Sarcoma cancer susceptibility
- Inherited renal cancer
- Intellectual disability
- Fetal hydrops
- Fumarate hydratase-related tumour syndromes
- Adult solid tumours for rare disease
- Likely inborn error of metabolism
- Renal cancer pertinent cancer susceptibility
- Sarcoma susceptibility
- Possible mitochondrial disorder - nuclear genes
- Adult solid tumours cancer susceptibility
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Fetal anomalies
- Neuroendocrine cancer pertinent cancer susceptibility
- Undiagnosed metabolic disorders
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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for FH was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 Neuroendocrine cancerpanel. Sources: Expert list
19 Jul 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)FH was created by ellenmcdonagh