This Panel is marked as Retired
Multiple Tumours
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
1 review
Ellen McDonagh (Genomics England Curator)
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:46 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)
- Renal cell cancer
- Leiomyosarcoma (uterus)
- Leiomyomata (cutaneous, uterus)
- Neuro-endocrine Tumours- PCC and PGL
- OMIM
- 136850
- Clinvar variants
- Variants in FH
- Penetrance
- Complete
- Panels with this gene
-
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Inherited phaeochromocytoma and paraganglioma
- Endometrial cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- Fumarate hydratase-related tumour syndromes
- Sarcoma cancer susceptibility
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Possible mitochondrial disorder - nuclear genes
- Fetal hydrops
- Adult solid tumours for rare disease
- Renal cancer pertinent cancer susceptibility
- Mitochondrial disorders
- Intellectual disability
- Sarcoma susceptibility
- DDG2P
- Likely inborn error of metabolism
- Fetal anomalies
- Early onset or syndromic epilepsy
- Neuroendocrine cancer pertinent cancer susceptibility
- Inherited renal cancer
History Filter Activity
9 Mar 2016, Gel status: 4
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)FH was added to Multiple Tumourspanel. Source: Expert Review Green Model of inheritance for gene FH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)FH was created by ellenmcdonagh
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)FH was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)