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Fumarate hydratase-related tumour syndromes
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
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #150800) and the OMIM record was last accessed on 18 December 2025.Created: 18 Dec 2025, 10:49 a.m. | Last Modified: 18 Dec 2025, 10:49 a.m.
Panel Version: 1.2
FH has been added to the panel for R365 Fumarate hydratase-related tumour syndromes with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 1:15 p.m. | Last Modified: 30 Jun 2023, 1:15 p.m.
Panel Version: 0.1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Leiomyomatosis and renal cell cancer, OMIM:150800
- hereditary leiomyomatosis and renal cell cancer, MONDO:0007888
- OMIM
- 136850
- Clinvar variants
- Variants in FH
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Inherited phaeochromocytoma and paraganglioma
- Undiagnosed metabolic disorders
- Endometrial cancer pertinent cancer susceptibility
- Mitochondrial disorders
- Fetal anomalies
- DDG2P
- Sarcoma cancer susceptibility
- Inherited renal cancer
- 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
- Early onset or syndromic epilepsy
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Intellectual disability
- Neuroendocrine cancer pertinent cancer susceptibility
History Filter Activity
18 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: FH were changed from to Leiomyomatosis and renal cell cancer, OMIM:150800; hereditary leiomyomatosis and renal cell cancer, MONDO:0007888
29 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: FH was added gene: FH was added to Fumarate hydratase-related tumour syndromes. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: FH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown