Inherited phaeochromocytoma and paraganglioma
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
3 reviews
Louise IZATT (GSTT Clinical Genetics Service)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Treena Cranston (Oxford)
Ellen Thomas (Genomics England Curator)
Comment on list classification: At least 5 families in the literature with FH causing hereditary PCC/PGL. Other FH mutations cause hereditary Leiomyomatosis and renal cell cancer with the genotype-phenotype correlation currently poorly understood.Created: 6 Feb 2016, 5:59 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- PCC/PGL
- HLRCC
- OMIM
- 136850
- Clinvar variants
- Variants in FH
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Inherited phaeochromocytoma and paraganglioma
- Endometrial cancer pertinent cancer susceptibility
- Mitochondrial disorders
- 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
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Early onset or syndromic epilepsy
- Fetal anomalies
- Neuroendocrine cancer pertinent cancer susceptibility
- Undiagnosed metabolic disorders
History Filter Activity
6 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
6 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
13 Oct 2015, Gel status: 0
Set Mode of Inheritance
Treena Cranston (Oxford)Model of inheritance for gene FH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
13 Oct 2015, Gel status: 0
Added New Source
Treena Cranston (Oxford)FH was added to Neuro-endocrine Tumours- PCC and PGLpanel. Source: Expert Review
13 Oct 2015, Gel status: 0
Added New Source
Treena Cranston (Oxford)FH was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Expert Review