Inherited phaeochromocytoma and paraganglioma excluding NF1
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
4 reviews
Ivone Leong (Genomics England Curator)
Comment when marking as ready: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 11 Mar 2019, 1:22 p.m.
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
- NHS GMS
- Phenotypes
-
- PCC/PGL
- HLRCC
- OMIM
- 136850
- Clinvar variants
- Variants in FH
- Penetrance
- None
- Publications
- Panels with this gene
-
- Fetal anomalies
- Inherited phaeochromocytoma and paraganglioma
- Undiagnosed metabolic disorders
- Endometrial cancer pertinent cancer susceptibility
- Early onset or syndromic epilepsy
- Sarcoma cancer susceptibility
- 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
- Mitochondrial disorders
- Sarcoma susceptibility
- Intellectual disability
- 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
11 Mar 2019, Gel status: 3
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: fh has been classified as Green List (High Evidence).
11 Mar 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: FH was added gene: FH was added to Inherited phaeochromocytoma and paraganglioma excluding NF1. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FH were set to 23707781; 24334767 Phenotypes for gene: FH were set to PCC/PGL; HLRCC