Sarcoma susceptibility
Gene: FHEnsemblGeneIds (GRCh38): ENSG00000091483
EnsemblGeneIds (GRCh37): ENSG00000091483
OMIM: 136850, Gene2Phenotype
FH is in 21 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from Red to Amber, awaiting clinical expert review. This is a Green gene on the Adult solid tumours cancer susceptibility panel version 1.2 for Werner syndrome. It is a confirmed cancer gene in Gene2Phenotype for LEIOMYOMATOSIS AND RENAL CELL CANCER (monoallelic mode of inheritance).Created: 18 Apr 2019, 3:10 p.m.
This gene was requested to be added to this panel by Shazia Mahamdallie (GOSH).
Sources: Expert ReviewCreated: 18 Apr 2019, 2:47 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Leiomyomatosis and renal cell cancer 150800
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Amber
- Expert Review Amber
- Expert Review
- Phenotypes
-
- Leiomyomatosis and renal cell cancer, OMIM:150800
- Hereditary leiomyomatosis and renal cell cancer, MONDO:0007888
- Leiomyosarcoma, MONDO:0005058
- OMIM
- 136850
- Clinvar variants
- Variants in FH
- Penetrance
- None
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: FH were changed from Leiomyomatosis and renal cell cancer 150800 to Leiomyomatosis and renal cell cancer, OMIM:150800; Hereditary leiomyomatosis and renal cell cancer, MONDO:0007888; Leiomyosarcoma, MONDO:0005058
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to FH.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: FH was added gene: FH was added to Sarcoma susceptibility. Sources: Expert Review Amber Mode of inheritance for gene: FH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FH were set to Leiomyomatosis and renal cell cancer 150800