Paraganglioma_phaeochromocytoma

Gene: FH

Green List (high evidence)

FH (fumarate hydratase)
EnsemblGeneIds (GRCh38): ENSG00000091483
EnsemblGeneIds (GRCh37): ENSG00000091483
OMIM: 136850, Gene2Phenotype
FH is in 18 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ClinGen definitive. Paragangliomas and phaeochromocytomas reported in condition.
Sources: Expert list, Expert Review
Created: 18 Sep 2024, 9:08 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Hereditary leiomyomatosis and renal cell cancer, MONDO:0007888; Leiomyomatosis and renal cell cancer, MIM#150800

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Paraganglioma, MONDO:0000448
  • Pheochromocytoma, MONDO:0008233
  • Hereditary leiomyomatosis and renal cell cancer, MONDO:0007888
  • Leiomyomatosis and renal cell cancer, MIM#150800
OMIM
136850
Clinvar variants
Variants in FH
Penetrance
None
Panels with this gene

History Filter Activity

9 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fh has been classified as Green List (High Evidence).

18 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: fh has been classified as Green List (High Evidence).

18 Sep 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

gene: FH was added gene: FH was added to Paraganglioma_phaeochromocytoma. Sources: Expert list,Expert Review Mode of inheritance for gene: FH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FH were set to Paraganglioma, MONDO:0000448; Pheochromocytoma, MONDO:0008233; Hereditary leiomyomatosis and renal cell cancer, MONDO:0007888; Leiomyomatosis and renal cell cancer, MIM#150800 Review for gene: FH was set to GREEN