Inherited phaeochromocytoma and paraganglioma excluding NF1

Gene: FH

Green List (high evidence)

FH (fumarate hydratase)
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)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Treena Cranston (Oxford)

Green List (high evidence)

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.

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