Inherited phaeochromocytoma and paraganglioma excluding NF1Gene: FH
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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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.
Gene: fh has been classified as Green List (High Evidence).
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