Sarcoma susceptibility
Gene: FHComment 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
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
Source NHS GMS was added to FH.
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