Inherited renal cancer
Gene: FHComment on phenotypes: Biallelic variants in this gene are associated with Fumarase deficiency (MIM# 606812)Created: 8 Mar 2021, 12:52 p.m. | Last Modified: 8 Mar 2021, 12:52 p.m.
Panel Version: 1.7
As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 31 Jul 2019, 12:50 p.m. | Last Modified: 31 Jul 2019, 12:50 p.m.
Panel Version: 0.38
Mean age of diagnosis of renal cell carcinoma is 46 years.
Recessive pathogenic variants in fumarase deficiency.
Sources: UKGTNCreated: 28 Dec 2018, 9:19 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Uterine leiomyosarcoma (less common); Cutaneous leiomyosarcoma (less common); Renal cell carcinoma, solitary papillary type 2 (about 20% of patients)
Publications
Comment on list classification: Details checked against the Gene List for Reporting Germline Findings in Cancer Patients Version 1.5 document, for renal tumour type.Created: 26 Jul 2017, 12:13 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Endometrial Carcinoma; Renal
Phenotypes for gene: FH were changed from Uterine leiomyosarcoma (less common); Cutaneous leiomyosarcoma (less common); Renal cell carcinoma, solitary papillary type 2 (about 20% of patients) to Leiomyomatosis and renal cell cancer, OMIM:150800; Hereditary leiomyomatosis and renal cell cancer, MONDO:0007888
Publications for gene: FH were set to PMID: 27899189
Gene: fh has been classified as Green List (High Evidence).
Source Expert List was added to FH. Rating Changed from No List (delete) to Red List (low evidence)
gene: FH was added gene: FH was added to Inherited renal cancer. Sources: UKGTN Mode of inheritance for gene: FH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FH were set to PMID: 27899189 Phenotypes for gene: FH were set to Uterine leiomyosarcoma (less common); Cutaneous leiomyosarcoma (less common); Renal cell carcinoma, solitary papillary type 2 (about 20% of patients) Penetrance for gene: FH were set to Incomplete Review for gene: FH was set to GREEN