Inherited renal cancer

Gene: FH

Green List (high evidence)

FH (fumarate hydratase)
EnsemblGeneIds (GRCh38): ENSG00000091483
EnsemblGeneIds (GRCh37): ENSG00000091483
OMIM: 136850, Gene2Phenotype
FH is in 20 panels

5 reviews

Ivone Leong (Genomics England Curator)

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

Lara Hawkes (Genomics England)

Green List (high evidence)

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

Mean age of diagnosis of renal cell carcinoma is 46 years.
Recessive pathogenic variants in fumarase deficiency.
Sources: UKGTN
Created: 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

Ellen McDonagh (Genomics England Curator)

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.

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Endometrial Carcinoma; Renal

History Filter Activity

30 Jan 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: FH were set to PMID: 27899189

30 Jan 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).

30 Jan 2019, Gel status: 1

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert List was added to FH. Rating Changed from No List (delete) to Red List (low evidence)

28 Dec 2018, Gel status: 0

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

Rachel Robinson (Leeds Genetics Laboratory)

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