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Inherited renal cancer

Gene: FH

Green List (high evidence)
FH (fumarate hydratase)
EnsemblGeneIds (GRCh38): ENSG00000091483
EnsemblGeneIds (GRCh37): ENSG00000091483
OMIM: 136850, Gene2Phenotype
FH is in 21 panels

6 reviews

Arina Puzriakova (Genomics England Curator)

Comment 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
Created: 8 Mar 2021, 12:52 p.m.
Last Modified: 8 Mar 2021, 12:52 p.m.
Panel version: 1.7

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
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)

Created: 30 Jan 2019, 10:11 a.m.

Panel version: 0.3

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

Created: 28 Dec 2018, 9:19 a.m.

Panel version: 0.1

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.
Created: 26 Jul 2017, 12:13 p.m.

Panel version: Imported from Renal cancer pertinent cancer susceptibility panel version 0.6

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Endometrial Carcinoma; Renal

Created: 20 Jul 2017, 1:36 p.m.

Panel version: Imported from Renal cancer pertinent cancer susceptibility panel version Imported from "Solid tumours" panel version 0.4

History Filter Activity

8 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

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