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Fetal anomalies

Gene: FH

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

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Discussions and outcome of review: FH is biallelic for 'Fumarase deficiency', and monoallelic for 'Leiomyomatosis and renal cell cancer'. Fumarase deficiency can sometimes have prenatal onset: polyhydramnios & brain malformations. Include for biallelic inheritance only to avoid risk of incidental cancer finding. Therefore FH was upgraded from Red to Green.
Created: 25 Jul 2019, 8:04 a.m. | Last Modified: 25 Jul 2019, 8:04 a.m.
Panel Version: 0.311
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FH gene rating from Green to Red.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for FUMARASE DEFICIENCY
Created: 11 Dec 2018, 9:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.311

History Filter Activity

20 Apr 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: FH were changed from FUMARASE DEFICIENCY to Fumarase deficiency, OMIM:606812

25 Jul 2019, Gel status: 3

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Green was added to FH. Rating Changed from Red List (low evidence) to Green List (high evidence)

24 Mar 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to FH. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: FH was added gene: FH was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FH were set to FUMARASE DEFICIENCY