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Inborn errors of metabolism

Gene: FH

Green List (high evidence)

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

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on G2P and OMIM.
Created: 2 Mar 2016, 11:55 a.m.
Comment on list classification: Promoted from red to green due to expert review, and it is a confirmed DD gene for fumarase deficiency.
Created: 2 Mar 2016, 11:55 a.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to FH. Source London North GLH was added to FH.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Fumarase deficiency, 606812; Fumarase deficiency (Disorders of the citric acid cycle) for gene: FH Publications for gene FH were changed from to 27604308

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: FH was added gene: FH was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FH were set to Fumarase deficiency, 606812