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Intellectual disability syndromic and non-syndromic

Gene: FH

Green List (high evidence)

FH (fumarate hydratase)
EnsemblGeneIds (GRCh38): ENSG00000091483
EnsemblGeneIds (GRCh37): ENSG00000091483
OMIM: 136850, Gene2Phenotype
FH is in 18 panels

1 review

Claire Fryer-Smith (University of Melbourne)

Green List (high evidence)

Fumarase deficiency is caused by biallelic loss of function of FH (31746132, 29052812, 21560188). DD has been seen in 86% of cases and mild-moderate ID has been seen in 8% of cases (GeneReviews).
Created: 5 Oct 2023, 2:38 a.m. | Last Modified: 5 Oct 2023, 2:38 a.m.
Panel Version: 0.5541

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fumarase deficiency (MIM# 606812)

Publications

History Filter Activity

5 Oct 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fh has been classified as Green List (High Evidence).

5 Oct 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FH were changed from to Fumarase deficiency (MIM# 606812)

5 Oct 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FH were set to

5 Oct 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: FH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FH was added gene: FH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FH was set to Unknown