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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 18 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Listed as a cause of non-immune hydrops in a review, but cannot find reported cases.

Polymicrogyria and CC abnormalities reported.

Sources: Expert list
Created: 13 Aug 2020, 6:19 a.m. | Last Modified: 21 Dec 2021, 7:14 a.m.
Panel Version: 0.1596

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fumarase deficiency, MIM# 606812

Publications

History Filter Activity

21 Dec 2021, 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).

21 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

21 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FH were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FH was added gene: FH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FH were set to FUMARASE DEFICIENCY