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BabyScreen+ newborn screening

Gene: FH

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mono-allelic disease is adult-onset, therefore exclude heterozygous variants from reporting.
Created: 12 Oct 2022, 2:08 a.m. | Last Modified: 12 Oct 2022, 2:08 a.m.
Panel Version: 0.541

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fumarase deficiency, MIM#606812

John Christodoulou (Murdoch Children's Research Institute)

Green List (high evidence)

AR form - lactic and pyruvic acidaemia, and fumaric aciduria; high fat/low carbohydrate diet seems to be of benefit (PMID: 29052812; PMID: 20301679) - our work...

AD form - associated with hereditary leiomyomatosis and renal cell cancer
Created: 10 Oct 2022, 11:51 a.m. | Last Modified: 10 Oct 2022, 11:51 a.m.
Panel Version: 0.541

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
mitochondrial encephalopathy; failure to thrive; developmental delay; hypotonia; cerebral atrophy

History Filter Activity

27 Dec 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag metabolic tag was added to gene: FH.

12 Oct 2022, 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).

12 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: FH.

18 Sep 2022, 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 gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FH were set to Fumurase deficiency MIM# 606812