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Prepair 1000+

Gene: FAH

Green List (high evidence)

FAH (fumarylacetoacetate hydrolase)
EnsemblGeneIds (GRCh38): ENSG00000103876
EnsemblGeneIds (GRCh37): ENSG00000103876
OMIM: 613871, Gene2Phenotype
FAH is in 14 panels

1 review

Melanie Marty (Victorian Clinical Genetics Services)

Green List (high evidence)

Well-established metabolic condition. Usually detected by newborn screening. In untreated individuals severe liver disease occurs in infancy. Other signs in untreated children include renal disease, rickets, hepatocellular carcinoma, and/or neurologic crises (including peripheral neuropathy). Death in untreated children usually occurs before 10 years.
Created: 6 Mar 2025, 10:56 p.m. | Last Modified: 6 Mar 2025, 10:56 p.m.
Panel Version: 1.1568

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Tyrosinaemia, type I, MIM# 276700

Publications

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Tyrosinemia, type I, 276700 (3) for gene: FAH

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FAH was added gene: FAH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAH were set to Tyrosinemia, type I, 276700 (3)