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BabyScreen+ newborn screening

Gene: FAH

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.

Variable age of onset from infancy to adolescence.
Created: 12 Oct 2022, 1:59 a.m. | Last Modified: 12 Oct 2022, 1:59 a.m.
Panel Version: 0.541

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Tyrosinaemia, type I, MIM# 276700

John Christodoulou (Murdoch Children's Research Institute)

Green List (high evidence)

treatment with nitisinone and a low-tyrosine diet prevents progressive liver failure, and obviates the need for liver transplant down the track(PMID: 28771246; https://www.ncbi.nlm.nih.gov/books/NBK1515/).

Raised tyrosine is often (but not always) seen as part of newborn screening
Created: 10 Oct 2022, 11:35 a.m. | Last Modified: 10 Oct 2022, 11:35 a.m.
Panel Version: 0.541

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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: FAH.

12 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fah 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: FAH.

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: FAH was added gene: FAH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAH were set to Tyrosinaemia, type I, MIM#276700