1. Panels
  2. Fetal anomalies
  3. FAH
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: FAH

Red List (low 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)

Red List (low evidence)

Presentation is typically post-natal.
Created: 20 Dec 2021, 6:07 a.m. | Last Modified: 20 Dec 2021, 6:07 a.m.
Panel Version: 0.1496

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Tyrosinemia, type I, MIM#276700

Created: 20 Dec 2021, 6:07 a.m.
Last Modified: 20 Dec 2021, 6:07 a.m.
Panel version: 0.1496

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association.

The disorder is characterized by progressive liver disease and a secondary renal tubular dysfunction leading to hypophosphatemic rickets. Onset varies from infancy to adolescence. In the most acute form patients present with severe liver failure within weeks after birth, whereas rickets may be the major symptom in chronic tyrosinemia. Untreated, death ensues from cirrhosis or hepatocellular carcinoma at a young age.
Created: 20 Dec 2021, 2:01 a.m. | Last Modified: 20 Dec 2021, 2:01 a.m.
Panel Version: 0.1469

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Tyrosinemia, type I, MIM#276700

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 20 Dec 2021, 2:01 a.m.
Last Modified: 20 Dec 2021, 2:01 a.m.
Panel version: 0.1469

History Filter Activity

20 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fah has been classified as Red List (Low Evidence).

20 Dec 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FAH were changed from TYROSINEMIA TYPE 1 to Tyrosinemia, type I, MIM#276700

20 Dec 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FAH were set to

20 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fah has been classified as Red List (Low Evidence).

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: FAH was added gene: FAH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAH were set to TYROSINEMIA TYPE 1