Liver Failure_Paediatric
Gene: FAHEnsemblGeneIds (GRCh38): ENSG00000103876
EnsemblGeneIds (GRCh37): ENSG00000103876
OMIM: 613871, Gene2Phenotype
FAH is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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.
Sources: Expert listCreated: 1 Nov 2020, 12:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tyrosinemia, type I, MIM#276700
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Tyrosinemia, type I, MIM#276700
- Tags
- OMIM
- 613871
- Clinvar variants
- Variants in FAH
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Aminoacidopathy
- Calcium and Phosphate disorders
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Cholestasis
- Cardiomyopathy_Paediatric
- Liver Failure_Paediatric
- Hereditary Neuropathy - complex
- Mendeliome
- BabyScreen+ newborn screening
- Renal Tubulopathies and related disorders
- Prepair 500+
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: FAH.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fah has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fah has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FAH was added gene: FAH was added to Acute Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAH were set to 15759101 Phenotypes for gene: FAH were set to Tyrosinemia, type I, MIM#276700 Review for gene: FAH was set to GREEN