Cholestasis
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. Progressive liver disease, including cholestasis, is a key feature.Created: 8 Dec 2024, 5:55 a.m. | Last Modified: 8 Dec 2024, 5:55 a.m.
Panel Version: 0.263
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tyrosinemia, type I, MIM# 276700
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Tyrosinaemia, type I, MIM# 276700
- Tags
- OMIM
- 613871
- Clinvar variants
- Variants in FAH
- Penetrance
- None
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fah has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: FAH were changed from Tyrosinemia, type I, MIM# 276700 to Tyrosinaemia, type I, MIM# 276700
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: FAH were changed from to Tyrosinemia, type I, MIM# 276700
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: FAH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: FAH.
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FAH was added gene: FAH was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FAH was set to Unknown