Aminoacidopathy
Gene: FAH
FAH (fumarylacetoacetate hydrolase)
EnsemblGeneIds (GRCh38): ENSG00000103876
EnsemblGeneIds (GRCh37): ENSG00000103876
OMIM: 613871, Gene2Phenotype
FAH is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000103876
EnsemblGeneIds (GRCh37): ENSG00000103876
OMIM: 613871, Gene2Phenotype
FAH is in 14 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Classified Definitive by ClinGen Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:004804
Typically present in young infants with abnormal liver function as FAH is mainly expressed in the liver.
Well established gene-disease association with multiple reported individuals having abnormal biochemical function of FAH.
LoF is the mechanism of disease. Gene Reviews reports many founder variants in different population.
Sources: ClinGenCreated: 24 May 2024, 12:54 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
tyrosinemia type I MONDO:0010161
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- tyrosinemia type I MONDO:0010161
- 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
24 May 2024, 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).
24 May 2024, 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).
24 May 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: FAH was added gene: FAH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAH were set to 20301688; 8318997; 7550234; 7942842; 2378356; 9095403; 26829318 Phenotypes for gene: FAH were set to tyrosinemia type I MONDO:0010161 Review for gene: FAH was set to GREEN