Neonatal cholestasis
Gene: FAHEnsemblGeneIds (GRCh38): ENSG00000103876
EnsemblGeneIds (GRCh37): ENSG00000103876
OMIM: 613871, Gene2Phenotype
FAH is in 13 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Comment on publications: Added publications to support upgrading of the gene to GreenCreated: 25 Jul 2018, 2:05 p.m.
Comment on list classification: changed Red to Green from external review comment and further publications to support gene-disease associationCreated: 25 Jul 2018, 2:04 p.m.
from PMID:15759101 Hereditary tyrosinemia type I is an autosomal recessive disorder caused by deficiency of fumarylacetoacetase (FAH), the last enzyme of tyrosine degradation. 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.Created: 25 Jul 2018, 2:03 p.m.
Comment on mode of inheritance: Added MOI from external expert review and PMID: 15759101Created: 25 Jul 2018, 2:01 p.m.
Jane Hartley (Birmingham Women and Children's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
tyrosinaemia; cholestasis
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
- Phenotypes
-
- Neonatal and Adult Cholestasis
- Tyrosinaemia, Type 1, 276700
- Cholestasis
- OMIM
- 613871
- Clinvar variants
- Variants in FAH
- Penetrance
- None
- Publications
- Panels with this gene
-
- DDG2P
- Renal tubulopathies
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Neonatal cholestasis
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Hypophosphataemia or rickets
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cholestasis
- Hereditary neuropathy
History Filter Activity
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: fah has been classified as Green List (High Evidence).
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: FAH were set to 28493866; 23311542; 28755194; 26589959; 11112833; 15759101
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: fah has been classified as Green List (High Evidence).
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: FAH were set to 28493866; 23311542; 28755194; 26589959; 11112833; 15759101
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: FAH was changed from to BIALLELIC, autosomal or pseudoautosomal
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: FAH were set to 28493866; 23311542; 28755194; 26589959; 11112833
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: FAH were set to 23311542
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: FAH were set to Neonatal and Adult Cholestasis; Tyrosinaemia, Type 1, 276700; Cholestasis
Added New Source
Ellen McDonagh (Genomics England Curator)Victorian Clinical Genetics Services was added to FAH. Panel: Cholestasis
Added New Source
Ellen McDonagh (Genomics England Curator)FAH was added to Cholestasis panel. Sources: Emory Genetics Laboratory
Created
Ellen McDonagh (Genomics England Curator)FAH was created by Ellen McDonagh