Neonatal cholestasis
Gene: FAHComment 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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
tyrosinaemia; cholestasis
This panel has been subjected to extensive internal and external review.
Gene: fah has been classified as Green List (High Evidence).
Publications for gene: FAH were set to 28493866; 23311542; 28755194; 26589959; 11112833; 15759101
Gene: fah has been classified as Green List (High Evidence).
Publications for gene: FAH were set to 28493866; 23311542; 28755194; 26589959; 11112833; 15759101
Mode of inheritance for gene: FAH was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAH were set to 28493866; 23311542; 28755194; 26589959; 11112833
Publications for gene: FAH were set to 23311542
Phenotypes for gene: FAH were set to Neonatal and Adult Cholestasis; Tyrosinaemia, Type 1, 276700; Cholestasis
Victorian Clinical Genetics Services was added to FAH. Panel: Cholestasis
FAH was added to Cholestasis panel. Sources: Emory Genetics Laboratory
FAH was created by Ellen McDonagh