Comment on list classification: Promoted from red to green. As advised by the GMS Gastrohepatology Specialist group via email 15-01-2019. FAH is also a green gene on the Neonatal Cholestasis panel (Version 1.3).
Created: 29 Jan 2019, 1:29 p.m.
Comment on publications: Added publications to support upgrading of the gene to Green
Created: 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 association
Created: 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: 15759101
Created: 25 Jul 2018, 2:01 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: fah has been classified as Green List (High Evidence).
gene: FAH was added gene: FAH was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAH were set to 26589959; 23311542; 11112833; 28755194; 28493866; 15759101 Phenotypes for gene: FAH were set to Neonatal and Adult Cholestasis; Tyrosinaemia, Type 1, 276700; Cholestasis