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Cholestasis

Gene: FAH

Green List (high evidence)
FAH (fumarylacetoacetate hydrolase)
EnsemblGeneIds (GRCh38): ENSG00000103876
EnsemblGeneIds (GRCh37): ENSG00000103876
OMIM: 613871, Gene2Phenotype
FAH is in 13 panels

3 reviews

Ivone Leong (Genomics England Curator)

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.
Created: 29 Jan 2019, 1:29 p.m.

Panel version: 0.19

Louise Daugherty (Genomics England Curator)

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.
Created: 25 Jul 2018, 2:01 p.m.

Panel version: Imported from Neonatal cholestasis panel version 0.134

Jane Hartley (Birmingham Women and Children's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
tyrosinaemia; cholestasis

Created: 16 Jun 2018, 9:56 p.m.

Panel version: Imported from Neonatal cholestasis panel version 0.18

History Filter Activity

29 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: fah has been classified as Green List (High Evidence).

29 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

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