Neonatal cholestasis

Gene: FAH

Green List (high evidence)

FAH (fumarylacetoacetate hydrolase)
EnsemblGeneIds (GRCh38): ENSG00000103876
EnsemblGeneIds (GRCh37): ENSG00000103876
OMIM: 613871, Gene2Phenotype
FAH is in 11 panels

2 reviews

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.

Jane Hartley (Birmingham Women and Children's Hospital)

Green List (high evidence)

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

History Filter Activity

3 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

25 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

25 Jul 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: FAH were set to 28493866; 23311542; 28755194; 26589959; 11112833; 15759101

25 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

25 Jul 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: FAH were set to 28493866; 23311542; 28755194; 26589959; 11112833; 15759101

25 Jul 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: FAH was changed from to BIALLELIC, autosomal or pseudoautosomal

25 Jul 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: FAH were set to 28493866; 23311542; 28755194; 26589959; 11112833

25 Jul 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: FAH were set to 23311542

25 Jul 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: FAH were set to Neonatal and Adult Cholestasis; Tyrosinaemia, Type 1, 276700; Cholestasis

21 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to FAH. Panel: Cholestasis

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FAH was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

FAH was created by Ellen McDonagh