Renal tubulopathies

Gene: FAH

Green List (high evidence)

FAH (fumarylacetoacetate hydrolase)
EnsemblGeneIds (GRCh38): ENSG00000103876
EnsemblGeneIds (GRCh37): ENSG00000103876
OMIM: 613871, Gene2Phenotype
FAH is in 14 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Considered to be appropriate for this panel by Dr Arianna Tucci (Neurology, UCL) due to renal involvement. Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 10 variants reported
Created: 6 Feb 2017, 12:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Tyrosinemia, type I 276700

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
Phenotypes
  • Tyrosinemia, type I 276700
OMIM
613871
Clinvar variants
Variants in FAH
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Feb 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

FAH was created by sleigh

6 Feb 2017, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

FAH was added to Renal tubular acidosispanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Expert Review,Radboud University Medical Center, Nijmegen,UKGTN,Literature