Renal tubulopathies
Gene: FAH
FAH (fumarylacetoacetate hydrolase)
EnsemblGeneIds (GRCh38): ENSG00000103876
EnsemblGeneIds (GRCh37): ENSG00000103876
OMIM: 613871, Gene2Phenotype
FAH is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000103876
EnsemblGeneIds (GRCh37): ENSG00000103876
OMIM: 613871, Gene2Phenotype
FAH is in 13 panels
1 review
Sarah Leigh (Genomics England Curator)
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 reportedCreated: 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
-
- Renal tubulopathies
- Paediatric or syndromic cardiomyopathy
- Neonatal cholestasis
- Fetal anomalies
- Undiagnosed metabolic disorders
- Hypophosphataemia or rickets
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cholestasis
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- DDG2P
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