Renal tubulopathiesGene: FAH
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
Tyrosinemia, type I 276700
FAH was created by sleigh
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