Unexplained kidney failure in young people
Gene: CTNS
Considered to be appropriate for this panel by Dr Arianna Tucci (Neurology, UCL) due to renal involvement. Associated with phenotypes in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 8 for Cystinosis, nephropathic or atypical nephropathic (OMIM 219800) and 5 for combinations of these phenotypes were reported .Created: 6 Feb 2017, 1:01 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cystinosis, atypical nephropathic 219800; Cystinosis, late-onset juvenile or adolescent nephropathic 219900; Cystinosis, nephropathic 219800
Publications
Phenotypes for gene: CTNS were changed from Cystinosis, atypical nephropathic 219800; Cystinosis, late-onset juvenile or adolescent nephropathic 219900; Cystinosis, nephropathic 219800 to Cystinosis, atypical nephropathic 219800; Cystinosis, late-onset juvenile or adolescent nephropathic 219900; Cystinosis, nephropathic 219800
CTNS was added to Unexplained kidney failure in young peoplepanel. Sources: Emory Genetics Laboratory,Expert Review,Illumina TruGenome Clinical Sequencing Services,Literature,Radboud University Medical Center, Nijmegen,UKGTN
CTNS was created by sleigh