Unexplained young onset end-stage renal disease
Gene: CTNS
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of GreenCreated: 9 Apr 2019, 11:17 a.m.
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
gene: CTNS was added gene: CTNS was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTNS were set to 27604308; 19863563; 9537412 Phenotypes for gene: CTNS were set to Cystinosis, atypical nephropathic 219800; Cystinosis, nephropathic 219800; Cystinosis, late-onset juvenile or adolescent nephropathic 219900