Renal tubulopathies
Gene: CTNS
This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group; Gene Symbol submitted: CTNS; Suggested initial gene rating: green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none providedCreated: 3 Feb 2019, 11:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cystinosis, nephropathic MIM 219800. Cystinosis, ocular nonnephropathic MIM 219750
Variants in this GENE are reported as part of current diagnostic practice
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, 12:55 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
Publications for gene: CTNS were set to 27604308; 9537412; 19863563
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; Cystinosis, ocular nonnephropathic 219750
Source NHS GMS was added to CTNS. Rating Changed from Green List (high evidence) to Green List (high evidence)
CTNS was created by sleigh
CTNS was added to Renal tubular acidosispanel. Sources: Emory Genetics Laboratory,Expert Review,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Literature