Renal tubulopathies

Gene: CTNS

Green List (high evidence)

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 provided

Created: 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

Green List (high evidence)

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

• 27604308
• 9537412
• 19863563