Calcium and Phosphate disorders
Gene: CTNS
Hypophosphatemic rickets is a prominent feature of cystinosis when untreated.
Sources: Expert listCreated: 28 Nov 2022, 9:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cystinosis, nephropathic MIM#219800
Publications
Established association.
Genereviews PMID:20301574Created: 4 May 2022, 11:29 a.m. | Last Modified: 4 May 2022, 11:29 a.m.
Panel Version: 0.13747
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cystinosis, atypical nephropathic MIM#219800; Cystinosis, late-onset juvenile or adolescent nephropathic MIM#219900; Cystinosis, nephropathic MIM#219800; Cystinosis, ocular nonnephropathic MIM#219750
Publications
Variants in this GENE are reported as part of current diagnostic practice
Hypophosphatemic rickets is a prominent feature of cystinosis when untreated.
Sources: Expert listCreated: 8 Oct 2021, 4:35 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cystinosis, nephropathic MIM#219800
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: ctns has been classified as Green List (High Evidence).
gene: CTNS was added gene: CTNS was added to Renal abnormalities of calcium and phosphate metabolism. Sources: Expert list Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTNS were set to PMID: 20301574, 9537412, 31068690 Phenotypes for gene: CTNS were set to Cystinosis, nephropathic MIM#219800 Review for gene: CTNS was set to GREEN