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  2. Renal Tubulopathies and related disorders
  3. CTNS
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Renal Tubulopathies and related disorders

Gene: CTNS

Green List (high evidence)
CTNS (cystinosin, lysosomal cystine transporter)
EnsemblGeneIds (GRCh38): ENSG00000040531
EnsemblGeneIds (GRCh37): ENSG00000040531
OMIM: 606272, Gene2Phenotype
CTNS is in 10 panels

3 reviews

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Hypophosphatemic rickets is a prominent feature of cystinosis when untreated.
Sources: Expert list
Created: 28 Nov 2022, 9:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cystinosis, nephropathic MIM#219800

Publications

Created: 28 Nov 2022, 9:14 p.m.

Panel version: Imported from Calcium and Phosphate disorders panel version 0.60

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Established association.

Genereviews PMID:20301574
Created: 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

Created: 4 May 2022, 11:29 a.m.
Last Modified: 4 May 2022, 11:29 a.m.
Panel version: Imported from Metabolic renal disease panel version Imported from Mendeliome panel version 0.13747

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Hypophosphatemic rickets is a prominent feature of cystinosis when untreated.
Sources: Expert list
Created: 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

Created: 8 Oct 2021, 4:35 a.m.

Panel version: Imported from Calcium and Phosphate disorders panel version Imported from Hypophosphataemic Rickets panel version 0.27

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
Phenotypes
  • Cystinosis, nephropathic MIM#219800
OMIM
606272
Clinvar variants
Variants in CTNS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CTNS was added gene: CTNS was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTNS were set to 20301574, 9537412, 31068690 Phenotypes for gene: CTNS were set to Cystinosis, nephropathic MIM#219800