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  2. Unexplained kidney failure in young people
  3. CTNS
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Unexplained kidney failure in young people

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

1 review

Sarah Leigh (Genomics England Curator)

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, 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

Created: 6 Feb 2017, 1:01 p.m.

Panel version: 1.0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
Phenotypes
  • Cystinosis, atypical nephropathic 219800
  • Cystinosis, late-onset juvenile or adolescent nephropathic 219900
  • Cystinosis, nephropathic 219800
OMIM
606272
Clinvar variants
Variants in CTNS
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

6 Feb 2017, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

CTNS was added to Unexplained kidney failure in young peoplepanel. Sources: Emory Genetics Laboratory,Expert Review,Illumina TruGenome Clinical Sequencing Services,Literature,Radboud University Medical Center, Nijmegen,UKGTN

6 Feb 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

CTNS was created by sleigh