Lysosomal storage disorder

Gene: CTNS

Green List (high evidence)

CTNS (cystinosin, lysosomal cystine transporter)
EnsemblGeneIds (GRCh38): ENSG00000040531
EnsemblGeneIds (GRCh37): ENSG00000040531
OMIM: 606272, Gene2Phenotype
CTNS is in 11 panels

2 reviews

Emma Ashton (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Carol Hardy (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cystinosis, atypical nephropathic 219800; Cystinosis, late-onset juvenile or adolescent nephropathic 219900; Cystinosis, nephropathic 219800; Cystinosis, ocular nonnephropathic 219750

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • North London GLH
Phenotypes
  • Cystinosis, atypical nephropathic OMIM:219800
  • Cystinosis, nephropathic OMIM:219800
  • Cystinosis, late-onset juvenile or adolescent nephropathic OMIM:219900
  • Cystinosis, ocular nonnephropathic OMIM:219750
  • nephropathic cystinosis MONDO:0100151
  • juvenile nephropathic cystinosis MONDO:0009066
  • ocular cystinosis MONDO:0009064
OMIM
606272
Clinvar variants
Variants in CTNS
Penetrance
None
Panels with this gene

History Filter Activity

16 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CTNS were changed from Cystinosis, atypical nephropathic 219800; Cystinosis, nephropathic 219800; Cystinosis, late-onset juvenile or adolescent nephropathic 219900; Cystinosis, ocular nonnephropathic 219750 to Cystinosis, atypical nephropathic OMIM:219800; Cystinosis, nephropathic OMIM:219800; Cystinosis, late-onset juvenile or adolescent nephropathic OMIM:219900; Cystinosis, ocular nonnephropathic OMIM:219750; nephropathic cystinosis MONDO:0100151; juvenile nephropathic cystinosis MONDO:0009066; ocular cystinosis MONDO:0009064

13 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: CTNS was added gene: CTNS was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTNS were set to Cystinosis, atypical nephropathic 219800; Cystinosis, nephropathic 219800; Cystinosis, late-onset juvenile or adolescent nephropathic 219900; Cystinosis, ocular nonnephropathic 219750