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Cystinosis

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

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #219800) and the OMIM record was last accessed on 17 December 2025.
Created: 17 Dec 2025, 11:33 p.m. | Last Modified: 17 Dec 2025, 11:33 p.m.
Panel Version: 1.2
CTNS has been added to the panel for R334 Cystinosis with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 30 Jun 2023, 11:53 a.m. | Last Modified: 30 Jun 2023, 11:53 a.m.
Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 30 Jun 2023, 11:53 a.m.
Last Modified: 30 Jun 2023, 11:53 a.m.
Panel version: 0.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Cystinosis, atypical nephropathic, OMIM:219800
  • Cystinosis, nephropathic, OMIM:219800
  • nephropathic cystinosis, MONDO:0100151
OMIM
606272
Clinvar variants
Variants in CTNS
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: CTNS were changed from to Cystinosis, atypical nephropathic, OMIM:219800; Cystinosis, nephropathic, OMIM:219800; nephropathic cystinosis, MONDO:0100151

29 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CTNS was added gene: CTNS was added to Cystinosis. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal