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  3. CTNS
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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 10 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

OMIM: CTNS encodes an integral membrane protein, that has features of a lysosomal membrane protein.

PMID: 32564281 - Reports many patients with biallelic variants and nephropathic cystinosis.
Protein transports free cystine from lysosomes to cytoplasm, free cystine accumulates in lysosomes and forms cystine crystals that lead to tissue and organ damage.
Sources: Expert list
Created: 22 Jul 2020, 5:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 22 Jul 2020, 5:30 a.m.

Panel version: 0.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cystinosis, late-onset juvenile or adolescent nephropathic 219900
  • Cystinosis, nephropathic 219800
  • Cystinosis, ocular nonnephropathic 219750
Tags
treatable
OMIM
606272
Clinvar variants
Variants in CTNS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: CTNS.

22 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ctns has been classified as Green List (High Evidence).

22 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ctns has been classified as Green List (High Evidence).

22 Jul 2020, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: CTNS was added gene: CTNS was added to Storage Disorder. Sources: Expert list Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTNS were set to PMID: 32564281 Phenotypes for gene: CTNS were set to Cystinosis, late-onset juvenile or adolescent nephropathic 219900; Cystinosis, nephropathic 219800; Cystinosis, ocular nonnephropathic 219750 Review for gene: CTNS was set to GREEN