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Fetal anomalies

Gene: CTNS

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Typically presents post-natally.
Created: 11 Feb 2022, 6:15 a.m. | Last Modified: 11 Feb 2022, 6:15 a.m.
Panel Version: 0.3288

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cystinosis

Created: 11 Feb 2022, 6:15 a.m.
Last Modified: 11 Feb 2022, 6:15 a.m.
Panel version: 0.3288

Belinda Chong (Victorian Clinical Genetics Services)

Red List (low evidence)

Presents post-natally.

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.
Created: 11 Feb 2022, 5:37 a.m. | Last Modified: 11 Feb 2022, 5:37 a.m.
Panel Version: 0.3279

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
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: 11 Feb 2022, 5:37 a.m.
Last Modified: 11 Feb 2022, 5:37 a.m.
Panel version: 0.3279

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Cystinosis, late-onset juvenile or adolescent nephropathic MIM#219900
  • Cystinosis, nephropathic MIM#219800
  • Cystinosis, ocular nonnephropathic MIM#219750
OMIM
606272
Clinvar variants
Variants in CTNS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ctns has been classified as Red List (Low Evidence).

11 Feb 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CTNS were changed from CYSTINOSIS NEPHROPATHIC TYPE; CYSTINOSIS LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE; CYSTINOSIS ADULT NON-NEPHROPATHIC TYPE to Cystinosis, late-onset juvenile or adolescent nephropathic MIM#219900; Cystinosis, nephropathic MIM#219800; Cystinosis, ocular nonnephropathic MIM#219750

11 Feb 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CTNS were set to

24 Oct 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CTNS was added gene: CTNS was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTNS were set to CYSTINOSIS NEPHROPATHIC TYPE; CYSTINOSIS LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE; CYSTINOSIS ADULT NON-NEPHROPATHIC TYPE