Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

BabyScreen+ newborn screening

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Typical onset is in early childhood, though later presentations reported.
Created: 10 Oct 2022, 7:22 a.m. | Last Modified: 10 Oct 2022, 7:22 a.m.
Panel Version: 0.525

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cystinosis, nephropathic MIM#219800

John Christodoulou (Murdoch Children's Research Institute)

Green List (high evidence)

lysosomal storage disorder - cystine accumulation results in Fanconi syndrome and ultimately chronic renal failure

treatable with oral and ophthalmic cysteamine (https://actionability.clinicalgenome.org/ac/Pediatric/ui/summ/scoring) and renal transplant
Created: 10 Oct 2022, 12:13 a.m. | Last Modified: 10 Oct 2022, 12:13 a.m.
Panel Version: 0.523

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi tubulopathy, photophobia, chronic renal failure

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Cystinosis, nephropathic MIM#219800
Tags
treatable renal
OMIM
606272
Clinvar variants
Variants in CTNS
Penetrance
None
Panels with this gene

History Filter Activity

27 Dec 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag renal tag was added to gene: CTNS.

10 Oct 2022, 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).

10 Oct 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CTNS were changed from Cystinosis to Cystinosis, nephropathic MIM#219800

10 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: CTNS.

18 Sep 2022, Gel status: 3

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 gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTNS were set to Cystinosis