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Inborn errors of metabolism

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

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 4 variants for Cystinosis, ocular nonnephropathic (OMIM 219750), 8 for Cystinosis, nephropathic or atypical nephropathic (OMIM 219800) and 5 for combinations of these phenotypes were reported .
Created: 19 Jan 2017, 3:29 p.m.

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CTNS. Source London North GLH was added to CTNS.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: CTNS was added gene: CTNS was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTNS were set to 219750 Phenotypes for gene: CTNS were set to Cystinosis, atypical nephropathic