Lysosomal Storage Disorder
Gene: CTNS
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 listCreated: 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
Tag treatable tag was added to gene: CTNS.
Gene: ctns has been classified as Green List (High Evidence).
Gene: ctns has been classified as Green List (High Evidence).
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