CTNS

cystinosin, lysosomal cystine transporter
OMIM: 606272, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green CTNS in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cystinosis, atypical nephropathic MIM#219800 Cystinosis, late-onset juvenile or adolescent nephropathic MIM#219900 Cystinosis, nephropathic MIM#219800 Cystinosis, ocular nonnephropathic MIM#219750 Tags treatable
Green CTNS in Lysosomal Storage Disorder Level 2: Metabolic conditions Version 1.11 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	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
Green CTNS in Calcium and Phosphate disorders Level 2: Renal and urinary tract disorders; Endocrine disorders Version 1.24	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert Review Green Expert list Phenotypes Cystinosis, nephropathic MIM#219800
Green CTNS in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cystinosis, nephropathic, 219800 (3)
Green CTNS in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Cystinosis
Red CTNS in Fetal anomalies Version 1.255	review	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
Green CTNS in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cystinosis, nephropathic, 219800 (3)
Green CTNS in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Cystinosis, nephropathic MIM#219800 Tags treatable renal
Green CTNS in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 1.14 Component of the following Super Panels: Kidneyome_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Expert Review Green Expert Review Green Expert list Phenotypes Cystinosis, nephropathic MIM#219800
Green CTNS in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cystinosis, nephropathic, 219800 (3)