CTNS

cystinosin, lysosomal cystine transporter
OMIM: 606272, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green CTNS in Lysosomal storage disorder Version 3.3 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green North London GLH Phenotypes Cystinosis, atypical nephropathic OMIM:219800 Cystinosis, nephropathic OMIM:219800 Cystinosis, late-onset juvenile or adolescent nephropathic OMIM:219900 Cystinosis, ocular nonnephropathic OMIM:219750 nephropathic cystinosis MONDO:0100151 juvenile nephropathic cystinosis MONDO:0009066 ocular cystinosis MONDO:0009064
Green CTNS in Unexplained kidney failure in young people Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 1.119 Component of the following Super Panels: Renal superpanel - broad	review	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen UKGTN Literature Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Expert Review Phenotypes Cystinosis, atypical nephropathic 219800 Cystinosis, late-onset juvenile or adolescent nephropathic 219900 Cystinosis, nephropathic 219800
Green CTNS in Unexplained young onset end-stage renal disease Version 3.42 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cystinosis, atypical nephropathic 219800 Cystinosis, nephropathic 219800 Cystinosis, late-onset juvenile or adolescent nephropathic 219900
Green CTNS in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Literature Phenotypes Cystinosis, atypical nephropathic 219800 Cystinosis, late-onset juvenile or adolescent nephropathic 219900 Cystinosis, nephropathic 219800 Cystinosis, ocular nonnephropathic 219750
Green CTNS in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Cystinosis, atypical nephropathic
Red CTNS in Fetal anomalies Version 3.169 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes CYSTINOSIS NEPHROPATHIC TYPE CYSTINOSIS LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE CYSTINOSIS ADULT NON-NEPHROPATHIC TYPE
Green CTNS in DDG2P Version 3.90 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CYSTINOSIS ADULT NON-NEPHROPATHIC TYPE 219750 CYSTINOSIS LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE 219900 CYSTINOSIS NEPHROPATHIC TYPE 219800
Green CTNS in Renal tubulopathies Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 4.17 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Literature Emory Genetics Laboratory Expert Review Phenotypes Cystinosis, atypical nephropathic 219800 Cystinosis, late-onset juvenile or adolescent nephropathic 219900 Cystinosis, nephropathic 219800 Cystinosis, ocular nonnephropathic 219750
Red CTNS in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.550 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Cystinosis, nephropathic, 219800 Cystinosis, ocular nonnephropathic, 219750 Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 Cystinosis, atypical nephropathic, 219800
Red CTNS in Childhood onset dystonia, chorea or related movement disorder Version 3.78 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green CTNS in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Cystinosis, atypical nephropathic, 219800 Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 Cystinosis, ocular nonnephropathic, 219750 Cystinosis, nephropathic, 219800
Green CTNS in Cystinosis Version 1.1 Latest signed off version: v1.0 (14 Sep 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS