CTNS

cystinosin, lysosomal cystine transporter
OMIM: 606272, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green CTNS in Lysosomal storage disorder Level 2: Metabolic Version 3.5 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 1.124	review	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services Expert Review Literature Emory Genetics Laboratory Phenotypes Cystinosis, atypical nephropathic 219800 Cystinosis, late-onset juvenile or adolescent nephropathic 219900 Cystinosis, nephropathic 219800
Green CTNS in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.643	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory 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 Level 2: Metabolic Version 8.103 Latest signed off version: v8.0 (30 Apr 2025) 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 Level 2: Fetal (including NIPD) Version 6.181 Latest signed off version: v6.0 (30 Apr 2025)	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 6.447 Latest signed off version: v6.0 (30 Apr 2025) 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 2: Renal Version 5.11 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Literature Emory Genetics Laboratory UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen 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 Level 2: Developmental disorders Version 9.345 Latest signed off version: v9.0 (30 Apr 2025) 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 Level 2: Neurology Version 7.18 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH
Green CTNS in Cystinosis Level 2: Metabolic Version 1.3 Latest signed off version: v1.0 (14 Sep 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cystinosis, atypical nephropathic, OMIM:219800 Cystinosis, nephropathic, OMIM:219800 nephropathic cystinosis, MONDO:0100151