Genomics England
GMS Panels
Panels
Genes and Entities

CTNS

cystinosin, lysosomal cystine transporter
OMIM: 606272
PanelMode of inheritanceDetails
6 panels
Green
in Cystinosis
R-numbers: R334
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CYSTINOSIS ADULT NON-NEPHROPATHIC TYPE 219750, CYSTINOSIS LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE 219900, CYSTINOSIS NEPHROPATHIC TYPE 219800
Green
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cystinosis, atypical nephropathic
Green
in Lysosomal storage disorder
R-numbers: R276
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
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
in Renal tubulopathies
R-numbers: R198
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cystinosis, atypical nephropathic 219800, Cystinosis, late-onset juvenile or adolescent nephropathic 219900, Cystinosis, nephropathic 219800, Cystinosis, ocular nonnephropathic 219750
Green
in Unexplained young onset end-stage renal disease
R-numbers: R257
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cystinosis, atypical nephropathic 219800, Cystinosis, nephropathic 219800, Cystinosis, late-onset juvenile or adolescent nephropathic 219900