CSTB

cystatin B
OMIM: 601145, Gene2Phenotype

23 panels

Panel Reviews Mode of inheritance Details
23 panels

Green CSTB in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.81

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Epilepsy, progressive myoclonic 1A, 254800
  • microcephaly and severe dyskinesia (26843564)

Red CSTB in Ataxia and cerebellar anomalies - narrow panel


Version 2.1
Signed off v.2.0 on 11 Dec 2019

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800

    Red CSTB in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.205

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800

    Red CSTB in Paroxysmal central nervous system disorders


    Version 1.1
    Signed off v.1.0 on 11 Dec 2019

    review Not set
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH

    Red CSTB in Neurodegenerative disorders - adult onset


    Version 2.1
    Signed off v.2.0 on 11 Dec 2019

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Epilepsy, progressive myoclonic 1A, 254800
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800
    • microcephaly and severe dyskinesia (26843564)

    Amber CSTB in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.413

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Myoclonic epilepsy of Unverricht and Lundborg (Other metabolic disorders)
    • Intellectual disability

    Amber CSTB in Inborn errors of metabolism


    Version 2.4
    Signed off v.2.3 on 17 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800

    Red CSTB in Fetal anomalies


    Version 1.3
    Signed off v.1.2 on 17 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • UNVERRICHT-LUNDBORG DISEASE

    Green CSTB in DDG2P


    Version 2.3
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • UNVERRICHT-LUNDBORG DISEASE 254800

    Green CSTB in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.3
    Signed off v.2.2 on 13 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • NIHRBR-RD Consortium SPEED_v3.0_20170404
    • Victorian Clinical Genetics Services
    • Expert
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800
    Tags
    • nucleotide-repeat-expansion

    Green CSTB in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.3
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • UNVERRICHT-LUNDBORG DISEASE
    Tags
    • nucleotide-repeat-expansion

    Green CSTB in Hereditary ataxia - adult onset


    Version 2.1
    Signed off v.2.0 on 29 Nov 2019

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Hereditary ataxia v1.148
    Phenotypes
    • Progressive myoclonic epilepsy 1A, 254800
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800

    Red CSTB in Adult onset movement disorder


    Version 1.1
    Signed off v.1.0 on 29 Nov 2019

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    Phenotypes
    • microcephaly and severe dyskinesia (26843564)
    • Epilepsy, progressive myoclonic 1A, 254800

    Green CSTB in Childhood onset dystonia or chorea or related movement disorder


    Version 1.1
    Signed off v.1.0 on 12 Dec 2019

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • microcephaly and severe dyskinesia
    • Epilepsy, progressive myoclonic 1A, 254800

    Green CSTB_CCCCGCCCCGCG STR in Brain channelopathy

    Level 3: Channelopathies
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.55

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
    Tags
    • STR

    Green CSTB_CCCCGCCCCGCG STR in Ataxia and cerebellar anomalies - narrow panel


    Version 2.1
    Signed off v.2.0 on 11 Dec 2019

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
    Tags
    • STR

    Green CSTB_CCCCGCCCCGCG STR in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.205

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
    Tags
    • STR

    Red CSTB_CCCCGCCCCGCG STR in Paroxysmal central nervous system disorders


    Version 1.1
    Signed off v.1.0 on 11 Dec 2019

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
    Tags
    • STR

    Green CSTB_CCCCGCCCCGCG STR in Neurodegenerative disorders - adult onset


    Version 2.1
    Signed off v.2.0 on 11 Dec 2019

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Yorkshire and North East GLH
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
    Tags
    • STR

    Green CSTB_CCCCGCCCCGCG STR in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.3
    Signed off v.2.2 on 13 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
    Tags
    • STR

    No list CSTB_CCCCGCCCCGCG STR in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.3
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Removed
    • Expert list
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
    Tags
    • STR

    Green CSTB_CCCCGCCCCGCG STR in Hereditary ataxia - adult onset


    Version 2.1
    Signed off v.2.0 on 29 Nov 2019

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
    Tags
    • STR

    Green CSTB_CCCCGCCCCGCG STR in Adult onset movement disorder


    Version 1.1
    Signed off v.1.0 on 29 Nov 2019

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
    Tags
    • STR