1. Genes and Genomic Entities
  2. CSTB

CSTB

cystatin B
OMIM: 601145, Gene2Phenotype

25 panels

Panel Reviews Mode of inheritance Details
25 panels
Green CSTB in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.147

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
Tags
  • nucleotide-repeat-expansion
Green CSTB in Ataxia and cerebellar anomalies - narrow panel


Version 4.63
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) OMIM:254800
    • Unverricht-Lundborg syndrome MONDO:0009698
    Tags
    • nucleotide-repeat-expansion
    Green CSTB in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.332

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
    Tags
    • nucleotide-repeat-expansion
    Red CSTB in Paroxysmal central nervous system disorders


    Version 3.10
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
    Tags
    • nucleotide-repeat-expansion
    Red CSTB in Adult onset neurodegenerative disorder


    Version 4.47
    Latest signed off version: v4.34 (31 Jul 2023)

    		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 (Unverricht and Lundborg), OMIM:254800
    Tags
    • nucleotide-repeat-expansion
    Amber CSTB in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.617

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
    Tags
    • nucleotide-repeat-expansion
    Amber CSTB 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 Amber
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
    Tags
    • nucleotide-repeat-expansion
    Red CSTB in Fetal anomalies


    Version 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
    Tags
    • nucleotide-repeat-expansion
    Green CSTB in DDG2P


    Version 3.87
    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
    • UNVERRICHT-LUNDBORG DISEASE 254800
    Tags
    • nucleotide-repeat-expansion
    Green CSTB in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.193
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  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), OMIM:254800
    Tags
    • nucleotide-repeat-expansion
    Green CSTB in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    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 Green
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
    Tags
    • nucleotide-repeat-expansion
    Green CSTB in Hereditary ataxia with onset in adulthood


    Version 4.34
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Hereditary ataxia v1.148
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
    Tags
    • nucleotide-repeat-expansion
    Red CSTB in Adult onset dystonia, chorea or related movement disorder


    Version 3.18
    Latest signed off version: v3.12 (31 Jul 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
    Tags
    • nucleotide-repeat-expansion
    Green CSTB in Childhood onset dystonia, chorea or related movement disorder


    Version 3.75
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) OMIM:254800
    • Unverricht-Lundborg syndrome MONDO:0009698
    Tags
    • nucleotide-repeat-expansion
    Green CSTB in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800
    Tags
    • nucleotide-repeat-expansion
    Green CSTB_CCCCGCCCCGCG STR in Brain channelopathy

    Level 3: Channelopathies
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.80

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
    Tags
    • STR
    Green CSTB_CCCCGCCCCGCG STR in Ataxia and cerebellar anomalies - narrow panel


    Version 4.63
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) OMIM:254800
    • Unverricht-Lundborg syndrome MONDO:0009698
    Tags
    • STR
    Green CSTB_CCCCGCCCCGCG STR in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.332

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
    Tags
    • STR
    Red CSTB_CCCCGCCCCGCG STR in Paroxysmal central nervous system disorders


    Version 3.10
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    • Expert list
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
    Tags
    • STR
    Amber CSTB_CCCCGCCCCGCG STR in Adult onset neurodegenerative disorder


    Version 4.47
    Latest signed off version: v4.34 (31 Jul 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    • Yorkshire and North East GLH
    • Expert list
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
    Tags
    • STR
    • watchlist
    Green CSTB_CCCCGCCCCGCG STR in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.193
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
    Tags
    • STR
    No list CSTB_CCCCGCCCCGCG STR in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    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
    • NHS GMS
    • Expert Review Removed
    • Expert list
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
    Tags
    • STR
    • curated_removed
    Green CSTB_CCCCGCCCCGCG STR in Hereditary ataxia with onset in adulthood


    Version 4.34
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
    Tags
    • STR
    Green CSTB_CCCCGCCCCGCG STR in Adult onset dystonia, chorea or related movement disorder


    Version 3.18
    Latest signed off version: v3.12 (31 Jul 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
    Tags
    • STR
    Green CSTB_CCCCGCCCCGCG STR in Childhood onset dystonia, chorea or related movement disorder


    Version 3.75
    Latest signed off version: v3.0 (22 Mar 2023)

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