CSTB_CCCCGCCCCGCG

10 panels

Panel Reviews Mode of inheritance Details
10 panels
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 4.56
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 4.46
    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 4.175
    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 5.474
    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 4.30
    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 3.71
    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