CCDC88C

coiled-coil domain containing 88C
OMIM: 611204, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green CCDC88C in Hydrocephalus


Version 2.5
Signed off v.2.3 on 2 Mar 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Hydrocephalus, nonsyndromic, autosomal recessive 236600

Red CCDC88C in Ataxia and cerebellar anomalies - narrow panel


Version 2.6
Signed off v.2.2 on 2 Mar 2020

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    Phenotypes
    • autosomal dominant spinocerebellar ataxia

    Red CCDC88C in Hereditary ataxia

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

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Expert Review
    Phenotypes
    • autosomal dominant spinocerebellar ataxia

    Red CCDC88C in Autism


    Version 0.16

    review Not set
    Sources
    • Expert Review Red
    • SFARI

    Amber CCDC88C in Neurodegenerative disorders - adult onset


    Version 2.4
    Signed off v.2.2 on 2 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Yorkshire and North East GLH
    • NHS GMS
    • South West GLH
    Phenotypes
    • autosomal dominant spinocerebellar ataxia

    Amber CCDC88C in Fetal anomalies


    Version 1.73
    Signed off v.1.2 on 17 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE

    Amber CCDC88C in DDG2P


    Version 2.8
    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 Amber
    Phenotypes
    • HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 236600

    Amber CCDC88C in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.119
    Signed off v.2.2 on 13 Feb 2020

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • ?Spinocerebellar ataxia 40 616053 AD
    • Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR
    Tags
    • watchlist

    Green CCDC88C in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.160
    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
    • Victorian Clinical Genetics Services
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • ?Spinocerebellar ataxia 40 616053 AD
    • Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR

    Red CCDC88C in Hereditary ataxia - adult onset


    Version 2.8
    Signed off v.2.7 on 10 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Red
    • Hereditary ataxia v1.148
    Phenotypes
    • Spinocerebellar ataxia 40, 616053
    • autosomal dominant spinocerebellar ataxia

    Green CCDC88C in Severe Paediatric Disorders


    Version 1.6

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hydrocephalus, congenital, 1, 236600
    • ?Spinocerebellar ataxia 40