PanelApp (test)
  1. Genes and Genomic Entities
  2. CCDC88C:Ensemblv90

CCDC88C:Ensemblv90

coiled-coil domain containing 88C
OMIM: 611204, ClinGen, DECIPHER

21 panels

Panel Reviews Mode of inheritance Details
21 panels

Green CCDC88C in Hydrocephalus_Ventriculomegaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.132

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hydrocephalus, nonsyndromic, autosomal recessive 236600

Green CCDC88C in Mendeliome


Version 1.3802

4 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 40, MIM#616053
  • Hydrocephalus, nonsyndromic, autosomal recessive 236600
  • Early-onset pure hereditary spastic paraplegia

Green CCDC88C in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.309

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Hydrocephalus, congenital, 1 MIM#236600

    Amber CCDC88C in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.601

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Spinocerebellar ataxia 40, MIM#616053

    Green CCDC88C in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.508

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Hydrocephalus, nonsyndromic, autosomal recessive 236600 AR

    Amber CCDC88C in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.62

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  3 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Royal Melbourne Hospital
    • GeneReviews
    • Victorian Clinical Genetics Services
    Phenotypes
    • autosomal dominant spinocerebellar ataxia
    • ?Spinocerebellar ataxia 40, 616053

    Amber CCDC88C in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.162

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  3 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • GeneReviews
    • Royal Melbourne Hospital
    • Expert Review Amber
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • autosomal dominant spinocerebellar ataxia
    • ?Spinocerebellar ataxia 40, 616053

    Amber CCDC88C in Hereditary Spastic Paraplegia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.130

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Early-onset pure hereditary spastic paraplegia

    Green CCDC88C in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.111

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3)

    Red CCDC88C in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Hydrocephalus

    Green CCDC88C in Fetal anomalies


    Version 1.482

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hydrocephalus, nonsyndromic, autosomal recessive 1, MONDO:0009360
    • Hydrocephalus, congenital, 1, OMIM:236600

    Green CCDC88C in Prepair 1000+


    Level 2: Screening
    Version 2.15

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hydrocephalus, congenital, 1 MIM#236600

    Red CCDC88C in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Hydrocephalus

    Green CCDC88C in Prepair 500+


    Level 2: Screening
    Version 2.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Hydrocephalus, congenital, 1 MIM#236600

    Green CCDC88C in Hydrocephalus_Ventriculomegaly


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Hydrocephalus, nonsyndromic, autosomal recessive 236600

    Green CCDC88C in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Hydrocephalus, congenital, 1 MIM#236600

    Amber CCDC88C in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		3 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • GeneReviews
    • Royal Melbourne Hospital
    • Expert Review Amber
    Phenotypes
    • autosomal dominant spinocerebellar ataxia
    • ?Spinocerebellar ataxia 40, 616053

    Amber CCDC88C in Hereditary Spastic Paraplegia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Amber
    Phenotypes
    • Early-onset pure hereditary spastic paraplegia

    Green CCDC88C in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 1.0

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Mackenzie's Mission
    • Expert Review Green
    Phenotypes
    • Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3)

    Green CCDC88C in Prepair 1000+


    Level 2: Screening
    Version 3.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Mackenzie's Mission
    • Expert Review Green
    Phenotypes
    • Hydrocephalus, congenital, 1 MIM#236600

    Green CCDC88C in Prepair 500+


    Level 2: Screening
    Version 3.0

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Mackenzie's Mission
    • Expert Review Green
    Phenotypes
    • Hydrocephalus, congenital, 1 MIM#236600