PanelApp
  1. Genes and Genomic Entities
  2. CCDC88A

CCDC88A

coiled-coil domain containing 88A
OMIM: 609736, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green CCDC88A in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • PEHO syndrome-like, MIM# 617507

Green CCDC88A in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.357

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • PEHO syndrome-like (MIM#617507)

Amber CCDC88A in Optic Atrophy


Level 2: Ophthalmological disorders
Version 1.54

Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • PEHO syndrome-like, MIM#617507

    Green CCDC88A in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.267

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • PEHO syndrome-like, 617507

    Green CCDC88A in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • PEHO syndrome-like, MIM# 617507

    Red CCDC88A in Lymphoedema_syndromic

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 0.12

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Red
    Phenotypes
    • ?PEHO syndrome-like, 617507

    Amber CCDC88A in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • PEHO syndrome-like (MIM#617507)