1. Genes and Genomic Entities
  2. CC2D1A

CC2D1A

coiled-coil and C2 domain containing 1A
OMIM: 610055, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red CC2D1A in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Red CC2D1A 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
  • Intellectual developmental disorder, autosomal recessive 3, OMIM:608443
Green CC2D1A 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
    • MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 3 608443
    Green CC2D1A 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
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Intellectual developmental disorder, autosomal recessive 3, OMIM:608443
    Green CC2D1A in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mental retardation, autosomal recessive 3, 608443