PCDHGC4

protocadherin gamma subfamily C, 4
OMIM: 606305, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber PCDHGC4 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.63
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with poor growth and skeletal anomalies, OMIM:619880
Green PCDHGC4 in DDG2P


Version 3.79
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
    • PCDHGC4-related neurodevelopmental disorder with microcephaly and seizures
    Green PCDHGC4 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.173
    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
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with poor growth and skeletal anomalies, OMIM:619880
    Green PCDHGC4 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.472
    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
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with poor growth and skeletal anomalies, OMIM:619880