PCDHGC4

protocadherin gamma subfamily C, 4
OMIM: 606305, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber PCDHGC4 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.315
Latest signed off version: v2.2 (2 Mar 2020)

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

Amber PCDHGC4 in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.572
Latest signed off version: v2.2 (13 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder with poor growth and skeletal anomalies, OMIM:619880
Tags
  • Q3_21_rating

Green PCDHGC4 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1677
Latest signed off version: v3.2 (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
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with poor growth and skeletal anomalies, OMIM:619880