Genotype-phenotype correlation of the CHD8-related developmental disorder: Call for collaboration (52)

Targeted gene(s)/phenotype under study:

  • Gene: CHD8  (MIM *610528)


Variants in the chromodomain helicase DNA-binding protein 8 (CHD8) have been associated with intellectual disability (ID), autism spectrum disorders (ASDs) and overgrowth. We previously investigated 25 individuals with CHD8 protein-truncating variants (PTVs) and showed that CHD8 haploinsufficiency is associated with a distinctive OGID syndrome with pronounced autistic traits [see PMID: 31001818]. We are collecting patients with:

(1) missense CHD8 VOUS and

(2) <1Mb gain CNV including the entire CHD8 gene

To explore further a possible genotype-phenotype correlation

Coordinating clinicians /researchers: 

  • Sofia Douzgou Houge


Department of Medical Genetics,

Haukeland University Hospital,

Bergen, Norway

Contact : 

Collaborating clinician:

  • Siddharth Banka


Manchester Centre for Genomic Medicine

Saint Marys Hospital

Manchester, UK

Specific requirements beyond clinical data and genotype data sharing:

  • Re-analysis of DNA samples: Yes, methylation profiling of pathogenic missense variants
  • Resampling of patients: No
  • Linked to a translational/basic research project? No