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

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