DOCK6 dedicator of cytokinesis 6

Gene info

Synonyms

KIAA1395, ZIR1

Previous symbol

None

External ID

HGNC: 19189
Entrez Gene: 57572
Ensembl: ENSG00000130158
UCSC: uc002mqs.6
OMIM: 614194
UniProtKB: Q96HP0

Disease info

CHD Phenotype

  • Patent foramen ovale
  • Ventricular septal defect

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: no cardiovascular defect recorded

MGI ID

Variant info

Clinvar

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for DOCK6: BED file

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Selected References

  1. Hassed, S., Li, S., Mulvihill, J., Aston, C., & Palmer, S. (2017). Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype. American Journal of Medical Genetics Part A, 173(3), 790–800. DOI:10.1002/ajmg.a.37889 PMID:28160419
  2. Bramswig, N. C., Lüdecke, H.-J., Alanay, Y., Albrecht, B., Barthelmie, A., Boduroglu, K., … Wieczorek, D. (2015). Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes. Human Genetics, 134(6), 553–568. DOI:10.1007/s00439-015-1535-8 PMID:25724810