Congenital Heart Defect

Gene: DOCK6

Green List (high evidence)

Panel includes both syndromic and non-syndromic causes of CHD. CHD is reported in around a third of individuals with AOS. Agree unlikely associated with isolated CHD.

Created: 16 Nov 2023, 1:56 a.m. | Last Modified: 16 Nov 2023, 1:56 a.m.

Panel Version: 0.313

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Adams-Oliver syndrome 2 MIM#614219

Publications

• 28160419

Red List (low evidence)

Strong association with Adams-Oliver Syndrome 2 (Shaheen et al: PMIDs 21820096, 23522784, Sukalo et al: PMID 25824905). Although congenital cardiac malformation has been associated with Adams-Oliver syndrome 2 (Zapata et al: PMID 7606848), genetic evidence suggests only casual association of DOCK6 with heart disease phenotypes.

In a study of a congenital heart disease gene list (132 genes), Chui et al (PMID 3679878) found evidence was not strong enough to include DOCK6 in a conotruncal cardiac defects gene panel. Recommended further investigation with broader ethnic range.

Created: 15 Nov 2023, 10:09 a.m. | Last Modified: 15 Nov 2023, 10:09 a.m.

Panel Version: 0.313

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neurological disorders; impaired intellectual development; microcephaly; aplasia cutis congenita; terminal transverse limb defects

Publications

• PMID: 21820096
• 23522784
• 7606848
• 25824905
• 25824905
• 36789878

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments