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Intellectual disability

Gene: DOCK6

Green List (high evidence)

DOCK6 (dedicator of cytokinesis 6)
EnsemblGeneIds (GRCh38): ENSG00000130158
EnsemblGeneIds (GRCh37): ENSG00000130158
OMIM: 614194, Gene2Phenotype
DOCK6 is in 8 panels

4 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Changed from Amber to Green. Appropriate phenotype, sufficient cases, external review comment and internal clinical review all support gene-disease association.
Created: 21 Feb 2019, 3:59 p.m.
Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, external review comment and internal clinical review all support gene-disease association.
Created: 21 Feb 2019, 3:57 p.m.

Konstantinos Varvagiannis (Other)

Green List (high evidence)

PMID: 25824905 is a report on 10 unrelated individuals with DOCK6-related Adams-Oliver syndrome with review of 5 further patients published until 2015. As the authors comment, developmental delay or intellectual disability ranging from mild to severe was a feature in all patients for whom sufficient information could be obtained (also summarized in table 1).

PMID: 27077170 is a review on Adams-Oliver syndrome. The authors cite the previous article and further note that severe intellectual and neurologic impairments appear to be consistent findings in Adams-Oliver syndrome due to biallelic DOCK6 mutations.

Loss-of-function variants appear to cause the disorder (all the following have been reported : nonsense, frameshift, splice site, deletions).

DOCK6 is included in gene panels for intellectual disability offered by different diagnostic laboratories.

As a result, this gene can possibly be considered for upgrade to green.
Created: 30 Nov 2018, 9:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Variants in this GENE are reported as part of current diagnostic practice

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked it as green as ID and neurologic impairments appear to be consistent findings in DOCK6-AOS, with findings in keeping with disturbed intracranial vasculogenesis (PMID:25824905 )
Created: 20 Nov 2017, 12:48 p.m.

Ellen McDonagh (Genomics England Curator)

I don't know

Probable DD gene for Adams-Oliver syndrome 2 in Gene2Phenotype and attached with the 'Global developmental delay' HPO term. Eighth patient reported in PMID 25091416, and discuss an unexpected high frequency of likely detrimental variants in this gene in allele frequency database. Two cases reported in PMID 21820096 with DOCK6 homozygous truncating mutations, however only one case displayed severe global developmental delay, whereas the other unrelated case had appropriate development except speech delay.
Created: 27 Oct 2017, 2:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Adams-Oliver syndrome 2 614219

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Adams-Oliver syndrome 2, 614219
  • intellectual disability, developmental delay
OMIM
614194
Clinvar variants
Variants in DOCK6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: dock6 has been classified as Green List (High Evidence).

21 Feb 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: DOCK6 were changed from Adams-Oliver syndrome 2 614219 to Adams-Oliver syndrome 2, 614219; intellectual disability, developmental delay

21 Feb 2019, Gel status: 2

Removed Tag

Louise Daugherty (Genomics England Curator)

Tag watchlist was removed from gene: DOCK6.

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

DOCK6 was added to Intellectual disability panel. Sources: Expert Review Amber

29 Nov 2017, Gel status: 2

Created

Ellen McDonagh (Genomics England Curator)

DOCK6 was created by Ellen McDonagh