Skeletal dysplasia
Gene: DOCK6
Brachydactylies (with extraskeletal manifestations) gp of SD. Several cases reported; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adams-Oliver syndrome 2 614219
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: DOCK6; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 28 Jul 2016, 9:46 a.m.
Tier 2Created: 17 Jun 2016, 8:03 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adams-Oliver syndrome 2 614219
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Adams-Oliver syndrome 2 614219 for gene: DOCK6
Source NHS GMS was added to DOCK6. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for DOCK6 were set to Adams-Oliver syndrome 2 614219
Mode of inheritance for DOCK6 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
DOCK6 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
DOCK6All sources for gene: DOCK6 were removed
DOCK6 was added to Unexplained skeletal dysplasiapanel. Sources:
DOCK6 was created by sleigh