Skeletal dysplasia
Gene: DOCK6

DOCK6 (dedicator of cytokinesis 6)
EnsemblGeneIds (GRCh38): ENSG00000130158
EnsemblGeneIds (GRCh37): ENSG00000130158
OMIM: 614194, Gene2Phenotype
DOCK6 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems.

More than 10 unrelated families reported.
Created: 6 Dec 2021, 9:40 a.m. | Last Modified: 6 Dec 2021, 9:40 a.m.

Panel Version: 0.10153

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Adams-Oliver syndrome 2, MIM#614219

Publications

Created: 6 Dec 2021, 9:40 a.m.
Last Modified: 6 Dec 2021, 9:40 a.m.
Panel version: Imported from Mendeliome panel version 0.10153

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Green
Expert list
Radboud University Medical Center, Nijmegen
NHS GMS
Victorian Clinical Genetics Services

Phenotypes

Adams-Oliver syndrome 2 614219
Adams-Oliver syndrome 2 614219

OMIM

614194

Clinvar variants

Variants in DOCK6

Penetrance

None

Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DOCK6 was added gene: DOCK6 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DOCK6 were set to Adams-Oliver syndrome 2 614219; Adams-Oliver syndrome 2 614219

Skeletal dysplasia Gene: DOCK6