Cerebral Palsy
Gene: DOCK6
DOCK6 (dedicator of cytokinesis 6)
EnsemblGeneIds (GRCh38): ENSG00000130158
EnsemblGeneIds (GRCh37): ENSG00000130158
OMIM: 614194, Gene2Phenotype
DOCK6 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000130158
EnsemblGeneIds (GRCh37): ENSG00000130158
OMIM: 614194, Gene2Phenotype
DOCK6 is in 12 panels
1 review
Luisa Weiss (University of Adelaide)
In one study (PMID:25824905) ten patients with Adams-Oliver syndrome type 2 were described, 4 of which had CP. All of them had ocular anomalies and scalp defects, indicating that there is a high phenotypic overlap with the autosomal recessive form of Adams-Oliver-syndrome that is associated with eye anomalies.
In another CP cohort study (PMID: 34114234) one patient with biallelic variants of unknown clinical significance in DOCK6 was described, but there was no indication of eye or skin anomalies.
Sources: LiteratureCreated: 29 May 2023, 12:23 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adams-Oliver syndrome 2 MIM#614219
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Adams-Oliver syndrome 2 MIM#614219
- OMIM
- 614194
- Clinvar variants
- Variants in DOCK6
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
30 May 2023, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dock6 has been classified as Green List (High Evidence).
30 May 2023, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dock6 has been classified as Green List (High Evidence).
29 May 2023, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Luisa Weiss (University of Adelaide)gene: DOCK6 was added gene: DOCK6 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOCK6 were set to 25824905; 34114234 Phenotypes for gene: DOCK6 were set to Adams-Oliver syndrome 2 MIM#614219 Review for gene: DOCK6 was set to GREEN