Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Cerebral Palsy v1.55 DOCK6 Zornitza Stark Marked gene: DOCK6 as ready
Cerebral Palsy v1.55 DOCK6 Zornitza Stark Gene: dock6 has been classified as Green List (High Evidence).
Cerebral Palsy v1.55 DOCK6 Zornitza Stark Classified gene: DOCK6 as Green List (high evidence)
Cerebral Palsy v1.55 DOCK6 Zornitza Stark Gene: dock6 has been classified as Green List (High Evidence).
Cerebral Palsy v1.36 DOCK6 Luisa Weiss 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
Added comment: 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: Literature