| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Brain Calcification v1.108 | DOCK6 | Zornitza Stark Marked gene: DOCK6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.108 | DOCK6 | Zornitza Stark Gene: dock6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.108 | DOCK6 | Zornitza Stark Classified gene: DOCK6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.108 | DOCK6 | Zornitza Stark Gene: dock6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.107 | DOCK6 |
Zornitza Stark gene: DOCK6 was added gene: DOCK6 was added to Brain Calcification. Sources: Literature Mode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOCK6 were set to 28884918; 40481473; 30111349 Phenotypes for gene: DOCK6 were set to Adams-Oliver syndrome 2 MIM#614219 Review for gene: DOCK6 was set to GREEN Added comment: PMID 28884918 and PMID 40481473 report 2 individuals from 2 unrelated families with autosomal recessive loss‑of‑function DOCK6 variants causing Adams‑Oliver syndrome type 2; the latter case includes prenatal ventriculomegaly, paraventricular calcifications, thin corpus callosum and ventricular septal defect. PMID 30111349 reports an individual with biallelic DOCK6 variants presenting as an atypical Aicardi–Goutières‑like syndrome with cerebral calcifications. Sources: Literature |
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