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| Intracerebral calcification disorders v1.30 | AP1S2 |
Arina Puzriakova Publications for gene: AP1S2 were set to 17617514 - identification of AP1S2 variants in a large 4-generation French family, and a Scottish family, marked calcifications of the basal ganglia were reported in affected individuals in both families; 18428203 - an additional two families reported "Studying four patients in two unrelated families in which AP1S2 nonsense and splicesite mutations segregated, we found that affected individuals presented, in addition to previously described features, with elevated protein levels in cerebrospinal fluid (CSF). Moreover, computed tomography scans demonstrated that the basal ganglia calcifications associated with AP1S2 mutations appeared during childhood and might be progressive. Based on these observations, we propose that AP1S2 mutations are responsible for a clinically recognizable XLMR and autism syndrome associating hypotonia, delayed walking, speech delay, aggressive behavior, brain calcifications, and elevated CSF protein levels." |
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| Intracerebral calcification disorders v1.29 | AP1S2 | Arina Puzriakova Phenotypes for gene: AP1S2 were changed from Calcifications in basal ganglia to Pettigrew syndrome, OMIM:304340; Calcifications in basal ganglia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders | AP1S2 | Ellen Thomas marked AP1S2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders | AP1S2 | Ellen Thomas classified AP1S2 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders | AP1S2 | Ellen Thomas commented on AP1S2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders | AP1S2 | Ellen McDonagh classified AP1S2 as amber | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders | AP1S2 | Ellen McDonagh commented on AP1S2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||