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| Severe microcephaly v2.294 | ISCA-37425-Gain | Arina Puzriakova commented on Region: ISCA-37425-Gain | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.294 | ISCA-37425-Gain |
Arina Puzriakova GRCh38 position for ISCA-37425-Gain was changed from 176301975-177586960 to 176301976-177620792. Haploinsufficiency Score for ISCA-37425-Gain was changed from None to . Required Overlap Percentage for ISCA-37425-Gain was changed from 80 to 60. |
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| Severe microcephaly v1.66 | ISCA-37425-Gain |
Louise Daugherty Haploinsufficiency Score for ISCA-37425-Gain was changed from to None. Source NHS GMS was added to Region: ISCA-37425-Gain. |
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| Severe microcephaly v1.62 | ISCA-37425-Gain | Louise Daugherty reviewed Region: ISCA-37425-Gain: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.37 | ISCA-37425-Gain |
Louise Daugherty Region: ISCA-37425-Gain was added Region: ISCA-37425-Gain was added to Primary Microcephaly - Microcephalic Dwarfism Spectrum. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37425-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37425-Gain were set to 23913520; 23599694 Phenotypes for Region: ISCA-37425-Gain were set to Microcephaly, short stature and developmental delay; short stature, microcephaly, learning disability or mild to moderate ID, and distinctive facial features comprising periorbital fullness, short palpebral fissures, a long nose with broad or long nasal tip, a smooth philtrum and a thin upper lip vermilion. Behavioral problems, ocular and minor hand anomalies may be associated. |
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