Date Panel Item Activity
3 actions
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.
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.