Date Panel Item Activity
3 actions
Severe microcephaly v1.63 ISCA-37390-Loss Louise Daugherty Triplosensitivity Score for ISCA-37390-Loss was changed from to None.
Source NHS GMS was added to Region: ISCA-37390-Loss.
Severe microcephaly v1.62 ISCA-37390-Loss Louise Daugherty reviewed Region: ISCA-37390-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Severe microcephaly v1.37 ISCA-37390-Loss Louise Daugherty Region: ISCA-37390-Loss was added
Region: ISCA-37390-Loss was added to Primary Microcephaly - Microcephalic Dwarfism Spectrum. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37390-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37390-Loss were set to 11238681; 15635506
Phenotypes for Region: ISCA-37390-Loss were set to 123450; PMID 15635506: characteristic cry, speech delay, facial dysmorphology, and level of mental retardation. PMID 11238681: interstitial deletions and one with a small terminal deletion confirmed the existence of two critical regions, one for dysmorphism and mental retardation in p15.2 and the other for the cat cry in p15.3. Results from one patient permitted the cat cry region to be distally narrowed from D5S13 to D5S731, study supports hypothesis of a separate region in p15.3 for the speech delay