Severe microcephaly
Region: ISCA-37390-Loss5p15 terminal (Cri du chat syndrome) region Loss
The required percent of overlap for this region has been changed from 80% to 60% following NHS Genomic Medicine Service approval.Created: 16 Mar 2022, 12:16 p.m. | Last Modified: 16 Mar 2022, 12:16 p.m.
Panel Version: 2.294
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this region GreenCreated: 29 Jul 2019, 4:20 p.m. | Last Modified: 29 Jul 2019, 4:20 p.m.
Panel Version: 1.62
Triplosensitivity Score for ISCA-37390-Loss was changed from None to . Required Overlap Percentage for ISCA-37390-Loss was changed from 80 to 60.
Triplosensitivity Score for ISCA-37390-Loss was changed from to None. Source NHS GMS was added to Region: ISCA-37390-Loss.
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