Severe microcephalyRegion: ISCA-37425-Gain
5q35 recurrent (Sotos syndrome) region (includes NSD1) Gain
The required percent of overlap for this region has been changed from 80% to 60% and the genomic location has been updated inline with ClinGen following NHS Genomic Medicine Service approval.
Created: 16 Mar 2022, 1:03 p.m. | Last Modified: 16 Mar 2022, 1:03 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 Green
Created: 29 Jul 2019, 4:20 p.m. | Last Modified: 29 Jul 2019, 4:20 p.m.
Panel Version: 1.62
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.
Haploinsufficiency Score for ISCA-37425-Gain was changed from to None. Source NHS GMS was added to Region: ISCA-37425-Gain.
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.