Severe microcephaly
Region: ISCA-37425-Gain5q35 recurrent (Sotos syndrome) region (includes NSD1) Gain
GRCh38 Position: 176301976-177620792
Haploinsufficiency Score:
Triplosensitivity Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap: 60%
Variant types: CNV Gain
2 reviews
Arina Puzriakova (Genomics England Curator)
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
Louise Daugherty (Genomics England Curator)
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
Details
- ISCA ID
- ISCA-37425-Gain
- ISCA Region Name
- 5q35 recurrent (Sotos syndrome) region (includes NSD1) Gain
- Chromosome
- 5
- GRCh38 Coordinates
- 176301976-177620792
- Haploinsufficiency Score
- Triplosensitivity Score
- Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
- Required percent of overlap
- 60%
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- ClinGen
- Phenotypes
-
- 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.
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Gain
- Publications
History Filter Activity
Changed GRCh38, Changed Haploinsufficiency Score, Changed Required Overlap Percentage
Arina Puzriakova (Genomics England Curator)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.
Changed Haploinsufficiency Score, Added New Source
Louise Daugherty (Genomics England Curator)Haploinsufficiency Score for ISCA-37425-Gain was changed from to None. Source NHS GMS was added to Region: ISCA-37425-Gain.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Louise Daugherty (Genomics England Curator)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.