IUGR and IGF abnormalities
Region: ISCA-37392-Loss7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Loss
Chromosome: 7
GRCh38 Position: 73330452-74728172
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 60%
Variant types: CNV Loss
GRCh38 Position: 73330452-74728172
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 60%
Variant types: CNV Loss
1 review
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, 11:23 a.m. | Last Modified: 16 Mar 2022, 11:23 a.m.
Panel Version: 1.51
Details
- ISCA ID
- ISCA-37392-Loss
- ISCA Region Name
- 7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Loss
- Chromosome
- 7
- GRCh38 Coordinates
- 73330452-74728172
- Haploinsufficiency Score
- Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
- Triplosensitivity Score
- Required percent of overlap
- 60%
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- ClinGen
- Phenotypes
-
- 194050
- Williams syndrome
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Loss
- Publications
History Filter Activity
16 Mar 2022, Gel status: 3
Changed GRCh38, Changed Required Overlap Percentage
Arina Puzriakova (Genomics England Curator)GRCh38 position for ISCA-37392-Loss was changed from 73330451-74728175 to 73330452-74728172. Required Overlap Percentage for ISCA-37392-Loss was changed from 80 to 60.
7 Sep 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Louise Daugherty (Genomics England Curator)Region: ISCA-37392-Loss was added Region: ISCA-37392-Loss was added to IUGR and IGF abnormalities. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37392-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37392-Loss were set to 20301427 Phenotypes for Region: ISCA-37392-Loss were set to 194050; Williams syndrome