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Monogenic short stature

Region: ISCA-37392-Loss

7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Loss

Red List (low evidence)
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

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, 11:23 a.m. | Last Modified: 16 Mar 2022, 11:23 a.m.
Panel Version: 1.101
Created: 16 Mar 2022, 11:23 a.m.
Last Modified: 16 Mar 2022, 11:23 a.m.
Copied from panel: Growth failure in early childhood v3.85

Rebecca Foulger (Genomics England curator)

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, demoted this CNV from Green to Red because Clinical Indication R147 will be delivered by panel/exome.
Created: 30 May 2019, 10:01 a.m.
Created: 30 May 2019, 10:01 a.m.

Copied from panel: Growth failure in early childhood v3.85

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
  • ClinGen
  • Expert Review Red
Phenotypes
  • Williams-Beuren syndrome, OMIM:194050
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

26 Mar 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Region: ISCA-37392-Loss was added Region: ISCA-37392-Loss was added to Monogenic short stature. Sources: Expert Review Red,ClinGen 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 Williams-Beuren syndrome, OMIM:194050