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  3. ISCA-37392-Loss
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Common deletion and duplication syndromes

Region: ISCA-37392-Loss

Williams-Beuren syndrome, 7q11.23 deletion syndrome

Green List (high evidence)
Chromosome: 7
GRCh38 Position: 73330451-74728175
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 80%
Variant types: CNV Loss

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established recurrent CNV.
Sources: Expert Review
Created: 27 Nov 2020, 9:49 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Williams-Beuren syndrome, MIM# 194050; intellectual disability; growth retardation; cardiovascular disease

Publications

Created: 27 Nov 2020, 9:49 a.m.

Panel version: 0.12

Details

ISCA ID
ISCA-37392-Loss
ISCA Region Name
Williams-Beuren syndrome, 7q11.23 deletion syndrome
Chromosome
7
GRCh38 Coordinates
73330451-74728175
Haploinsufficiency Score
Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score
Required percent of overlap
80%
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Williams-Beuren syndrome, MIM# 194050
  • intellectual disability
  • growth retardation
  • cardiovascular disease
Tags
SV/CNV
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

27 Nov 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for Region: ISCA-37392-Loss were changed from Williams-Beuren syndrome; intellectual disability; growth retardation; cardiovascular disease to Williams-Beuren syndrome, MIM# 194050; intellectual disability; growth retardation; cardiovascular disease

27 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Region: isca-37392-loss has been classified as Green List (High Evidence).

27 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Region: isca-37392-loss has been classified as Green List (High Evidence).

27 Nov 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Region: ISCA-37392-Loss was added Region: ISCA-37392-Loss was added to Common deletion and duplication syndromes. Sources: Expert Review SV/CNV tags were added to Region: ISCA-37392-Loss. Mode of inheritance for Region: ISCA-37392-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37392-Loss were set to 20301427 Phenotypes for Region: ISCA-37392-Loss were set to Williams-Beuren syndrome; intellectual disability; growth retardation; cardiovascular disease Review for Region: ISCA-37392-Loss was set to GREEN