Common deletion and duplication syndromes
Region: ISCA-37404-Loss
Angelman and Prader-Willi syndromes

Chromosome: 15
GRCh38 Position: 22782170-28134729
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. Note locus is imprinted and resultant phenotype depends on whether the maternal or paternal allele is deleted.
Sources: Expert list
Created: 30 Nov 2020, 7:29 a.m. | Last Modified: 30 Nov 2020, 7:30 a.m.

Panel Version: 0.33

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Angelman syndrome, MIM# 105830; Prader-Willi syndrome, MIM# 176270

Publications

Created: 30 Nov 2020, 7:29 a.m.
Last Modified: 30 Nov 2020, 7:30 a.m.
Panel version: 0.33

Details

ISCA ID

ISCA-37404-Loss

ISCA Region Name

Angelman and Prader-Willi syndromes

Chromosome

GRCh38 Coordinates

22782170-28134729

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, imprinted status unknown

Sources

Expert Review Green
Expert list

Phenotypes

Angelman syndrome, MIM# 105830
Prader-Willi syndrome, MIM# 176270

Tags

SV/CNV

Clinvar variants

Variants in

Penetrance

None

Variant types

CNV Loss

Publications