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  3. ISCA-37404-Gain
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Common deletion and duplication syndromes

Region: ISCA-37404-Gain

Chromosome 15q11q13 duplication syndrome

Green List (high evidence)
Chromosome: 15
GRCh38 Position: 22782170-28134729
Haploinsufficiency Score:
Triplosensitivity Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap: 80%
Variant types: CNV Gain

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established CNV.
Sources: Expert list
Created: 30 Nov 2020, 7:17 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Chromosome 15q11q13 duplication syndrome; {Autism susceptibility 4} 608636; intellectual disability; seizures; ataxia

Publications

Created: 30 Nov 2020, 7:17 a.m.

Panel version: 0.29

Details

ISCA ID
ISCA-37404-Gain
ISCA Region Name
Chromosome 15q11q13 duplication syndrome
Chromosome
15
GRCh38 Coordinates
22782170-28134729
Haploinsufficiency Score
Triplosensitivity Score
Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap
80%
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Chromosome 15q11q13 duplication syndrome
  • {Autism susceptibility 4} 608636
  • intellectual disability
  • seizures
  • ataxia
Tags
SV/CNV
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Gain
Publications

History Filter Activity

30 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Region: isca-37404-gain has been classified as Green List (High Evidence).

30 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Region: isca-37404-gain has been classified as Green List (High Evidence).

30 Nov 2020, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to Region: ISCA-37404-Gain.

30 Nov 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Region: ISCA-37404-Gain was added Region: ISCA-37404-Gain was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37404-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37404-Gain were set to 24239951; 24075935 Phenotypes for Region: ISCA-37404-Gain were set to Chromosome 15q11q13 duplication syndrome; {Autism susceptibility 4} 608636; intellectual disability; seizures; ataxia Review for Region: ISCA-37404-Gain was set to GREEN