Common deletion and duplication syndromes
Region: ISCA-37478-GainChromosome 15q11q13 duplication syndrome
GRCh38 Position: 23513243-28312040
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)
Well established CNV.
Sources: Expert listCreated: 7 Dec 2020, 3:55 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Chromosome 15q11q13 duplication syndrome, MIM#608636; autism; intellectual disability; ataxia
Details
- ISCA ID
- ISCA-37478-Gain
- ISCA Region Name
- Chromosome 15q11q13 duplication syndrome
- Chromosome
- 15
- GRCh38 Coordinates
- 23513243-28312040
- 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, MIM#608636
- autism
- intellectual disability
- ataxia
- Tags
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Gain
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37478-gain has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37478-gain has been classified as Green List (High Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: ISCA-37478-Gain was added Region: ISCA-37478-Gain was added to Common deletion and duplication syndromes. Sources: Expert list SV/CNV tags were added to Region: ISCA-37478-Gain. Mode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for Region: ISCA-37478-Gain were set to Chromosome 15q11q13 duplication syndrome, MIM#608636; autism; intellectual disability; ataxia Review for Region: ISCA-37478-Gain was set to GREEN