Common deletion and duplication syndromes
Region: ISCA-37486-LossChromosome 16p11.2 deletion syndrome
GRCh38 Position: 28811313-29035181
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 80%
Variant types: CNV Loss
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Chromosome 16p11.2 deletion syndrome MIM#611913, distal BP2-BP3; intellectual disability; autism; obesity
Publications
Elena Savva (Victorian Clinical Genetics Services)
Established CNV
The most common clinical manifestations in 17 deletion and 10 duplication subjects were speech/language delay and cognitive impairment. Other phenotypes in the deletion patients included motor delay (50%), seizures ( approximately 40%), behavioural problems ( approximately 40%), congenital anomalies ( approximately 30%), and autism ( approximately 20%)
One subject with the deletion was asymptomatic
Sources: Expert listCreated: 1 Dec 2020, 5:30 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Chromosome 16p11.2 deletion syndrome, 593kb MIM#611913
Publications
- PMID: 19914906
Details
- ISCA ID
- ISCA-37486-Loss
- ISCA Region Name
- Chromosome 16p11.2 deletion syndrome
- Chromosome
- 16
- GRCh38 Coordinates
- 28811313-29035181
- 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 list
- Phenotypes
-
- Chromosome 16p11.2 deletion syndrome, MIM#611913, distal BP2-BP3
- intellectual disability
- autism
- obesity
- Tags
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Loss
- Publications
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for Region: ISCA-37486-Loss were changed from Chromosome 16p11.2 deletion syndrome, 593kb MIM#611913, distal BP2-BP3; intellectual disability; autism; obesity to Chromosome 16p11.2 deletion syndrome, MIM#611913, distal BP2-BP3; intellectual disability; autism; obesity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag SV/CNV tag was added to Region: ISCA-37486-Loss.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37486-loss has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for Region: ISCA-37486-Loss were changed from Chromosome 16p11.2 deletion syndrome, 593kb MIM#611913 to Chromosome 16p11.2 deletion syndrome, 593kb MIM#611913, distal BP2-BP3; intellectual disability; autism; obesity
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for Region: ISCA-37486-Loss were set to PMID: 19914906
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37486-loss has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)Region: ISCA-37486-Loss was added Region: ISCA-37486-Loss was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37486-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37486-Loss were set to PMID: 19914906 Phenotypes for Region: ISCA-37486-Loss were set to Chromosome 16p11.2 deletion syndrome, 593kb MIM#611913 Review for Region: ISCA-37486-Loss was set to GREEN