Common deletion and duplication syndromes
Region: ISCA-37415-Gain16p13.11 microduplication syndrome
GRCh38 Position: 15410597-16198411
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)
16p13.11 are associated with DD/ID/autism. Duplication contains MYH11, and there is also evidence of association with aortopathy.
Sources: Expert listCreated: 30 Nov 2020, 9:03 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
16p13.11 microduplication syndrome; intellectual disability; autism; aortopathy
Publications
Details
- ISCA ID
- ISCA-37415-Gain
- ISCA Region Name
- 16p13.11 microduplication syndrome
- Chromosome
- 16
- GRCh38 Coordinates
- 15410597-16198411
- 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
-
- 16p13.11 microduplication syndrome
- intellectual disability
- autism
- aortopathy
- Tags
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Gain
- Publications
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37415-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-37415-gain has been classified as Green List (High Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: ISCA-37415-Gain was added Region: ISCA-37415-Gain was added to Common deletion and duplication syndromes. Sources: Expert list SV/CNV tags were added to Region: ISCA-37415-Gain. Mode of inheritance for Region: ISCA-37415-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37415-Gain were set to 30287593 Phenotypes for Region: ISCA-37415-Gain were set to 16p13.11 microduplication syndrome; intellectual disability; autism; aortopathy Review for Region: ISCA-37415-Gain was set to GREEN