Common deletion and duplication syndromes
Region: ISCA-37446-GainChromosome 22q11.2 microduplication syndrome
GRCh38 Position: 18924718-21111384
Haploinsufficiency Score:
Triplosensitivity Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap: 80%
Variant types: CNV Gain
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Chromosome 22q11.2 microduplication syndrome MIM#608363, proximal A-D
Elena Savva (Victorian Clinical Genetics Services)
Established CNV
Extremely variable disorder with a phenotype ranging from normal to learning disability and congenital defects.
Both de novo and familial reports
Sources: Expert listCreated: 1 Dec 2020, 9:16 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Chromosome 22q11.2 microduplication syndrome MIM#608363
Publications
- PMID: 18707033
Details
- ISCA ID
- ISCA-37446-Gain
- ISCA Region Name
- Chromosome 22q11.2 microduplication syndrome
- Chromosome
- 22
- GRCh38 Coordinates
- 18924718-21111384
- 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, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Chromosome 22q11.2 microduplication syndrome MIM#608363, proximal A-D
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Gain
- Publications
-
- PMID: 18707033
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37446-gain has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for Region: ISCA-37446-Gain were changed from Chromosome 22q11.2 microduplication syndrome MIM#608363 to Chromosome 22q11.2 microduplication syndrome MIM#608363, proximal A-D
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37446-gain 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-37446-Gain was added Region: ISCA-37446-Gain was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37446-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37446-Gain were set to PMID: 18707033 Phenotypes for Region: ISCA-37446-Gain were set to Chromosome 22q11.2 microduplication syndrome MIM#608363 Review for Region: ISCA-37446-Gain was set to GREEN