Common deletion and duplication syndromes
Region: ISCA-37433-LossDiGeorge syndrome
Chromosome: 22
GRCh38 Position: 18924718-20299686
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 80%
Variant types: CNV Loss
GRCh38 Position: 18924718-20299686
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 80%
Variant types: CNV Loss
1 review
Elena Savva (Victorian Clinical Genetics Services)
Established CNV
Sources: Expert listCreated: 7 Dec 2020, 4:53 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
DiGeorge syndrome MIM#188400
Details
- ISCA ID
- ISCA-37433-Loss
- ISCA Region Name
- DiGeorge syndrome
- Chromosome
- 22
- GRCh38 Coordinates
- 18924718-20299686
- 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, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- DiGeorge syndrome MIM#188400
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Loss
History Filter Activity
7 Dec 2020, Gel status: 3
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Region: isca-37433-loss has been classified as Green List (High Evidence).
7 Dec 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)Region: ISCA-37433-Loss was added Region: ISCA-37433-Loss was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37433-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37433-Loss were set to DiGeorge syndrome MIM#188400 Review for Region: ISCA-37433-Loss was set to GREEN