Common deletion and duplication syndromes
Region: ISCA-37397-LossChromosome 22q11.2 deletion syndrome, distal, MIM#611867
GRCh38 Position: 21443089-23306926
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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established recurrent CNV, distinct from the proximal 22q11.2 deletion causing VCFS/DiGeorge syndrome.
Sources: Expert listCreated: 27 Nov 2020, 11:20 p.m. | Last Modified: 27 Nov 2020, 11:20 p.m.
Panel Version: 0.20
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Chromosome 22q11.2 deletion syndrome, distal, MIM#611867; intellectual disability; seizures; growth retardation; multiple congenital anomalies
Publications
Details
- ISCA ID
- ISCA-37397-Loss
- ISCA Region Name
- Chromosome 22q11.2 deletion syndrome, distal, MIM#611867
- Chromosome
- 22
- GRCh38 Coordinates
- 21443089-23306926
- 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 22q11.2 deletion syndrome, distal, MIM#611867
- intellectual disability
- seizures
- growth retardation
- multiple congenital anomalies
- Tags
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Loss
- Publications
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37397-loss has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37397-loss 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-37397-Loss was added Region: ISCA-37397-Loss was added to Common deletion and duplication syndromes. Sources: Expert list SV/CNV tags were added to Region: ISCA-37397-Loss. Mode of inheritance for Region: ISCA-37397-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37397-Loss were set to 21671380; 23765049; 18179902 Phenotypes for Region: ISCA-37397-Loss were set to Chromosome 22q11.2 deletion syndrome, distal, MIM#611867; intellectual disability; seizures; growth retardation; multiple congenital anomalies Review for Region: ISCA-37397-Loss was set to GREEN