Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel

Common deletion and duplication syndromes

Region: ISCA-37446-Loss

Chromosome 22q11.2 deletion syndrome, distal

Green List (high evidence)

Chromosome: 22
GRCh38 Position: 18924718-21111384
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)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Chromosome 22q11.2 deletion syndrome, distal MIM#611867; intellectual disability; autism; multiple congenital anomalies

Publications

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Established CNV

Usually de novo
All patients presented with characteristic facial dysmorphic features. A history of prematurity, prenatal and postnatal growth delay, developmental delay, and mild skeletal abnormalities was prevalent among the patients. Two patients were found to have a cardiovascular malformation, one had truncus arteriosus, and another had a bicuspid aortic valve.
Sources: Expert list
Created: 1 Dec 2020, 9:08 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Chromosome 22q11.2 deletion syndrome, distal MIM#611867

Publications

Details

ISCA ID
ISCA-37446-Loss
ISCA Region Name
Chromosome 22q11.2 deletion syndrome, distal
Chromosome
22
GRCh38 Coordinates
18924718-21111384
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
  • autism
  • multiple congenital anomalies
Tags
SV/CNV
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

1 Dec 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to Region: ISCA-37446-Loss.

1 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Region: isca-37446-loss has been classified as Green List (High Evidence).

1 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for Region: ISCA-37446-Loss were changed from Chromosome 22q11.2 deletion syndrome, distal MIM#611867 to Chromosome 22q11.2 deletion syndrome, distal MIM#611867; intellectual disability; autism; multiple congenital anomalies

1 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for Region: ISCA-37446-Loss were set to PMID: 18179902; 23765049

1 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Region: isca-37446-loss has been classified as Green List (High Evidence).

1 Dec 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Region: ISCA-37446-Loss was added Region: ISCA-37446-Loss was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37446-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37446-Loss were set to PMID: 18179902; 23765049 Phenotypes for Region: ISCA-37446-Loss were set to Chromosome 22q11.2 deletion syndrome, distal MIM#611867 Review for Region: ISCA-37446-Loss was set to GREEN