Common deletion and duplication syndromes
Region: ISCA-37393-GainCat eye syndrome, 22q11.21 tetrasomy syndrome
GRCh38 Position: 16912063-18109094
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)
Well established CNV.
Sources: Expert ReviewCreated: 27 Nov 2020, 9:55 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cat eye syndrome, MIM# 115470; coloboma; anal atresia; heart and renal malformations
Details
- ISCA ID
- ISCA-37393-Gain
- ISCA Region Name
- Cat eye syndrome, 22q11.21 tetrasomy syndrome
- Chromosome
- 22
- GRCh38 Coordinates
- 16912063-18109094
- 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 Review
- Phenotypes
-
- Cat eye syndrome, MIM# 115470
- coloboma
- anal atresia
- heart and renal malformations
- Tags
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Gain
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37393-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-37393-gain has been classified as Green List (High Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: ISCA-37393-Gain was added Region: ISCA-37393-Gain was added to Common deletion and duplication syndromes. Sources: Expert Review SV/CNV tags were added to Region: ISCA-37393-Gain. Mode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for Region: ISCA-37393-Gain were set to Cat eye syndrome, MIM# 115470; coloboma; anal atresia; heart and renal malformations Review for Region: ISCA-37393-Gain was set to GREEN