Common deletion and duplication syndromes
Region: ISCA-37423-Gain8p23.1 duplication syndrome
GRCh38 Position: 8261773-11908210
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. Duplication of GATA4 is thought to be responsible for the association with congenital heart disease.
Sources: Expert listCreated: 3 Dec 2020, 6:01 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
8p23.1 duplication syndrome; intellectual disability; congenital heart disease
Publications
Details
- ISCA ID
- ISCA-37423-Gain
- ISCA Region Name
- 8p23.1 duplication syndrome
- Chromosome
- 8
- GRCh38 Coordinates
- 8261773-11908210
- 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 list
- Phenotypes
-
- 8p23.1 duplication syndrome
- intellectual disability
- congenital heart disease
- Tags
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Gain
- Publications
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37423-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-37423-gain 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-37423-Gain was added Region: ISCA-37423-Gain was added to Common deletion and duplication syndromes. Sources: Expert list SV/CNV tags were added to Region: ISCA-37423-Gain. Mode of inheritance for Region: ISCA-37423-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37423-Gain were set to 26097203; 25520754 Phenotypes for Region: ISCA-37423-Gain were set to 8p23.1 duplication syndrome; intellectual disability; congenital heart disease Review for Region: ISCA-37423-Gain was set to GREEN