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Common deletion and duplication syndromes
Region: ISCA-37392-Gain
7q11.23 duplication syndrome

Chromosome: 7
GRCh38 Position: 73330451-74728175
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)

Green List (high evidence)

Well established recurrent CNV.
Sources: Expert Review
Created: 27 Nov 2020, 9:42 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Chromosome 7q11.23 duplication syndrome, MIM# 609757; intellectual disability; hypotonia; macrocephaly; seizures; aortic dilatation

Publications

Created: 27 Nov 2020, 9:42 a.m.

Panel version: 0.13

Details

ISCA ID

ISCA-37392-Gain

ISCA Region Name

7q11.23 duplication syndrome

Chromosome

7

GRCh38 Coordinates

73330451-74728175

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

Chromosome 7q11.23 duplication syndrome, MIM# 609757
intellectual disability
hypotonia
macrocephaly
seizures
aortic dilatation

Tags

SV/CNV

Clinvar variants

Variants in

Penetrance

None

Variant types

CNV Gain

Publications

History Filter Activity

27 Nov 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for Region: ISCA-37392-Gain were changed from 7q11.23 duplication syndrome; intellectual disability; hypotonia; macrocephaly; seizures; aortic dilatation to Chromosome 7q11.23 duplication syndrome, MIM# 609757; intellectual disability; hypotonia; macrocephaly; seizures; aortic dilatation

27 Nov 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to Region: ISCA-37392-Gain.

27 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Region: isca-37392-gain has been classified as Green List (High Evidence).

27 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Region: isca-37392-gain has been classified as Green List (High Evidence).

27 Nov 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Region: ISCA-37392-Gain was added Region: ISCA-37392-Gain was added to Common deletion and duplication syndromes. Sources: Expert Review Mode of inheritance for Region: ISCA-37392-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37392-Gain were set to 33187326; 27615053; 26610320 Phenotypes for Region: ISCA-37392-Gain were set to 7q11.23 duplication syndrome; intellectual disability; hypotonia; macrocephaly; seizures; aortic dilatation Review for Region: ISCA-37392-Gain was set to GREEN