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  3. ISCA-46290-Gain
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Common deletion and duplication syndromes

Region: ISCA-46290-Gain

Chromosome Xp11.23-p11.22 duplication syndrome

Green List (high evidence)
Chromosome: X
GRCh38 Position: 48447780-52444265
Haploinsufficiency Score:
Triplosensitivity Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap: 80%
Variant types: CNV Gain

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Phenotypes
Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801; intellectual disability; seizures

Publications

Created: 1 Dec 2020, 6:41 a.m.
Last Modified: 1 Dec 2020, 6:41 a.m.
Panel version: 0.53

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Males and females affected - Most affected females show preferential activation of the duplicated X chromosome.
Sources: Expert list
Created: 1 Dec 2020, 4:57 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801

Publications

Created: 1 Dec 2020, 4:57 a.m.

Panel version: 0.45

Details

ISCA ID
ISCA-46290-Gain
ISCA Region Name
Chromosome Xp11.23-p11.22 duplication syndrome
Chromosome
X
GRCh38 Coordinates
48447780-52444265
Haploinsufficiency Score
Triplosensitivity Score
Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap
80%
Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801
  • intellectual disability
  • seizures
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Gain
Publications

History Filter Activity

1 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Region: isca-46290-gain 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-46290-Gain were changed from Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801 to Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801; intellectual disability; seizures

1 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for Region: ISCA-46290-Gain were set to PMID: 19716111

1 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Region: isca-46290-gain 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-46290-Gain was added Region: ISCA-46290-Gain was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-46290-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for Region: ISCA-46290-Gain were set to PMID: 19716111 Phenotypes for Region: ISCA-46290-Gain were set to Chromosome Xp11.23-p11.22 duplication syndrome MIM#300801 Review for Region: ISCA-46290-Gain was set to GREEN