Common deletion and duplication syndromes
Region: ISCA-37494-GainChromosome Xq28 duplication syndrome
GRCh38 Position: 154890328-155335092
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)
Well established CNV, includes MECP2. Severe disorder in males, variable features in females.Created: 1 Dec 2020, 10:17 a.m. | Last Modified: 1 Dec 2020, 10:17 a.m.
Panel Version: 0.62
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Chromosome Xq28 duplication syndrome MIM#300815; intellectual disability; hypotonia; seizures; spasticity; recurrent respiratory infections
Publications
Elena Savva (Victorian Clinical Genetics Services)
Established CNV
This syndrome has recently been described in 9 males with cognitive impairment, behavioral problems, and distinctive facial features; and 6 females with milder phenotypes.
Prenatally diagnosed de novo int22h1/int22h2-mediated deletion in a healthy female infant.
Sources: Expert listCreated: 1 Dec 2020, 5:20 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Chromosome Xq28 duplication syndrome MIM#300815
Publications
- PMID: 25927380
Details
- ISCA ID
- ISCA-37494-Gain
- ISCA Region Name
- Chromosome Xq28 duplication syndrome
- Chromosome
- X
- GRCh38 Coordinates
- 154890328-155335092
- 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, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Chromosome Xq28 duplication syndrome MIM#300815
- intellectual disability
- hypotonia
- seizures
- spasticity
- recurrent respiratory infections
- 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-37494-gain has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for Region: ISCA-37494-Gain were changed from Chromosome Xq28 duplication syndrome MIM#300815 to Chromosome Xq28 duplication syndrome MIM#300815; intellectual disability; hypotonia; seizures; spasticity; recurrent respiratory infections
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for Region: ISCA-37494-Gain were set to PMID: 25927380
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37494-gain has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)Region: ISCA-37494-Gain was added Region: ISCA-37494-Gain was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37494-Gain was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for Region: ISCA-37494-Gain were set to PMID: 25927380 Phenotypes for Region: ISCA-37494-Gain were set to Chromosome Xq28 duplication syndrome MIM#300815 Review for Region: ISCA-37494-Gain was set to GREEN