Common deletion and duplication syndromes
Region: ISCA-46299-GainXp11.22 microduplication syndrome
GRCh38 Position: 53334251-53766556
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
Elena Savva (Victorian Clinical Genetics Services)
Well known CNV
Sources: Expert listCreated: 30 Nov 2020, 5:02 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
Xp11.22 microduplication syndrome MIM#300705
Publications
- PMID: 22840365
Details
- ISCA ID
- ISCA-46299-Gain
- ISCA Region Name
- Xp11.22 microduplication syndrome
- Chromosome
- X
- GRCh38 Coordinates
- 53334251-53766556
- 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
-
- Xp11.22 microduplication syndrome MIM#300705
- Tags
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Gain
- Publications
-
- PMID: 22840365
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag SV/CNV tag was added to Region: ISCA-46299-Gain.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-46299-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-46299-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-46299-Gain was added Region: ISCA-46299-Gain was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-46299-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-46299-Gain were set to PMID: 22840365 Phenotypes for Region: ISCA-46299-Gain were set to Xp11.22 microduplication syndrome MIM#300705 Review for Region: ISCA-46299-Gain was set to GREEN