Common deletion and duplication syndromes
Region: ISCA-37439-GainChromosome Xq28 duplication syndrome
GRCh38 Position: 154336276-154660745
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)
Established CNV
3 mothers, who were more mildly affected with learning difficulties, also carried the duplication with non-random X inactivation.
Causes mental retardation, both syndromic and non syndromic
Sources: Expert listCreated: 1 Dec 2020, 9:36 p.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: 20004760
Details
- ISCA ID
- ISCA-37439-Gain
- ISCA Region Name
- Chromosome Xq28 duplication syndrome
- Chromosome
- X
- GRCh38 Coordinates
- 154336276-154660745
- 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
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Gain
- Publications
-
- PMID: 20004760
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37439-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-37439-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-37439-Gain was added Region: ISCA-37439-Gain was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37439-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-37439-Gain were set to PMID: 20004760 Phenotypes for Region: ISCA-37439-Gain were set to Chromosome Xq28 duplication syndrome MIM#300815 Review for Region: ISCA-37439-Gain was set to GREEN