Common deletion and duplication syndromes
Region: ISCA-37432-GainChromosome 17q12 duplication syndrome
GRCh38 Position: 36458167-37854617
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
Cognitive impairment, cystic renal disease, seizures, and structural abnormalities of the brain.
OMIM notes healthy carriers with minor behavioural issues have been reported
Sources: Expert listCreated: 6 Dec 2020, 9:22 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Chromosome 17q12 duplication syndrome 614526
Publications
- PMID: 19844256
Details
- ISCA ID
- ISCA-37432-Gain
- ISCA Region Name
- Chromosome 17q12 duplication syndrome
- Chromosome
- 17
- GRCh38 Coordinates
- 36458167-37854617
- 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, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Chromosome 17q12 duplication syndrome 614526
- intellectual disability
- seizures
- congenital anomalies
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Gain
- Publications
-
- PMID: 19844256
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37432-gain has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for Region: ISCA-37432-Gain were changed from Chromosome 17q12 duplication syndrome 614526 to Chromosome 17q12 duplication syndrome 614526; intellectual disability; seizures; congenital anomalies
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37432-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-37432-Gain was added Region: ISCA-37432-Gain was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37432-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37432-Gain were set to PMID: 19844256 Phenotypes for Region: ISCA-37432-Gain were set to Chromosome 17q12 duplication syndrome 614526 Review for Region: ISCA-37432-Gain was set to GREEN