Common deletion and duplication syndromes
Region: ISCA-37411-LossChromosome 15q13.3 microdeletion syndrome
GRCh38 Position: 30844901-32153207
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 80%
Variant types: CNV Loss
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established CNV, variable penetrance and expressivity. Individuals with homozygous deletions have neurodevelopmental problems, hypotonia, epileptic encephalopathy.
Sources: Expert listCreated: 30 Nov 2020, 8:52 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Chromosome 15q13.3 microdeletion syndrome, MIM# 612001; intellectual disability; epilepsy
Publications
Details
- ISCA ID
- ISCA-37411-Loss
- ISCA Region Name
- Chromosome 15q13.3 microdeletion syndrome
- Chromosome
- 15
- GRCh38 Coordinates
- 30844901-32153207
- Haploinsufficiency Score
- Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
- Triplosensitivity Score
- Required percent of overlap
- 80%
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Chromosome 15q13.3 microdeletion syndrome, MIM# 612001
- intellectual disability
- epilepsy
- Tags
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Loss
- Publications
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37411-loss has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: isca-37411-loss has been classified as Green List (High Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag SV/CNV tag was added to Region: ISCA-37411-Loss.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Region: ISCA-37411-Loss was added Region: ISCA-37411-Loss was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37411-Loss was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for Region: ISCA-37411-Loss were set to 19372089; 20979196 Phenotypes for Region: ISCA-37411-Loss were set to Chromosome 15q13.3 microdeletion syndrome, MIM# 612001; intellectual disability; epilepsy Review for Region: ISCA-37411-Loss was set to GREEN