Ataxia and cerebellar anomalies - narrow panel
Region: ISCA-37478-Gain15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain
GRCh38 Position: 23465365-28134728
Haploinsufficiency Score:
Triplosensitivity Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap: 60%
Variant types: CNV Gain
1 review
Eleanor Williams (Genomics England Curator)
The required percent of overlap for this region has been changed from 80% to 60% and the genomic location has been updated inline with ClinGen following NHS Genomic Medicine Service approval.Created: 16 Mar 2022, 1:23 p.m. | Last Modified: 16 Mar 2022, 1:23 p.m.
Panel Version: 2.289
Details
- ISCA ID
- ISCA-37478-Gain
- ISCA Region Name
- 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain
- Chromosome
- 15
- GRCh38 Coordinates
- 23465365-28134728
- Haploinsufficiency Score
- Triplosensitivity Score
- Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
- Required percent of overlap
- 60%
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems
- hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636
- chromosome 15q11-q13 duplication syndrome
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Gain
- Publications
History Filter Activity
Changed GRCh38, Changed Required Overlap Percentage
Arina Puzriakova (Genomics England Curator)GRCh38 position for ISCA-37478-Gain was changed from 23513243-28312040 to 23465365-28134728. Required Overlap Percentage for ISCA-37478-Gain was changed from 80 to 60.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)Region: ISCA-37478-Gain was added Region: ISCA-37478-Gain was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37478-Gain were set to 16840569; 9106540; 18374305 Phenotypes for Region: ISCA-37478-Gain were set to autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems; hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636; chromosome 15q11-q13 duplication syndrome