Adult onset neurodegenerative disorder
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
3 reviews
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, 1:27 p.m. | Last Modified: 16 Mar 2022, 1:27 p.m.
Panel Version: 2.268
Arina Puzriakova (Genomics England Curator)
Comment on list classification: This region has been removed from the panel at the request of NHS England following discussion at a Rare Disease workshop. Removed as testing for this region is not achievable using currently available methodology.Created: 19 Aug 2020, 8:25 a.m. | Last Modified: 20 Aug 2020, 12:50 p.m.
Panel Version: 2.12
Louise Daugherty (Genomics England Curator)
No rating for CNV region submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': NoCreated: 23 Jul 2019, 4:15 p.m. | Last Modified: 23 Jul 2019, 4:45 p.m.
Panel Version: 1.75
Red rating for CNV region submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.Created: 24 Apr 2019, 1:30 p.m.
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 Removed
- NHS GMS
- London North GLH
- 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
- Tags
- 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.
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to Region: ISCA-37478-Gain.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Region: isca-37478-gain has been removed from the panel.
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to Region: ISCA-37478-Gain.
Added New Source, Set publications
Louise Daugherty (Genomics England Curator)Source London North GLH was added to Region: ISCA-37478-Gain. Publications for Region: ISCA-37478-Gain were changed from 16840569; 9106540; 18374305 to 18374305; 9106540; 16840569
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked panel against panel constituents. Ready to promote to version 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)Region: ISCA-37478-Gain was added Region: ISCA-37478-Gain was added to Neurodegenerative disorders - adult onset. 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