Genes in panel
Prev Next

Neurodegenerative disorders - adult onset

Region: ISCA-37478-Gain

15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain

Green List (high evidence)

Chromosome: 15
GRCh38 Position: 23513243-28312040
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

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

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?': No
Created: 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
23513243-28312040
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
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

24 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to Region: ISCA-37478-Gain.

24 Apr 2019, Gel status: 4

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

25 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked panel against panel constituents. Ready to promote to version 1

18 Dec 2018, Gel status: 4

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