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Intellectual disability

Region: ISCA-37404-Gain

15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Gain

Green List (high evidence)
Chromosome: 15
GRCh38 Position: 22782170-28134728
Haploinsufficiency Score:
Triplosensitivity Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Required percent of overlap: 60%
Variant types: CNV Gain

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: This region has been deprecated by ClinGen and therefore should be removed from the panel.

This region has been subsumed into ISCA-37478 which is green on multiple GMS panels including this panel (https://panelapp.genomicsengland.co.uk/panels/entities/ISCA-37478-Gain)

Checked and approved by the Genomics England Clinical team.
Created: 12 Nov 2025, 4:02 p.m. | Last Modified: 12 Nov 2025, 4:02 p.m.
Panel Version: 9.175
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, 12:52 p.m. | Last Modified: 16 Mar 2022, 12:52 p.m.
Panel Version: 3.1520
Created: 16 Mar 2022, 12:52 p.m.
Last Modified: 16 Mar 2022, 12:52 p.m.
Panel version: 3.1520

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: minor amendment to type in phenotype
Created: 10 Sep 2018, 3:17 p.m.
Created: 10 Sep 2018, 3:17 p.m.

Panel version: 2.401

Details

ISCA ID
ISCA-37404-Gain
ISCA Region Name
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Gain
Chromosome
15
GRCh38 Coordinates
22782170-28134728
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
  • ClinGen
Phenotypes
  • chromosome 15q11-q13 duplication syndrome
  • include autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems
  • 608636
  • delayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected
Tags
Q3_25_demote_red
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Gain
Publications

History Filter Activity

12 Nov 2025, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Region: isca-37404-gain has been classified as Green List (High Evidence).

12 Nov 2025, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_25_demote_red tag was added to Region: ISCA-37404-Gain.

16 Mar 2022, Gel status: 3

Changed GRCh38, Changed Required Overlap Percentage

Arina Puzriakova (Genomics England Curator)

GRCh38 position for ISCA-37404-Gain was changed from 22782170-28134729 to 22782170-28134728. Required Overlap Percentage for ISCA-37404-Gain was changed from 80 to 60.

10 Sep 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for Region: ISCA-37404-Gain were changed from chromosome 15q11-q13 duplication syndrome; include autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems; 608636; elayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected to chromosome 15q11-q13 duplication syndrome; include autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems; 608636; delayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected

7 Sep 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Region: ISCA-37404-Gain was added Region: ISCA-37404-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37404-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37404-Gain were set to 18374305; 16840569; 9106540 Phenotypes for Region: ISCA-37404-Gain were set to chromosome 15q11-q13 duplication syndrome; include autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems; 608636; elayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected