Severe early-onset obesity
Region: ISCA-37404-Loss15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
GRCh38 Position: 22782170-28134728
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 60%
Variant types: CNV Loss
2 reviews
Arina Puzriakova (Genomics England Curator)
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-Loss)
Checked and approved by the Genomics England Clinical team.Created: 12 Nov 2025, 2:33 p.m. | Last Modified: 12 Nov 2025, 4:02 p.m.
Panel Version: 5.18
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, 12:55 p.m. | Last Modified: 16 Mar 2022, 12:55 p.m.
Panel Version: 2.49
Ivone Leong (Genomics England Curator)
Review on behalf of Ismaa Farooqi (University of Cambridge): Rating: green. Do you report variants in this gene as part of your current diagnostic practice? Yes.Created: 15 Aug 2019, 2:21 p.m. | Last Modified: 15 Aug 2019, 2:21 p.m.
Panel Version: 1.22
Variants in this REGION are reported as part of current diagnostic practice
Details
- ISCA ID
- ISCA-37404-Loss
- ISCA Region Name
- 15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
- Chromosome
- 15
- GRCh38 Coordinates
- 22782170-28134728
- Haploinsufficiency Score
- Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
- Triplosensitivity Score
- Required percent of overlap
- 60%
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert list
- Expert Review Green
- ClinGen
- Phenotypes
-
- microcephaly
- Developmental delay, muscle weakness
- Mental retardation
- Angelman syndrome
- 176270
- Prader-Willi syndrome
- 105835
- Tags
- Clinvar variants
- Variants in
- Penetrance
- None
- Variant types
- CNV Loss
- Publications
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_25_demote_red tag was added to Region: ISCA-37404-Loss.
Changed GRCh38, Changed Triplosensitivity Score, Changed Required Overlap Percentage
Arina Puzriakova (Genomics England Curator)GRCh38 position for ISCA-37404-Loss was changed from 22782170-28134729 to 22782170-28134728. Triplosensitivity Score for ISCA-37404-Loss was changed from None to . Required Overlap Percentage for ISCA-37404-Loss was changed from 80 to 60.
Changed Triplosensitivity Score, Added New Source
Ivone Leong (Genomics England Curator)Triplosensitivity Score for ISCA-37404-Loss was changed from to None. Source Expert list was added to Region: ISCA-37404-Loss.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Louise Daugherty (Genomics England Curator)Region: ISCA-37404-Loss was added Region: ISCA-37404-Loss was added to Significant early-onset obesity +/- other endocrine features and short stature. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37404-Loss were set to 22045295; 7611294 Phenotypes for Region: ISCA-37404-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105835