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Adult onset neurodegenerative disorder

Region: ISCA-37478-Loss

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

No list
Chromosome: 15
GRCh38 Position: 23465365-28134728
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 60%
Variant types: CNV Loss

3 reviews

Ivone Leong (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, 12:22 p.m. | Last Modified: 16 Mar 2022, 12:22 p.m.
Panel Version: 2.268
Created: 16 Mar 2022, 12:22 p.m.
Last Modified: 16 Mar 2022, 12:22 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, 12:49 p.m.
Panel Version: 2.12
Created: 19 Aug 2020, 8:25 a.m.
Last Modified: 20 Aug 2020, 12:49 p.m.
Panel version: 2.8

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, 4:16 p.m. | Last Modified: 23 Jul 2019, 4:44 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, 1:31 p.m.
Created: 24 Apr 2019, 1:31 p.m.
Last Modified: 23 Jul 2019, 4:44 p.m.
Panel version: 1.74

Details

ISCA ID
ISCA-37478-Loss
ISCA Region Name
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss
Chromosome
15
GRCh38 Coordinates
23465365-28134728
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 Review Removed
  • NHS GMS
  • London North GLH
Phenotypes
  • 105830
  • Angelman syndrome
  • Developmental delay, muscle weakness
  • Mental retardation
  • 176270
  • microcephaly
  • Prader-Willi syndrome
Tags
curated_removed
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

16 Mar 2022, Gel status: 0

Changed GRCh38, Changed Required Overlap Percentage

Arina Puzriakova (Genomics England Curator)

GRCh38 position for ISCA-37478-Loss was changed from 23513243-28312040 to 23465365-28134728. Required Overlap Percentage for ISCA-37478-Loss was changed from 80 to 60.

1 Mar 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to Region: ISCA-37478-Loss.

19 Aug 2020, Gel status: 0

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Region: isca-37478-loss has been removed from the panel.

24 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

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

24 Apr 2019, Gel status: 4

Added New Source, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to Region: ISCA-37478-Loss. Added phenotypes 105830; Angelman syndrome; Developmental delay, muscle weakness; Mental retardation; 176270; microcephaly; Prader-Willi syndrome for Region: ISCA-37478-Loss

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-Loss was added Region: ISCA-37478-Loss was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37478-Loss were set to 7611294; 22045295 Phenotypes for Region: ISCA-37478-Loss were set to microcephaly; Developmental delay, muscle weakness; 176270; Angelman syndrome; Prader-Willi syndrome; 105830; Mental retardation