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Neurodegenerative disorders - adult onset

Region: ISCA-37478-Loss

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

Green List (high evidence)

Chromosome: 15
GRCh38 Position: 23513243-28312040
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 80%
Variant types: CNV Loss

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, 4:16 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.

Details

ISCA ID
ISCA-37478-Loss
ISCA Region Name
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss
Chromosome
15
GRCh38 Coordinates
23513243-28312040
Haploinsufficiency Score
Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score
Required percent of overlap
80%
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • London North GLH
  • Expert Review Green
Phenotypes
  • 105830
  • Angelman syndrome
  • Developmental delay, muscle weakness
  • Mental retardation
  • 176270
  • microcephaly
  • Prader-Willi syndrome
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
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-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