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Ataxia and cerebellar anomalies - narrow panel

Region: ISCA-37478-Loss

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

Green List (high evidence)
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

1 review

Eleanor Williams (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, 1:28 p.m. | Last Modified: 16 Mar 2022, 1:28 p.m.
Panel Version: 2.289
Created: 16 Mar 2022, 1:28 p.m.
Last Modified: 16 Mar 2022, 1:28 p.m.
Panel version: 2.289

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 Green
Phenotypes
  • microcephaly
  • Developmental delay, muscle weakness
  • 176270
  • Angelman syndrome
  • Prader-Willi syndrome
  • 105830
  • Mental retardation
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

16 Mar 2022, Gel status: 3

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.

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

19 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

Region: ISCA-37478-Loss was added Region: ISCA-37478-Loss was added to Ataxia and cerebellar anomalies - narrow panel. 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