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Hereditary ataxia

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

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, 12:21 p.m. | Last Modified: 16 Mar 2022, 12:21 p.m.
Panel Version: 1.299
Created: 16 Mar 2022, 12:21 p.m.
Last Modified: 16 Mar 2022, 12:21 p.m.
Panel version: 1.299

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
  • ClinGen
Phenotypes
  • microcephaly
  • Developmental delay, muscle weakness
  • Mental retardation
  • Angelman syndrome
  • 176270
  • Prader-Willi syndrome
  • 105830
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.

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-37478-Loss was added Region: ISCA-37478-Loss was added to Hereditary ataxia. Sources: ClinGen,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 22045295; 7611294 Phenotypes for Region: ISCA-37478-Loss were set to microcephaly; Developmental delay, muscle weakness; Mental retardation; Angelman syndrome; 176270; Prader-Willi syndrome; 105830