Genes in panel
Prev Next

Hereditary ataxia - 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)

CNV missing from original lists submitted by the GLHs from GMS Neurology Specialist Test Group. Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this CNV Green
Created: 1 Aug 2019, 1:47 p.m. | Last Modified: 1 Aug 2019, 1:47 p.m.
Panel Version: 1.183
This panel was initially created as a merge of genomic entities form the following Rare Disease 100K two panels : Hereditary ataxia v1.148 and Brain channelopathy v1.46.
This region (rated Green) comes from the Hereditary ataxia v1.148 panel and will need to discussed by the Neurology Test Group in July 2019.
Created: 19 Jun 2019, 11:04 a.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
  • Expert Review Green
Phenotypes
  • microcephaly
  • 176270
  • Mental retardation
  • Angelman syndrome
  • Prader-Willi syndrome
  • Developmental delay, muscle weakness
  • 105830
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

1 Aug 2019, Gel status: 3

Changed Triplosensitivity Score, Removed Source, Added New Source

Louise Daugherty (Genomics England Curator)

Triplosensitivity Score for ISCA-37478-Loss was changed from to None. Source Hereditary ataxia v1.148 was removed from Region: ISCA-37478-Loss. Source NHS GMS was added to Region: ISCA-37478-Loss.

9 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.

15 Dec 2018, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

Region: ISCA-37478-Loss was added Region: ISCA-37478-Loss was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,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; 176270; Mental retardation; Angelman syndrome; Prader-Willi syndrome; Developmental delay, muscle weakness; 105830