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Hereditary ataxia - adult onset

Region: ISCA-37404-Loss

15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss

Green List (high evidence)

Chromosome: 15
GRCh38 Position: 22782170-28134728
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 60%
Variant types: CNV Loss

2 reviews

Arina Puzriakova (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, 12:54 p.m. | Last Modified: 16 Mar 2022, 12:54 p.m.
Panel Version: 2.148

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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: 5 Aug 2019, 2:20 p.m. | Last Modified: 5 Aug 2019, 2:20 p.m.
Panel Version: 1.194
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.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of GMS Neurology specialist test group. Comment: Angelman is associated with ataxia, PWS has motor coordination difficulties (Other PWS/AS deletions also appropriate). Do you report variants in this gene as part of your current diagnostic practice? No.
Created: 14 Apr 2019, 4:04 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Angelman syndrome (OMIM 105830) and Prader-Willi syndrome (OMIM 176270)

Details

ISCA ID
ISCA-37404-Loss
ISCA Region Name
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
Chromosome
15
GRCh38 Coordinates
22782170-28134728
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
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Hereditary ataxia v1.148
Phenotypes
  • 105831
  • 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

16 Mar 2022, Gel status: 3

Changed GRCh38, Changed Required Overlap Percentage

Arina Puzriakova (Genomics England Curator)

GRCh38 position for ISCA-37404-Loss was changed from 22782170-28134729 to 22782170-28134728. Required Overlap Percentage for ISCA-37404-Loss was changed from 80 to 60.

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to Region: ISCA-37404-Loss.

14 Apr 2019, Gel status: 4

Added New Source, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to Region: ISCA-37404-Loss. Added phenotypes 105831; Angelman syndrome; Developmental delay, muscle weakness; Mental retardation; 176270; microcephaly; Prader-Willi syndrome for Region: ISCA-37404-Loss Publications for Region: ISCA-37404-Loss were changed from 22045295; 7611294 to 7611294; 22045295

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-37404-Loss was added Region: ISCA-37404-Loss was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37404-Loss were set to 22045295; 7611294 Phenotypes for Region: ISCA-37404-Loss were set to microcephaly; 176270; Mental retardation; Angelman syndrome; Prader-Willi syndrome; Developmental delay, muscle weakness; 105831