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Genetic epilepsy syndromes

Region: ISCA-37429-Loss

4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss

Green List (high evidence)

Chromosome: 4
GRCh38 Position: 337779-2009235
Haploinsufficiency Score: Sufficient evidence suggesting dosage sensitivity is associated with clinical phenotype
Triplosensitivity Score:
Required percent of overlap: 80%
Variant types: CNV Loss

2 reviews

alisdair mcneill (Sheffield childrens hospital)

Green List (high evidence)

90% of people with WHS develop epilepsy, multiple case series to demonstrate this
Created: 7 Oct 2019, 2:18 p.m. | Last Modified: 7 Oct 2019, 2:18 p.m.
Panel Version: 1.352

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Rebecca Foulger (Genomics England curator)

The Green rating by Alisdair McNeill (Sheffield Children's Hospital, Yorkshire and North East GLH) supports the current Green rating of ISCA-37429-Loss CNV.
Created: 8 Oct 2019, 9:48 a.m. | Last Modified: 8 Oct 2019, 9:51 a.m.
Panel Version: 1.353
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor. Suggested rating: Green.
Created: 15 Aug 2019, 2:42 p.m. | Last Modified: 15 Aug 2019, 2:42 p.m.
Panel Version: 1.239

Details

ISCA ID
ISCA-37429-Loss
ISCA Region Name
4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss
Chromosome
4
GRCh38 Coordinates
337779-2009235
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
Phenotypes
  • 194190
  • Wolf-Hirschhorn syndrome
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

8 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Region: isca-37429-loss has been classified as Green List (High Evidence).

15 Aug 2019, Gel status: 3

Changed Triplosensitivity Score, Added New Source

Rebecca Foulger (Genomics England curator)

Triplosensitivity Score for ISCA-37429-Loss was changed from to None. Source NHS GMS was added to Region: ISCA-37429-Loss.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

11th December 2018 After extensive review and curation the Genetic epilepsy sydrome panel is ready to be promoted to Version 1.

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-37429-Loss was added Region: ISCA-37429-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37429-Loss were set to 20026556; 14630905 Phenotypes for Region: ISCA-37429-Loss were set to 194190; Wolf-Hirschhorn syndrome