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  3. ISCA-46295-Loss
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Early onset or syndromic epilepsy

Region: ISCA-46295-Loss

15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) Loss

Green List (high evidence)
Chromosome: 15
GRCh38 Position: 31727418-32153204
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

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, 12:24 p.m. | Last Modified: 16 Mar 2022, 12:24 p.m.
Panel Version: 2.500
Created: 16 Mar 2022, 12:24 p.m.
Last Modified: 16 Mar 2022, 12:24 p.m.
Panel version: 2.500

Rebecca Foulger (Genomics England curator)

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, 2:45 p.m. | Last Modified: 15 Aug 2019, 2:45 p.m.
Panel Version: 1.239
Created: 15 Aug 2019, 2:45 p.m.
Last Modified: 15 Aug 2019, 2:45 p.m.
Panel version: 1.239

Details

ISCA ID
ISCA-46295-Loss
ISCA Region Name
15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) Loss
Chromosome
15
GRCh38 Coordinates
31727418-32153204
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
  • Expert Review Green
  • ClinGen
Phenotypes
  • seizures
  • 20236110
  • mental retardation
  • 22775350
  • dysmorphic features
  • developmental delay
  • severe epileptic encephalopathy
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

16 Mar 2022, Gel status: 3

Changed GRCh38, Changed Triplosensitivity Score, Changed Required Overlap Percentage

Arina Puzriakova (Genomics England Curator)

GRCh38 position for ISCA-46295-Loss was changed from 31727418-32153205 to 31727418-32153204. Triplosensitivity Score for ISCA-46295-Loss was changed from None to . Required Overlap Percentage for ISCA-46295-Loss was changed from 80 to 60.

15 Aug 2019, Gel status: 3

Changed Triplosensitivity Score, Added New Source

Rebecca Foulger (Genomics England curator)

Triplosensitivity Score for ISCA-46295-Loss was changed from to None. Source NHS GMS was added to Region: ISCA-46295-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-46295-Loss was added Region: ISCA-46295-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-46295-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-46295-Loss were set to 19898479; 20236110; 22775350 Phenotypes for Region: ISCA-46295-Loss were set to seizures; 20236110; mental retardation; 22775350; dysmorphic features; developmental delay; severe epileptic encephalopathy