Genes in panel
Prev Next
STRs in panel
Prev Next

Genetic epilepsy syndromes

Region: ISCA-37493-Loss

1q43q44 terminal region (includes AKT3) Loss

Green List (high evidence)

Chromosome: 1
GRCh38 Position: 243124428-245154985
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

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. Evidence for inclusion: PMID:28283832. Review Comment: Depienne et al state, demonstrates that AKT3 haploinsufficiency is the main driver for microcephaly, whereas HNRNPU alteration mostly drives epilepsy and determines the degree of intellectual disability.
Created: 15 Aug 2019, 2:44 p.m. | Last Modified: 15 Aug 2019, 2:44 p.m.
Panel Version: 1.239

Publications

Details

ISCA ID
ISCA-37493-Loss
ISCA Region Name
1q43q44 terminal region (includes AKT3) Loss
Chromosome
1
GRCh38 Coordinates
243124428-245154985
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
  • ClinGen
Phenotypes
  • microcephaly
  • seizures
  • agenesis of the corpus callosum
  • intellectual disability
  • hand and foot anomalies
  • 612337
  • non-specific craniofacial anomalies
  • hypoplasia
  • psychomotor retardation
  • hypogenesis of the corpus callosum
Clinvar variants
Variants in
Penetrance
None
Variant types
CNV Loss
Publications

History Filter Activity

15 Aug 2019, Gel status: 3

Changed Triplosensitivity Score, Added New Source

Rebecca Foulger (Genomics England curator)

Triplosensitivity Score for ISCA-37493-Loss was changed from to None. Source NHS GMS was added to Region: ISCA-37493-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-37493-Loss was added Region: ISCA-37493-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37493-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37493-Loss were set to 21800092; 17603806; 22678713 Phenotypes for Region: ISCA-37493-Loss were set to microcephaly; seizures; agenesis of the corpus callosum; intellectual disability; hand and foot anomalies; 612337; non-specific craniofacial anomalies; hypoplasia; psychomotor retardation; hypogenesis of the corpus callosum