Genetic epilepsy syndromesGene: EXT2
The majority of reported individuals appear to have developed significant seizures in the first few years of life.
Created: 22 Jan 2020, 7:36 a.m. | Last Modified: 22 Jan 2020, 7:36 a.m.
Panel Version: 2.0
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Seizures, scoliosis, and macrocephaly syndrome, MIM# 616682
Variants in this GENE are reported as part of current diagnostic practice
As discussed with members of the GMS Neurology Specialist Test Group on the Webex call 22nd November 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is insufficient evidence to rate this gene Green. Seizures not a presenting feature. Demoted from Green to Amber.
Created: 25 Nov 2019, 9:12 p.m. | Last Modified: 25 Nov 2019, 9:12 p.m.
Panel Version: 1.463
Comment on list classification: Added EXT2 to panel based on epilepsy/seizure phenotype on the 'Inborn errors of metabolism' panel. Relevant phenotype (MIM:616682) and sufficient cases of patients with seizures for inclusion on the panel: (PMIDs 26246518, 30075207, 30997052, 30288735).
Created: 21 Oct 2019, 2:19 p.m. | Last Modified: 24 Oct 2019, 12:50 p.m.
Panel Version: 1.383
Gene: ext2 has been classified as Amber List (Moderate Evidence).
Gene: ext2 has been classified as Green List (High Evidence).
gene: EXT2 was added gene: EXT2 was added to Genetic epilepsy syndromes. Sources: Literature,Expert Review Green Mode of inheritance for gene: EXT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXT2 were set to 26246518; 30997052; 30288735; 30075207 Phenotypes for gene: EXT2 were set to Seizures, scoliosis, and macrocephaly syndrome, 616682