Early onset or syndromic epilepsy
Gene: EXT2
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 11:59 a.m. | Last Modified: 11 Oct 2023, 11:59 a.m.
Panel Version: 4.110
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Associated Seizures, scoliosis, and macrocephaly syndrome in OMIM, but not associated with an equivalent phenotype in Gen2Phen. Six EXT2 variants have been reported four unrelated cases (PMID:26246518; 30288735; 30997052; 30075207).Created: 28 Feb 2023, 11:26 a.m. | Last Modified: 28 Feb 2023, 11:26 a.m.
Panel Version: 3.83
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 28 Feb 2023, 11:18 a.m. | Last Modified: 28 Feb 2023, 11:18 a.m.
Panel Version: 3.83
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
Phenotypes
Seizures, scoliosis, and macrocephaly syndrome, MIM# 616682
Publications
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
Tag Q1_23_promote_green was removed from gene: EXT2.
Source NHS GMS was added to EXT2. Source Expert Review Green was added to EXT2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q1_23_promote_green tag was added to gene: EXT2.
Gene: ext2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: EXT2 were changed from Seizures, scoliosis, and macrocephaly syndrome, 616682 to Seizures, scoliosis, and macrocephaly syndrome, OMIM:616682; seizures-scoliosis-macrocephaly syndrome, MONDO:0014731
Publications for gene: EXT2 were set to 26246518; 30997052; 30288735; 30075207; 30806661
Publications for gene: EXT2 were set to 26246518; 30997052; 30288735; 30075207
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