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Genetic epilepsy syndromes

Gene: EXT2

Amber List (moderate evidence)

EXT2 (exostosin glycosyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000151348
EnsemblGeneIds (GRCh37): ENSG00000151348
OMIM: 608210, Gene2Phenotype
EXT2 is in 15 panels

1 review

Rebecca Foulger (Genomics England curator)

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

History Filter Activity

25 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: ext2 has been classified as Amber List (Moderate Evidence).

21 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: ext2 has been classified as Green List (High Evidence).

21 Oct 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

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