Early onset or syndromic epilepsy
Gene: EXT2

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

4 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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

Created: 11 Oct 2023, 11:59 a.m.
Last Modified: 11 Oct 2023, 11:59 a.m.
Panel version: 4.110

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

Created: 28 Feb 2023, 11:18 a.m.
Last Modified: 28 Feb 2023, 11:18 a.m.
Panel version: 3.83

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Created: 22 Jan 2020, 7:36 a.m.
Last Modified: 22 Jan 2020, 7:36 a.m.
Panel version: 2.238

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

Created: 21 Oct 2019, 2:19 p.m.
Last Modified: 24 Oct 2019, 12:50 p.m.
Panel version: 1.463

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS
Literature

Phenotypes

Seizures, scoliosis, and macrocephaly syndrome, OMIM:616682
seizures-scoliosis-macrocephaly syndrome, MONDO:0014731

OMIM

608210

Clinvar variants

Variants in EXT2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

11 Oct 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_23_promote_green was removed from gene: EXT2.

11 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

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)

28 Feb 2023, Gel status: 2