Congenital disorders of glycosylation
Gene: EXT2

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

3 reviews

Rebecca Foulger (Genomics England curator)

GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q93063-1
Created: 9 Jan 2020, 2:32 p.m. | Last Modified: 9 Jan 2020, 2:32 p.m.

Panel Version: 2.0

Created: 9 Jan 2020, 2:32 p.m.
Last Modified: 9 Jan 2020, 2:32 p.m.
Panel version: 2.0

Sarah Leigh (Genomics England Curator)

GlyGen link updated April 2021: https://www.glygen.org/protein/Q93063-1#Disease
Created: 8 Apr 2021, 12:23 p.m. | Last Modified: 8 Apr 2021, 12:23 p.m.

Panel Version: 2.66

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 7 variants reported.
Created: 15 Dec 2016, 4:59 p.m.

Created: 15 Dec 2016, 4:59 p.m.

Panel version: 2.66

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

12417417

Created: 12 Dec 2016, 2:27 p.m.

Panel version: 0.5

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN
Radboud University Medical Center, Nijmegen
Literature
Illumina TruGenome Clinical Sequencing Services
Emory Genetics Laboratory

Phenotypes

?Seizures, scoliosis, and macrocephaly syndrome 616682
Exostoses, multiple, type 2 133701
Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)

OMIM

608210

Clinvar variants

Variants in EXT2

Penetrance

Complete

Publications

12417417

Panels with this gene