Congenital disorders of glycosylation
Gene: EXT1

EXT1 (exostosin glycosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000182197
EnsemblGeneIds (GRCh37): ENSG00000182197
OMIM: 608177, Gene2Phenotype
EXT1 is in 16 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.
Created: 3 Aug 2022, 3:22 p.m. | Last Modified: 3 Aug 2022, 3:22 p.m.

Panel Version: 2.92

The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 11:35 a.m. | Last Modified: 9 Mar 2022, 11:35 a.m.

Panel Version: 2.82

Created: 9 Mar 2022, 11:35 a.m.
Last Modified: 9 Mar 2022, 11:35 a.m.
Panel version: 2.92

Rebecca Foulger (Genomics England curator)

GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q16394-1
Created: 9 Jan 2020, 2:31 p.m. | Last Modified: 9 Jan 2020, 2:31 p.m.

Panel Version: 2.0

Created: 9 Jan 2020, 2:31 p.m.
Last Modified: 9 Jan 2020, 2:31 p.m.
Panel version: 2.0

Sarah Leigh (Genomics England Curator)

GlyGen link updated April 2021: https://www.glygen.org/protein/Q16394-1#Disease
Created: 8 Apr 2021, 12:17 p.m. | Last Modified: 8 Apr 2021, 12:18 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 10 variants reported.
Created: 15 Dec 2016, 4:56 p.m.

Comment on phenotypes: Also associated with Chondrosarcoma 215300
Created: 15 Dec 2016, 4:55 p.m. | Last Modified: 8 Apr 2021, 12:17 p.m.

Panel Version: 2.66

Created: 15 Dec 2016, 4:55 p.m.
Last Modified: 8 Apr 2021, 12:18 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, 2:26 p.m.

Panel version: 0.5

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

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

Phenotypes

Exostoses, multiple, type 1 133700
Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)

OMIM

608177

Clinvar variants

Variants in EXT1

Penetrance

Complete

Publications

12417417

Panels with this gene

History Filter Activity

9 Mar 2022, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene EXT1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

19 Dec 2016, Gel status: 4