Congenital disorders of glycosylation

Gene: EXT1

Green List (high evidence)

EXT1 (exostosin glycosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000182197
EnsemblGeneIds (GRCh37): ENSG00000182197
OMIM: 608177, Gene2Phenotype
EXT1 is in 17 panels

3 reviews

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

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

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
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
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 19th December 2016

15 Dec 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for EXT1 was changed to BIALLELIC, autosomal or pseudoautosomal

15 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Dec 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for EXT1 were set to Exostoses, multiple, type 1 133700; Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)

15 Dec 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for EXT1 were set to 12417417

1 Dec 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

EXT1 was added to Congenital disorders of glycosylationpanel. Source: UKGTN

1 Dec 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

EXT1 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen

1 Dec 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

EXT1 was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene EXT1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

1 Dec 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

EXT1 was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services

1 Dec 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

EXT1 was created by sleigh

1 Dec 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

EXT1 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory