Congenital disorders of glycosylation
Gene: EXT1The 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
GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q16394-1Created: 9 Jan 2020, 2:31 p.m. | Last Modified: 9 Jan 2020, 2:31 p.m.
Panel Version: 2.0
GlyGen link updated April 2021: https://www.glygen.org/protein/Q16394-1#DiseaseCreated: 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 215300Created: 15 Dec 2016, 4:55 p.m. | Last Modified: 8 Apr 2021, 12:17 p.m.
Panel Version: 2.66
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Mode of inheritance for gene EXT1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Promoted to V1 19th December 2016
Mode of inheritance for EXT1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Phenotypes for EXT1 were set to Exostoses, multiple, type 1 133700; Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
Publications for EXT1 were set to 12417417
EXT1 was added to Congenital disorders of glycosylationpanel. Source: UKGTN
EXT1 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
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
EXT1 was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
EXT1 was created by sleigh
EXT1 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory