Congenital disorders of glycosylation
Gene: EXT2GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q93063-1Created: 9 Jan 2020, 2:32 p.m. | Last Modified: 9 Jan 2020, 2:32 p.m.
Panel Version: 2.0
GlyGen link updated April 2021: https://www.glygen.org/protein/Q93063-1#DiseaseCreated: 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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Promoted to V1 19th December 2016
This gene has been classified as Green List (High Evidence).
Publications for EXT2 were set to 12417417
EXT2 was added to Congenital disorders of glycosylationpanel. Source: UKGTN
EXT2 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
EXT2 was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene EXT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
EXT2 was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
EXT2 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
EXT2 was created by sleigh