Congenital disorders of glycosylation
Gene: LARGE1GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=O95461-1Created: 9 Jan 2020, 2:37 p.m. | Last Modified: 9 Jan 2020, 2:37 p.m.
Panel Version: 2.0
GlyGen link updated April 2021: https://www.glygen.org/protein/O95461-1#DiseaseCreated: 8 Apr 2021, 1:08 p.m. | Last Modified: 8 Apr 2021, 1:08 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 8 variants reported.Created: 19 Dec 2016, 10:09 a.m.
New name is LARGE1Created: 19 Dec 2016, 10:08 a.m.
dystroglycanopathyCreated: 12 Dec 2016, 2:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
added new-gene-name tagCreated: 9 Dec 2016, 3:32 p.m.
LARGE was changed to LARGE1
new-gene-name was removed from LARGE. Panel: Congenital disorders of glycosylation
Promoted to V1 19th December 2016
This gene has been classified as Green List (High Evidence).
Publications for LARGE were set to 27421908
LARGE was added to Congenital disorders of glycosylationpanel. Source: UKGTN
LARGE was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
LARGE was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene LARGE was set to BIALLELIC, autosomal or pseudoautosomal
LARGE was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
LARGE was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
LARGE was created by sleigh