Congenital disorders of glycosylation
Gene: POMT1GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q9Y6A1-1Created: 9 Jan 2020, 2:46 p.m. | Last Modified: 9 Jan 2020, 2:46 p.m.
Panel Version: 2.0
GlyGen link updated April 2021: https://www.glygen.org/protein/Q9Y6A1-1#DiseaseCreated: 8 Apr 2021, 1:56 p.m. | Last Modified: 8 Apr 2021, 1:56 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 in Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670, 9 in Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155 and 3 in 2 cases of Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308Created: 19 Dec 2016, 11:28 a.m.
dystroglycanopathyCreated: 12 Dec 2016, 2:34 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 POMT1 were set to 27421908
POMT1 was added to Congenital disorders of glycosylationpanel. Source: UKGTN
POMT1 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
POMT1 was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene POMT1 was set to BIALLELIC, autosomal or pseudoautosomal
POMT1 was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
POMT1 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
POMT1 was created by sleigh