Skeletal dysplasia
Gene: DPAGT1
Comment on list classification: Changing rating from red to green. It is green on the Congenital disorders of glycosylation panel (panel ID:25, version 1.32). Decision agreed with Prof Lyn Chitty.Created: 11 Dec 2019, 3:36 p.m. | Last Modified: 11 Dec 2019, 3:36 p.m.
Panel Version: 1.281
Adding gene to the panel from suggestion from Rhoda Akilapa. Skeletal anomalies reported including Rocker bottom feet, Bell-shaped chest, Multiple contractures, campodactily in hands,
Dorsal kyphosis, valgum feet, articular hyperlaxity (PMID: 30653653)
Sources: Expert listCreated: 11 Dec 2019, 3:34 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ij 608093; Myasthenic syndrome, congenital, 13, with tubular aggregates 614750; UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation)
Publications
Gene: dpagt1 has been classified as Green List (High Evidence).
Publications for gene: DPAGT1 were set to 12872255; 22304930
gene: DPAGT1 was added gene: DPAGT1 was added to Skeletal dysplasia. Sources: Expert list Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPAGT1 were set to 12872255; 22304930 Phenotypes for gene: DPAGT1 were set to Congenital disorder of glycosylation, type Ij 608093; Myasthenic syndrome, congenital, 13, with tubular aggregates 614750; UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation) Review for gene: DPAGT1 was set to GREEN