| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Skeletal dysplasia v1.281 | DPAGT1 | Eleanor Williams Classified gene: DPAGT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.281 | DPAGT1 | Eleanor Williams Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.281 | DPAGT1 | Eleanor Williams Gene: dpagt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.280 | DPAGT1 | Eleanor Williams Publications for gene: DPAGT1 were set to 12872255; 22304930 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v1.279 | DPAGT1 |
Eleanor Williams 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 Added comment: 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 list |
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