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| Congenital Disorders of Glycosylation v0.70 | TRAPPC11 | Zornitza Stark Marked gene: TRAPPC11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.70 | TRAPPC11 | Zornitza Stark Gene: trappc11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.70 | TRAPPC11 | Zornitza Stark Classified gene: TRAPPC11 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.70 | TRAPPC11 | Zornitza Stark Gene: trappc11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.69 | TRAPPC11 | Zornitza Stark reviewed gene: TRAPPC11: Rating: AMBER; Mode of pathogenicity: None; Publications: 23830518, 26322222, 29855340, 30105108, 26912795, 27707803, 27862579, 28484880; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 18 MIM# 615356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.57 | TRAPPC11 |
Paul De Fazio changed review comment from: Association with a multisystem disorder including muscular dystrophy is established (green in our Muscular dystrophy gene list). Biochemical studies in zebrafish show that TRAPPC11 is involved in protein glycosylation (PMID: 26912795). The authors proposed that TRAPPC11 may function as a scaffold for enzymes of protein N-glycosylation or as a cofactor for an enzyme in lipid-linked oligosaccharide synthesis. Patients with homozygous or compound heterozygous TRAPPC11 variants have been found to have abnormal glycosylation of the LAMP1/LAMP2 proteins (PMID: 23830518, 27707803). TRAPPC11 has been implicated in α-dystroglycan hypoglycosylation (PMID: 29855340). A patient with biallelic TRAPPC11 variants was found to have abnormal transferrin and Apo CIII glycosylation patterns, consistent with a CDG (PMID: 27862579). TRAPPC11-CDG has been suggested to be a "Novel CDG in ER to Golgi trafficking " (PMID: 28484880) Sources: Literature; to: Association with a multisystem disorder including muscular dystrophy is established (green in our Muscular dystrophy gene list). Biochemical studies in zebrafish show that TRAPPC11 is involved in protein glycosylation (PMID: 26912795). The authors proposed that TRAPPC11 may function as a scaffold for enzymes of protein N-glycosylation or as a cofactor for an enzyme in lipid-linked oligosaccharide synthesis. Patients with homozygous or compound heterozygous TRAPPC11 variants have been found to have abnormal glycosylation of the LAMP1/LAMP2 proteins (PMID: 23830518, 27707803). TRAPPC11 has been implicated in α-dystroglycan hypoglycosylation (PMID: 29855340). A patient with biallelic TRAPPC11 variants was found to have abnormal transferrin and Apo CIII glycosylation patterns, consistent with a CDG (PMID: 27862579). TRAPPC11-CDG has been suggested to be a "Novel CDG in ER to Golgi trafficking" (PMID: 28484880) Sources: Literature |
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| Congenital Disorders of Glycosylation v0.57 | TRAPPC11 |
Paul De Fazio gene: TRAPPC11 was added gene: TRAPPC11 was added to Congenital Disorders of Glycosylation. Sources: Literature Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC11 were set to 23830518; 26322222; 29855340; 30105108; 26912795; 27707803; 27862579; 28484880 Phenotypes for gene: TRAPPC11 were set to Muscular dystrophy, limb-girdle, autosomal recessive 18 MIM# 615356 Review for gene: TRAPPC11 was set to GREEN gene: TRAPPC11 was marked as current diagnostic Added comment: Association with a multisystem disorder including muscular dystrophy is established (green in our Muscular dystrophy gene list). Biochemical studies in zebrafish show that TRAPPC11 is involved in protein glycosylation (PMID: 26912795). The authors proposed that TRAPPC11 may function as a scaffold for enzymes of protein N-glycosylation or as a cofactor for an enzyme in lipid-linked oligosaccharide synthesis. Patients with homozygous or compound heterozygous TRAPPC11 variants have been found to have abnormal glycosylation of the LAMP1/LAMP2 proteins (PMID: 23830518, 27707803). TRAPPC11 has been implicated in α-dystroglycan hypoglycosylation (PMID: 29855340). A patient with biallelic TRAPPC11 variants was found to have abnormal transferrin and Apo CIII glycosylation patterns, consistent with a CDG (PMID: 27862579). TRAPPC11-CDG has been suggested to be a "Novel CDG in ER to Golgi trafficking " (PMID: 28484880) Sources: Literature |
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