Congenital Disorders of Glycosylation
Gene: TRAPPC11
Impact on glycosylation has been demonstrated in zebrafish and it has been postulated that TRAPPC11 may function as a scaffold for enzymes of protein N-glycosylation or as a cofactor for an enzyme in lipid-linked oligosaccharide synthesisCreated: 15 Jul 2020, 6:20 a.m. | Last Modified: 15 Jul 2020, 6:20 a.m.
Panel Version: 0.69
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 18 MIM# 615356
Publications
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: LiteratureCreated: 15 Jul 2020, 1:18 a.m. | Last Modified: 15 Jul 2020, 1:19 a.m.
Panel Version: 0.57
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 18 MIM# 615356
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: trappc11 has been classified as Amber List (Moderate Evidence).
Gene: trappc11 has been classified as Amber List (Moderate Evidence).
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