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 synthesis.Created: 15 Jul 2020, 8:28 a.m. | Last Modified: 15 Jul 2020, 8:28 a.m.
Panel Version: 2.14
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 18 MIM# 615356
Publications
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least four variants reported in four unrelated cases. Animal model suggestive of involvement in glycosylation.Created: 8 Feb 2021, 11:57 a.m. | Last Modified: 8 Feb 2021, 11:57 a.m.
Panel Version: 2.30
Comment when marking as ready: Associated with phenotype in OMIM and as a probable Developmental Disorder Gene / G2P. At least 4 variants reported 5 unrelated families. Expert reviewer notes biochemical study glycosylation defects caused by the mutations were shown in model systemsCreated: 19 Dec 2016, 4:48 p.m.
A set of related patients with mutations in TRAPPC11 was described. In a biochemical study glycosylation defects caused by the mutations were shown in model systems.Created: 14 Dec 2016, 4:17 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Phenotypes for gene: TRAPPC11 were changed from Muscular dystrophy, limb-girdle, type 2S 615356 to Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM:615356; autosomal recessive limb-girdle muscular dystrophy type 2S MONDO:0014144
Phenotypes for gene: TRAPPC11 were changed from Muscular dystrophy, limb-girdle, type 2S 615356 to Muscular dystrophy, limb-girdle, type 2S 615356
Publications for gene: TRAPPC11 were set to 26912795; 23830518
Gene: trappc11 has been classified as Amber List (Moderate Evidence).
Promoted to V1 19th December 2016
This gene has been classified as Red List (Low Evidence).
Phenotypes for TRAPPC11 were set to Muscular dystrophy, limb-girdle, type 2S 615356
This gene has been classified as Red List (Low Evidence).
TRAPPC11 was added to Congenital disorders of glycosylationpanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for gene TRAPPC11 were set to Muscular dystrophy, limb-girdle, type 2S 615356
TRAPPC11 was added to Congenital disorders of glycosylationpanel. Sources: Literature
TRAPPC11 was created by ungardani