Congenital disorders of glycosylation

Gene: TRAPPC11

I don't know

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

• 23830518
• 26322222
• 29855340
• 30105108
• 26912795
• 27707803
• 27862579
• 28484880

I don't know

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 systems

Created: 19 Dec 2016, 4:48 p.m.

Red List (low evidence)

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

• 26912795
• 23830518