Congenital Disorders of Glycosylation

Gene: TRAPPC11

Amber List (moderate evidence)

TRAPPC11 (trafficking protein particle complex 11)
EnsemblGeneIds (GRCh38): ENSG00000168538
EnsemblGeneIds (GRCh37): ENSG00000168538
OMIM: 614138, Gene2Phenotype
TRAPPC11 is in 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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, 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

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

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
Created: 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

History Filter Activity

15 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trappc11 has been classified as Amber List (Moderate Evidence).

15 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trappc11 has been classified as Amber List (Moderate Evidence).

15 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Paul De Fazio (Victorian Clinical Genetics Services)

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