Genes in panel

Inborn errors of metabolism

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

1 review

Sarah Leigh (Genomics England Curator)

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: 2.51

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM:615356
  • autosomal recessive limb-girdle muscular dystrophy type 2S MONDO:0014144
OMIM
614138
Clinvar variants
Variants in TRAPPC11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Feb 2021, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: TRAPPC11 were set to 23830518; 26322222; 29855340; 30105108; 26912795; 27707803; 27862579; 28484880

8 Feb 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: TRAPPC11 were changed from Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM:615356; autosomal recessive limb-girdle muscular dystrophy type 2S MONDO:0014144 to Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM:615356; autosomal recessive limb-girdle muscular dystrophy type 2S MONDO:0014144

8 Feb 2021, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: TRAPPC11 were set to 23830518; 26912795

8 Feb 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: TRAPPC11 were changed from Muscular dystrophy, limb-girdle, type 2S to Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM:615356; autosomal recessive limb-girdle muscular dystrophy type 2S MONDO:0014144

8 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: TRAPPC11 was added gene: TRAPPC11 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC11 were set to 23830518; 26912795 Phenotypes for gene: TRAPPC11 were set to Muscular dystrophy, limb-girdle, type 2S