Limb girdle muscular dystrophy

Gene: TRAPPC11

Green List (high evidence)

TRAPPC11 (trafficking protein particle complex 11)
EnsemblGeneIds (GRCh38): ENSG00000168538
EnsemblGeneIds (GRCh37): ENSG00000168538
OMIM: 614138, Gene2Phenotype
TRAPPC11 is in 8 panels

3 reviews

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Green based on additional case in 2017 paper (PMID:27707803) and clinical advice from Helen Brittain.
Created: 10 Oct 2017, 11:26 a.m.
PMID:27707803 (2017) identified a homozygous splice mutation in TRAPPC11 in 4 patients from 2 apparently unrelated consanguineous Turkish families suffering with myopathy and intellectual disability. The variant was absent from dbSNP, ExAC and 1000 genome databases. Haplotype analysis was performed to test the relatedness of the families- this showed that the families are not closely related by the variant may be a founder variant.
Created: 10 Oct 2017, 11:01 a.m.

Sarah Leigh (Genomics England Curator)

Comment on list classification: Comment from Emma Clement: too small numbers, does seem to cause LGMD in few cases reported
Created: 14 Jun 2016, 11:27 a.m.
Comment on publications: Two variants reported in Syrian and Hutterite families. In vitro evidence provided.
Created: 14 Jun 2016, 11:24 a.m.

Ellen Thomas (Genomics England Curator)

Comment on list classification: Insufficient families with a relevant phenotype at this stage.
Created: 29 May 2016, 7:42 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2S, 615356
OMIM
614138
Clinvar variants
Variants in TRAPPC11
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

10 Oct 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

10 Oct 2017, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for TRAPPC11 were set to 23830518; 27707803

27 Jul 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.

14 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

14 Jun 2016, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for TRAPPC11 were set to 23830518

29 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

29 May 2016, Gel status: 1

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for TRAPPC11 was changed to BIALLELIC, autosomal or pseudoautosomal

29 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TRAPPC11 was added to Limb girdle muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen