Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: TRAPPC11Comment 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.
Comment on list classification: Comment from Emma Clement: too small numbers, does seem to cause LGMD in few cases reportedCreated: 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.
Comment on list classification: Insufficient families with a relevant phenotype at this stage.Created: 29 May 2016, 7:42 p.m.
This gene has been classified as Green List (High Evidence).
Publications for TRAPPC11 were set to 23830518; 27707803
Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.
This gene has been classified as Red List (Low Evidence).
Publications for TRAPPC11 were set to 23830518
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for TRAPPC11 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Red List (Low Evidence).
TRAPPC11 was added to Limb girdle muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen