Congenital muscular dystrophy
Gene: TRAPPC11Comment on list classification: Promoted from red to amber. TRAPPC11 is associated with Muscular dystrophy, limb-girdle, autosomal recessive 18 in OMIM and Gene2Phenotype. There are 2 published cases of unrelated patients with congenital muscular dystrophy who have different variants in TRAPPC11 (PMID: 26322222; 29855340). There are >3 cases of patients with LGMD who have variants in this gene. Clinical input might be required to determine whether this gene should be green on this panel.Created: 7 Aug 2019, 12:58 p.m. | Last Modified: 7 Aug 2019, 12:58 p.m.
Panel Version: 1.60
Comment on list classification: After review, it was agreed that it was an appropriate phenotype, sufficient cases to support gene-disease association.Created: 9 Oct 2019, 12:19 p.m. | Last Modified: 9 Oct 2019, 12:19 p.m.
Panel Version: 1.62
Reviewed by Genomics England clinical team who noted the phenotype described in the OMIM cases have significant overlap with those described as 'Congenital muscular dystrophy'. There is a relevant muscular phenotype with onset in infancy / early childhood, a raised CK and dystrophic changes on muscle biopsy. The GLH representative has rated it green so would support green rating based on the evidence. The panel has not yet been discussed with the Test Group, but all genes will be reviewed before sign off.Created: 9 Oct 2019, 12:19 p.m. | Last Modified: 9 Oct 2019, 12:19 p.m.
Panel Version: 1.61
Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.Created: 29 Apr 2019, 3:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital muscular dystrophy (CMD), progressive fatty liver and infantile-onset cataract; infantile-onset muscle weakness
Publications
Variants in this GENE are reported as part of current diagnostic practice
PMID:26322222 (2015) describe 1 Han Chinese girl carrying compound heterozygous variants in TRAPPC11 with congenital muscular dystrophy (CMD), progressive fatty liver and infantile-onset cataract. High creatine kinase (CK) level was identified.Created: 10 Oct 2017, 11:57 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital muscular dystrophy (CMD), progressive fatty liver and infantile-onset cataract; infantile-onset muscle weakness
Publications
Phenotypes for gene: TRAPPC11 were changed from congenital muscular dystrophy (CMD), progressive fatty liver and infantile-onset cataract; infantile-onset muscle weakness; Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356 to Muscular dystrophy, limb-girdle, autosomal recessive 18, OMIM:615356
Gene: trappc11 has been classified as Green List (High Evidence).
Gene: trappc11 has been classified as Amber List (Moderate Evidence).
Publications for gene: TRAPPC11 were set to 26322222
Phenotypes for gene: TRAPPC11 were changed from congenital muscular dystrophy (CMD), progressive fatty liver and infantile-onset cataract; infantile-onset muscle weakness to congenital muscular dystrophy (CMD), progressive fatty liver and infantile-onset cataract; infantile-onset muscle weakness; Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356
Source NHS GMS was added to TRAPPC11.
Source London South GLH was added to TRAPPC11.
TRAPPC11 was created by rfoulger
TRAPPC11 was added to Congenital muscular dystrophypanel. Sources: Literature