Congenital muscular dystrophy and congenital myopathy

Gene: TRAPPC11

Comment 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

Green List (high evidence)

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.

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital muscular dystrophy (CMD), progressive fatty liver and infantile-onset cataract; infantile-onset muscle weakness

Publications

• 26322222

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

• 26322222