Congenital 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 9 panels

4 reviews

Ivone Leong (Genomics England Curator)

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

Louise Daugherty (Genomics England Curator)

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.

Rachael Mein (Viapath at Guy's Hospital)

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

Variants in this GENE are reported as part of current diagnostic practice

Rebecca Foulger (Genomics England curator)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • London South GLH
  • Literature
Phenotypes
  • congenital muscular dystrophy (CMD), progressive fatty liver and infantile-onset cataract
  • infantile-onset muscle weakness
  • Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356
OMIM
614138
Clinvar variants
Variants in TRAPPC11
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

9 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: trappc11 has been classified as Green List (High Evidence).

7 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

7 Aug 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: TRAPPC11 were set to 26322222

7 Aug 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TRAPPC11.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to TRAPPC11.

10 Oct 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

TRAPPC11 was created by rfoulger

10 Oct 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

TRAPPC11 was added to Congenital muscular dystrophypanel. Sources: Literature