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Mendeliome

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

>3 patients reported with variable muscle phenotype (primarily LGMD), which is a significant feature of this multisystemic childhood onset condition. Elevated CK consistent feature.

PMID: 23830518: 2 different variants reported. Patients from one family presented with early onset proximal muscle weakness and raised CK levels. The second family presented with muscle weakness and elevated CK suggestive of myopathy.

PMID: 26322222: Reported childhood onset muscular dystrophy in one patient

PMID: 29855340: 1 patient with biallelic variants in TRAPPC11

PMID: 30105108: 2 siblings with promixal muscle weakness reported. Childhood onset.
Created: 9 Apr 2022, 7:18 a.m. | Last Modified: 9 Apr 2022, 7:18 a.m.
Panel Version: 0.12809

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 18, MIM# 615356

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 18, MIM# 615356
OMIM
614138
Clinvar variants
Variants in TRAPPC11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TRAPPC11 were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 18, MIM# 615356

9 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TRAPPC11 were set to

9 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TRAPPC11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TRAPPC11 was added gene: TRAPPC11 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TRAPPC11 was set to Unknown