Congenital muscular dystrophy
Gene: TRAPPC2L

TRAPPC2L (trafficking protein particle complex 2 like)
EnsemblGeneIds (GRCh38): ENSG00000167515
EnsemblGeneIds (GRCh37): ENSG00000167515
OMIM: 610970, Gene2Phenotype
TRAPPC2L is in 3 panels

1 review

Anna Sarkozy (Great Ormond Street Hospital)

I don't know

Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis.
Created: 27 May 2026, 9:42 a.m. | Last Modified: 27 May 2026, 9:42 a.m.

Panel Version: 7.9

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 27 May 2026, 9:42 a.m.
Last Modified: 27 May 2026, 9:42 a.m.
Panel version: 7.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Removed
NHS GMS

OMIM

610970

Clinvar variants

Variants in TRAPPC2L

Penetrance

None

Panels with this gene

History Filter Activity

27 May 2026, Gel status: 0

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: trappc2l has been removed from the panel.

27 May 2026, Gel status: 1

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: TRAPPC2L was added gene: TRAPPC2L was added to Congenital muscular dystrophy. Sources: NHS GMS Mode of inheritance for gene: TRAPPC2L was set to BIALLELIC, autosomal or pseudoautosomal

Congenital muscular dystrophy Gene: TRAPPC2L