Congenital myopathy

Gene: MLIP

No list

MLIP (muscular LMNA interacting protein)
EnsemblGeneIds (GRCh38): ENSG00000146147
EnsemblGeneIds (GRCh37): ENSG00000146147
OMIM: 614106, Gene2Phenotype
MLIP is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

PMID: 34581780: 7 individuals with 6 families with truncating (one splice that also resulted in a frameshift variant) biallelic variants (used NM_1281746).

In 3 patients patients’ skeletal muscle, these variants were shown to cause reduction overall RNA expression levels of the predominant MLIP isoform.

Patients presented with a consistent phenotype characterized by mild muscle weakness, exercise-induced muscle pain, variable susceptibility to episodes of rhabdomyolysis, and persistent basal elevated serum creatine kinase levels.
Sources: Literature
Created: 4 Dec 2021, 8:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MLIP-related myopathy with rhabdomyolysis

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • MLIP-related myopathy with rhabdomyolysis
OMIM
614106
Clinvar variants
Variants in MLIP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Dec 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: MLIP was added gene: MLIP was added to Congenital myopathy. Sources: Literature Mode of inheritance for gene: MLIP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MLIP were set to 34581780 Phenotypes for gene: MLIP were set to MLIP-related myopathy with rhabdomyolysis Review for gene: MLIP was set to GREEN