Rhabdomyolysis and metabolic muscle disorders
Gene: MLIP
The rating of this gene has been updated to green and the mode of inheritance set to "BIALLELIC, autosomal or pseudoautosomal" following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 11:17 a.m. | Last Modified: 11 Oct 2023, 11:40 a.m.
Panel Version: 3.37
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on classification of this gene: The rating for this gene should be added as GREEN, as this gene has been implicated in rhabdomyolysis, as identified from biallelic variants from four unrelated cases from multiple ethnicities.
Seven patients from six families carrying six different biallelic (either homozygous or compound heterozygous) variants in MLIP gene were presented with a consistent phenotype including mild muscle weakness, exercise-induced muscle pain, variable susceptibility to episodes of rhabdomyolysis (reported in five individuals from four families), and persistent basal elevated serum creatine kinase (CK) levels. The age of onset of symptoms ranged from 8 months to 7 years (PMID:34581780). However, patients carrying biallelic variants in MLIP gene were not reported with rhabdomyolysis in other studies (PMID:34935254; PMID:35672413; PMID:35915960).
The association of MLIP to rhabdomyolysis has now been documented in OMIM (#620138).
Sources: LiteratureCreated: 11 Dec 2022, 9:50 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138
Publications
Tag Q4_22_promote_green was removed from gene: MLIP.
Source Expert Review Green was added to MLIP. Source NHS GMS was added to MLIP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q4_22_promote_green tag was added to gene: MLIP.
Gene: mlip has been classified as Amber List (Moderate Evidence).
gene: MLIP was added gene: MLIP was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Literature Mode of inheritance for gene: MLIP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MLIP were set to 34581780; 34935254; 35672413; 35915960; 35942668 Phenotypes for gene: MLIP were set to Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138 Review for gene: MLIP was set to GREEN