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| Acute rhabdomyolysis v1.4 | MLIP | Achchuthan Shanmugasundram Tag Q4_22_promote_green tag was added to gene: MLIP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Acute rhabdomyolysis v1.4 | MLIP | Achchuthan Shanmugasundram Phenotypes for gene: MLIP were changed from Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis; MIM# 620138 to Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Acute rhabdomyolysis v1.3 | MLIP | Achchuthan Shanmugasundram Classified gene: MLIP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Acute rhabdomyolysis v1.3 | MLIP | Achchuthan Shanmugasundram Gene: mlip has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Acute rhabdomyolysis v1.2 | MLIP | Achchuthan Shanmugasundram edited their review of gene: MLIP: Changed phenotypes to: Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Acute rhabdomyolysis v1.2 | MLIP |
Achchuthan Shanmugasundram gene: MLIP was added gene: MLIP was added to Acute rhabdomyolysis. 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 Added comment: 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: Literature |
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