Rhabdomyolysis and Metabolic Myopathy
Gene: MAN2B1
Metabolic myopathy is a well-established feature of the condition.
Sources: Expert listCreated: 2 Jun 2023, 1:36 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alpha-mannosidosis MONDO:0009561
Publications
Variants in this GENE are reported as part of current diagnostic practice
Multi-system metabolic disorder, myopathy is a feature.Created: 3 Jun 2020, 3:52 a.m. | Last Modified: 3 Jun 2020, 3:52 a.m.
Panel Version: 0.103
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mannosidosis, alpha-, types I and II, MIM# 248500
Gene: man2b1 has been classified as Green List (High Evidence).
Gene: man2b1 has been classified as Green List (High Evidence).
gene: MAN2B1 was added gene: MAN2B1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert list Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN2B1 were set to 20301570 Phenotypes for gene: MAN2B1 were set to Alpha-mannosidosis MONDO:0009561 Review for gene: MAN2B1 was set to GREEN gene: MAN2B1 was marked as current diagnostic