Rhabdomyolysis and Metabolic Myopathy

Gene: MAN2B1

Green List (high evidence)

MAN2B1 (mannosidase alpha class 2B member 1)
EnsemblGeneIds (GRCh38): ENSG00000104774
EnsemblGeneIds (GRCh37): ENSG00000104774
OMIM: 609458, Gene2Phenotype
MAN2B1 is in 19 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Metabolic myopathy is a well-established feature of the condition.
Sources: Expert list
Created: 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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

History Filter Activity

2 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: man2b1 has been classified as Green List (High Evidence).

2 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: man2b1 has been classified as Green List (High Evidence).

2 Jun 2023, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

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