Rhabdomyolysis and Metabolic Myopathy
Gene: MAN2B1EnsemblGeneIds (GRCh38): ENSG00000104774
EnsemblGeneIds (GRCh37): ENSG00000104774
OMIM: 609458, Gene2Phenotype
MAN2B1 is in 19 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Expert Review Green
- Phenotypes
-
- Alpha-mannosidosis MONDO:0009561
- OMIM
- 609458
- Clinvar variants
- Variants in MAN2B1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Prepair 1000+
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Hydrocephalus_Ventriculomegaly
- Macrocephaly_Megalencephaly
- Craniosynostosis
- Regression
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Cataract
- Syndromic Retinopathy
- Prepair 500+
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: man2b1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: man2b1 has been classified as Green List (High Evidence).
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