This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: MAN2B1
MAN2B1 (mannosidase alpha class 2B member 1)
EnsemblGeneIds (GRCh38): ENSG00000104774
EnsemblGeneIds (GRCh37): ENSG00000104774
OMIM: 609458, Gene2Phenotype
MAN2B1 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000104774
EnsemblGeneIds (GRCh37): ENSG00000104774
OMIM: 609458, Gene2Phenotype
MAN2B1 is in 15 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
Lysosomal Storage Diseases with Skeletal Involvement (Dysostosis Multiplex group of SD) - >3 cases.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mannosidosis, alpha-, types I and II 248500
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Mannosidosis, alpha-, types I and II 248500
- OMIM
- 609458
- Clinvar variants
- Variants in MAN2B1
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Undiagnosed metabolic disorders
- Structural eye disease
- Hyperammonaemia
- Skeletal dysplasia
- Adult onset leukodystrophy
- Childhood onset dystonia, chorea or related movement disorder
- Hydrocephalus
- Retinal disorders
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Fetal anomalies
- DDG2P
- Lysosomal storage disorder
History Filter Activity
6 Mar 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: MAN2B1 was added gene: MAN2B1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II 248500