This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: MANBA
MANBA (mannosidase beta)
EnsemblGeneIds (GRCh38): ENSG00000109323
EnsemblGeneIds (GRCh37): ENSG00000109323
OMIM: 609489, Gene2Phenotype
MANBA is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000109323
EnsemblGeneIds (GRCh37): ENSG00000109323
OMIM: 609489, Gene2Phenotype
MANBA is in 11 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
Lysosomal storage diseases with skeletal involvement (dysostosis multiplex gp of SD), at least 3 cases. This gene doesn't appear to be linked to any particular skeletal dysplasia. There are a few cases with facial dysmorphism and a mention of bone disease. One to discussCreated: 18 Apr 2019, 1:53 p.m.
Phenotypes
Mannosidosis, beta 248510
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Beta-mannosidosis, 248510
- OMIM
- 609489
- Clinvar variants
- Variants in MANBA
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Intellectual disability
- Early onset or syndromic epilepsy
- Albinism or congenital nystagmus
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
- Hyperammonaemia
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Lysosomal storage disorder
History Filter Activity
18 Apr 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: MANBA was added gene: MANBA was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MANBA were set to Beta-mannosidosis, 248510