Lysosomal Storage Disorder
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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Variable severity. Well established gene-disease association.Created: 13 Apr 2021, 8:55 a.m. | Last Modified: 13 Apr 2021, 8:55 a.m.
Panel Version: 0.148
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mannosidosis, beta, MIM# 248510; MONDO:0009562
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Mannosidosis, beta, MIM# 248510
- MONDO:0009562
- OMIM
- 609489
- Clinvar variants
- Variants in MANBA
- Penetrance
- None
- Panels with this gene
History Filter Activity
13 Apr 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: manba has been classified as Green List (High Evidence).
13 Apr 2021, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MANBA were changed from to Mannosidosis, beta, MIM# 248510; MONDO:0009562
13 Apr 2021, Gel status: 3
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: MANBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MANBA was added gene: MANBA was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MANBA was set to Unknown