Skeletal dysplasia
Gene: MANBA

MANBA (mannosidase beta)
EnsemblGeneIds (GRCh38): ENSG00000109323
EnsemblGeneIds (GRCh37): ENSG00000109323
OMIM: 609489, Gene2Phenotype
MANBA is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two mono-allelic variants reported in association with isolated nystagmus.
Created: 27 Oct 2021, 7:42 a.m. | Last Modified: 27 Oct 2021, 7:42 a.m.

Panel Version: 0.9504

Bi-allelic variants and lysosomal storage disorder: Variable severity. Well established gene-disease association.
Created: 13 Apr 2021, 8:57 a.m. | Last Modified: 27 Oct 2021, 7:43 a.m.

Panel Version: 0.9504

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Mannosidosis, beta, MIM# 248510; MONDO:0009562; Nystagmus, autosomal dominant

Publications

Created: 13 Apr 2021, 8:57 a.m.
Last Modified: 27 Oct 2021, 7:43 a.m.
Panel version: Imported from Mendeliome panel version 0.9504

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Amber
NHS GMS
Victorian Clinical Genetics Services

Phenotypes

Beta-mannosidosis, 248510

OMIM

609489

Clinvar variants

Variants in MANBA

Penetrance

None

Publications

Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MANBA was added gene: MANBA was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MANBA were set to 18980795; 16401745; 2079835 Phenotypes for gene: MANBA were set to Beta-mannosidosis, 248510

Skeletal dysplasia Gene: MANBA