Albinism or congenital nystagmus
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
Jonathan Callaway (Wessex Regional Genetics Laboratory)
Limited evidence available. Comments from OMIM: There is an 'association pending confirmation' on OMIM of two missense variants with nystagmus (Yu et al. 2015; PMID 25741867). Comments from HGMDpro: 21 variants listed, including some LOF variants. However the majority have mannosidosis, beta as the reported phenotype. Only 2 variants have nystagmus within the reported phenotype - both missense variants and both reported by Yu et al. 2015.Created: 20 Mar 2019, 4:11 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mannosidosis, beta 248510 AR
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- NHS GMS
- Phenotypes
-
- Mannosidosis, beta 248510 AR
- OMIM
- 609489
- Clinvar variants
- Variants in MANBA
- Penetrance
- None
- Panels with this gene
-
- Lysosomal storage disorder
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Early onset or syndromic epilepsy
- DDG2P
- Albinism or congenital nystagmus
- Intellectual disability
- Hyperammonaemia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Skeletal dysplasia
History Filter Activity
20 Mar 2019, Gel status: 2
Added New Source, Set Phenotypes, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Amber was added to MANBA. Added phenotypes Mannosidosis, beta 248510 AR for gene: MANBA Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
20 Mar 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: MANBA was added gene: MANBA was added to Albinism or congenital nystagmus. Sources: NHS GMS Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MANBA were set to Mannosidosis, beta 248510 AR