Albinism or congenital nystagmus


Amber List (moderate evidence)

MANBA (mannosidase beta)
EnsemblGeneIds (GRCh38): ENSG00000109323
EnsemblGeneIds (GRCh37): ENSG00000109323
OMIM: 609489, Gene2Phenotype
MANBA is in 12 panels

1 review

Jonathan Callaway (Wessex Regional Genetics Laboratory)

I don't know

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

Mannosidosis, beta 248510 AR

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