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Congenital nystagmus
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)

I don't know

Two mono-allelic variants reported in association with isolated nystagmus. Note bi-allelic variants cause a lysosomal storage disorder.
Created: 27 Oct 2021, 7:41 a.m. | Last Modified: 27 Oct 2021, 7:41 a.m.

Panel Version: 0.154

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Nystagmus, autosomal dominant

Publications

Created: 27 Oct 2021, 7:41 a.m.
Last Modified: 27 Oct 2021, 7:41 a.m.
Panel version: 0.154

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Genomics England PanelApp
NHS Genomic Medicine Service

Phenotypes

Nystagmus, autosomal dominant

OMIM

Clinvar variants

Variants in MANBA

Penetrance

None

Publications

Panels with this gene

History Filter Activity

27 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: manba has been classified as Amber List (Moderate Evidence).

27 Oct 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MANBA were changed from Mannosidosis, beta 248510 AR to Nystagmus, autosomal dominant

27 Oct 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MANBA were set to

27 Oct 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MANBA was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

6 Oct 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Mannosidosis, beta 248510 AR for gene: MANBA

6 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MANBA was added gene: MANBA was added to Albinism or congenital nystagmus. Sources: Expert Review Amber,NHS Genomic Medicine Service,Genomics England PanelApp Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MANBA were set to Mannosidosis, beta 248510 AR