Leukodystrophy - adult onset
Gene: MAN2B1

MAN2B1 (mannosidase alpha class 2B member 1)
EnsemblGeneIds (GRCh38): ENSG00000104774
EnsemblGeneIds (GRCh37): ENSG00000104774
OMIM: 609458, Gene2Phenotype
MAN2B1 is in 19 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

White matter changes may occur in adulthood.
Created: 2 May 2020, 3:46 a.m. | Last Modified: 2 May 2020, 3:46 a.m.

Panel Version: 0.29

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mannosidosis, alpha-, types I and II, MIM# 248500

Created: 2 May 2020, 3:46 a.m.
Last Modified: 2 May 2020, 3:46 a.m.
Panel version: 0.29

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Mannosidosis, alpha-, types I and II, MIM#248500

OMIM

609458

Clinvar variants

Variants in MAN2B1

Penetrance

None

Panels with this gene

History Filter Activity

2 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: man2b1 has been classified as Green List (High Evidence).

30 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MAN2B1 was added gene: MAN2B1 was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II, MIM#248500

Leukodystrophy - adult onset Gene: MAN2B1