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DDG2P

Gene: MAN2A2

Red List (low evidence)
MAN2A2 (mannosidase alpha class 2A member 2)
EnsemblGeneIds (GRCh38): ENSG00000196547
EnsemblGeneIds (GRCh37): ENSG00000196547
OMIM: 600988, Gene2Phenotype
MAN2A2 is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for MAN2A2-related disorder of glycosylation are limited, biallelic_autosomal and undetermined (PMID:36357165). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03421.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease MAN2A2-related disorder of glycosylation is limited. The allelic requirement and mutation consequence are biallelic_autosomal and uncertain (PMID:36357165).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MONDO:0024322; MAN2A2-related disorder of glycosylation

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • DD-Gene2Phenotype
Phenotypes
  • MAN2A2-related disorder of glycosylation
OMIM
600988
Clinvar variants
Variants in MAN2A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: MAN2A2 was changed from Other to None

4 Oct 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: MAN2A2 was added gene: MAN2A2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: MAN2A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN2A2 were set to 36357165 Phenotypes for gene: MAN2A2 were set to MAN2A2-related disorder of glycosylation Mode of pathogenicity for gene: MAN2A2 was set to Other