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  2. Congenital Disorders of Glycosylation
  3. MAN2A2
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Congenital Disorders of Glycosylation

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 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single consanguineous family reported with homozygous truncating variant in two brothers with ID. Supportive biochemical data only.
Sources: Literature
Created: 1 Dec 2022, 3:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, MONDO:0015286, MAN2A2-reated

Publications

Created: 1 Dec 2022, 3:14 a.m.

Panel version: 1.29

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, MONDO:0015286, MAN2A2-reated
OMIM
600988
Clinvar variants
Variants in MAN2A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: man2a2 has been classified as Red List (Low Evidence).

1 Dec 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MAN2A2 was added gene: MAN2A2 was added to Congenital Disorders of Glycosylation. Sources: Literature 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 Congenital disorder of glycosylation, MONDO:0015286, MAN2A2-reated Review for gene: MAN2A2 was set to RED