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  2. Congenital Disorders of Glycosylation
  3. MAN2B2
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Congenital Disorders of Glycosylation

Gene: MAN2B2

Amber List (moderate evidence)
MAN2B2 (mannosidase alpha class 2B member 2)
EnsemblGeneIds (GRCh38): ENSG00000013288
EnsemblGeneIds (GRCh37): ENSG00000013288
MAN2B2 is in 3 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

I don't know

PMID: 38622837 - Now a 3rd case with metabolic abnormalities, symptoms of digestive tract dysfunction, infection, dehydration, and seizures. No developmental delay reported.
There is a lot of variability in the phenotype of the 3 cases reported to date.
Created: 10 Nov 2024, 3:58 a.m. | Last Modified: 10 Nov 2024, 3:58 a.m.
Panel Version: 1.52

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related

Publications

Created: 10 Nov 2024, 3:58 a.m.
Last Modified: 10 Nov 2024, 3:58 a.m.
Panel version: 1.52

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

PMID:35637269 describes a second case of a patient with developmental delay and dysmorphic features, but no immune phenotype with compound heterozygous variants (p.Ser147del and p.Glu790Lys).
Created: 2 Nov 2023, 1:53 a.m. | Last Modified: 2 Nov 2023, 1:53 a.m.
Panel Version: 1.39
Single individual reported.
Sources: Literature
Created: 30 Apr 2020, 11:31 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related

Publications

Created: 30 Apr 2020, 11:31 p.m.

Panel version: 1.39

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related
Clinvar variants
Variants in MAN2B2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Nov 2024, Gel status: 2

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: MAN2B2 were changed from ongenital disorder of glycosylation, MONDO:0015286, MAN2B2-related to Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related

10 Nov 2024, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: MAN2B2 were set to 31775018; 35637269

2 Nov 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MAN2B2 were changed from Congenital disorder of glycosylation; immunodeficiency to ongenital disorder of glycosylation, MONDO:0015286, MAN2B2-related

2 Nov 2023, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MAN2B2 were set to 31775018

2 Nov 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: man2b2 has been classified as Amber List (Moderate Evidence).

1 May 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: man2b2 has been classified as Red List (Low Evidence).

30 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MAN2B2 was added gene: MAN2B2 was added to Congenital Disorders of Glycosylation. Sources: Literature Mode of inheritance for gene: MAN2B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN2B2 were set to 31775018 Phenotypes for gene: MAN2B2 were set to Congenital disorder of glycosylation; immunodeficiency Review for gene: MAN2B2 was set to RED