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  3. MAN2B2
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Likely inborn error of metabolism

Gene: MAN2B2

Amber List (moderate evidence)
MAN2B2 (mannosidase alpha class 2B member 2)
EnsemblGeneIds (GRCh38): ENSG00000013288
EnsemblGeneIds (GRCh37): ENSG00000013288
MAN2B2 is in 4 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is now sufficient evidence to promote this gene to Green at the next GMS panel update.
Created: 2 May 2025, 2:57 p.m. | Last Modified: 2 May 2025, 2:57 p.m.
Panel Version: 8.5
PMID: 38622837 - third case of congenital disorders of glycosylation associated with biallelic variants (c.384G>T; c.926T>A) in the MAN2B2 gene. The patient displayed metabolic abnormalities, symptoms of digestive tract dysfunction, infection, dehydration, and seizures.
Created: 2 May 2025, 2:55 p.m. | Last Modified: 2 May 2025, 2:55 p.m.
Panel Version: 8.4

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation type 1EE with or without immunodeficiency, OMIM:621140

Publications

Created: 2 May 2025, 2:55 p.m.
Last Modified: 2 May 2025, 2:55 p.m.
Panel version: 8.4

Julia Baptista (South East Genomic Laboratory Hub, Synnovis, King's College Hospital)

Green List (high evidence)

Three cases reported in the literature.

OMIM entry now available for AR Congenital disorder of glycosylation type 1EE with or without immunodeficiency.
Created: 26 Apr 2025, 6:02 p.m. | Last Modified: 26 Apr 2025, 6:02 p.m.
Panel Version: 7.27

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital disorders of glycosylation

Publications

Created: 26 Apr 2025, 6:02 p.m.
Last Modified: 26 Apr 2025, 6:02 p.m.
Panel version: 7.27

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

There are two different cases reported with biallelic MAN2B2 variants and congenital disorders of glycosylation. The patient reported in PMID:31775018 with homozygous p.Asp38Asn variant presented with immune deficiency, dysmorphic facial features, coagulopathy, and severe developmental delay. Although the patient reported in PMID:35637269 with compound heterozygous variants (p.Ser147del and p.Glu790Lys) had severe developmental delay, dysmorphic facial features as in the previous case, this patient had new features including cleft palate and hypospadias with no immune deficiency.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Created: 1 Nov 2023, 11:29 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital disorder of glycosylation, MONDO:0015286

Publications

Created: 1 Nov 2023, 11:29 p.m.

Copied from panel: Congenital disorders of glycosylation v4.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital disorder of glycosylation type 1EE with or without immunodeficiency, OMIM:621140
Tags
Q2_25_ promote_green Q2_25_ NHS_review
Clinvar variants
Variants in MAN2B2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 May 2025, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

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

2 May 2025, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_25_ promote_green tag was added to gene: MAN2B2. Tag Q2_25_ NHS_review tag was added to gene: MAN2B2.

2 May 2025, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: MAN2B2 were set to 31775018; 35637269

2 May 2025, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MAN2B2 were changed from congenital disorder of glycosylation, MONDO:0015286 to Congenital disorder of glycosylation type 1EE with or without immunodeficiency, OMIM:621140

8 Jan 2024, Gel status: 2

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

Sarah Leigh (Genomics England Curator)

gene: MAN2B2 was added gene: MAN2B2 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Literature,Expert Review Amber Mode of inheritance for gene: MAN2B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN2B2 were set to 31775018; 35637269 Phenotypes for gene: MAN2B2 were set to congenital disorder of glycosylation, MONDO:0015286