Congenital disorders of glycosylation
Gene: MAN2B2EnsemblGeneIds (GRCh38): ENSG00000013288
EnsemblGeneIds (GRCh37): ENSG00000013288
MAN2B2 is in 4 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
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: 7.4
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, 2:56 p.m. | Last Modified: 2 May 2025, 2:56 p.m.
Panel Version: 7.3
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation type 1EE with or without immunodeficiency, OMIM:621140
Publications
Julia Baptista (South East Genomic Laboratory Hub, Synnovis, King's College Hospital)
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, 5:59 p.m. | Last Modified: 26 Apr 2025, 5:59 p.m.
Panel Version: 6.11
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital disorder of glycosylation
Publications
Achchuthan Shanmugasundram (Genomics England Curator)
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: LiteratureCreated: 1 Nov 2023, 11:29 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital disorder of glycosylation, MONDO:0015286
Publications
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
- Clinvar variants
- Variants in MAN2B2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: man2b2 has been classified as Amber List (Moderate Evidence).
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.
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: MAN2B2 were set to 31775018; 35637269
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
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: man2b2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)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; 35637269 Phenotypes for gene: MAN2B2 were set to congenital disorder of glycosylation, MONDO:0015286 Review for gene: MAN2B2 was set to AMBER