Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: MAN2B2EnsemblGeneIds (GRCh38): ENSG00000013288
EnsemblGeneIds (GRCh37): ENSG00000013288
MAN2B2 is in 4 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Upgrading to Amber as another patient has been identified with biallelic variants (c.384G>T; c.926T>A) in the MAN2B2 gene, who displayed immune dysregulation as part of the phenotype (PMID: 38622837)Created: 2 May 2025, 2:36 p.m. | Last Modified: 2 May 2025, 2:36 p.m.
Panel Version: 8.6
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: There is only one case reported with immunodeficiency (PMID:31775018). The patient reported in PMID:35637269 presented with severe developmental delay and dysmorphic facial features as in the previous case, but do not present with immunodeficiency. Hence, this gene can only be rated red with current evidence.Created: 1 Nov 2023, 11:17 p.m. | Last Modified: 1 Nov 2023, 11:17 p.m.
Panel Version: 4.106
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital disorder of glycosylation, MONDO:0015286
Publications
Hannah Knight (NIHR BioResource - University of Cambridge)
PMID: 35637269 describe a second case of a patient with developmental delay, but no immune phenotype with compound het variants (p.Ser147del and p.Glu790Lys)Created: 18 Oct 2023, 2:13 p.m. | Last Modified: 18 Oct 2023, 2:13 p.m.
Panel Version: 4.50
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe developmental delay; dysmorphic facial features; immune dysregulation; developmental delay; stroke
Publications
Inga Nartisa (researcher)
Sources: OtherCreated: 29 Nov 2022, 8:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
- PMID: 31775018
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Congenital disorder of glycosylation type 1EE with or without immunodeficiency, OMIM:621140
- 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).
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: MAN2B2 were set to 31775018
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
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: MAN2B2 were changed from to congenital disorder of glycosylation, MONDO:0015286
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: MAN2B2 were set to PMID: 31775018
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: man2b2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications
Inga Nartisa (researcher)gene: MAN2B2 was added gene: MAN2B2 was added to Primary immunodeficiency. Sources: Other Mode of inheritance for gene: MAN2B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN2B2 were set to PMID: 31775018 Review for gene: MAN2B2 was set to GREEN