Congenital Disorders of Glycosylation
Gene: MAN2B2
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
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: LiteratureCreated: 30 Apr 2020, 11:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related
Publications
Phenotypes for gene: MAN2B2 were changed from ongenital disorder of glycosylation, MONDO:0015286, MAN2B2-related to Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related
Publications for gene: MAN2B2 were set to 31775018; 35637269
Phenotypes for gene: MAN2B2 were changed from Congenital disorder of glycosylation; immunodeficiency to ongenital disorder of glycosylation, MONDO:0015286, MAN2B2-related
Publications for gene: MAN2B2 were set to 31775018
Gene: man2b2 has been classified as Amber List (Moderate Evidence).
Gene: man2b2 has been classified as Red List (Low Evidence).
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