Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: MAN2B2
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
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
Sources: OtherCreated: 29 Nov 2022, 8:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Phenotypes for gene: MAN2B2 were changed from to congenital disorder of glycosylation, MONDO:0015286
Publications for gene: MAN2B2 were set to PMID: 31775018
Gene: man2b2 has been classified as Red List (Low Evidence).
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