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Primary immunodeficiency or monogenic inflammatory bowel disease v4.108 MAN2B2 Achchuthan Shanmugasundram Phenotypes for gene: MAN2B2 were changed from to congenital disorder of glycosylation, MONDO:0015286
Primary immunodeficiency or monogenic inflammatory bowel disease v4.107 MAN2B2 Achchuthan Shanmugasundram Publications for gene: MAN2B2 were set to PMID: 31775018
Primary immunodeficiency or monogenic inflammatory bowel disease v4.106 MAN2B2 Achchuthan Shanmugasundram Classified gene: MAN2B2 as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.106 MAN2B2 Achchuthan Shanmugasundram Added comment: 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.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.106 MAN2B2 Achchuthan Shanmugasundram Gene: man2b2 has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.105 MAN2B2 Achchuthan Shanmugasundram edited their review of gene: MAN2B2: Changed publications to: 31775018
Primary immunodeficiency or monogenic inflammatory bowel disease v4.105 MAN2B2 Achchuthan Shanmugasundram reviewed gene: MAN2B2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: congenital disorder of glycosylation, MONDO:0015286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v4.50 MAN2B2 Hannah Knight reviewed gene: MAN2B2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35637269; Phenotypes: Severe developmental delay, dysmorphic facial features, immune dysregulation, developmental delay, stroke; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.582 MAN2B2 Inga Nartisa 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
Added comment: Sources: Other