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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 |