Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Combined Immunodeficiency v1.17 | MAN2B2 | Zornitza Stark Marked gene: MAN2B2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Combined Immunodeficiency v1.17 | MAN2B2 | Zornitza Stark Gene: man2b2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Combined Immunodeficiency v1.17 | MAN2B2 | Zornitza Stark Phenotypes for gene: MAN2B2 were changed from Combined Immune deficiency to Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related; Combined Immune deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Combined Immunodeficiency v1.16 | MAN2B2 | Zornitza Stark Classified gene: MAN2B2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Combined Immunodeficiency v1.16 | MAN2B2 | Zornitza Stark Gene: man2b2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Combined Immunodeficiency v1.15 | MAN2B2 | Zornitza Stark reviewed gene: MAN2B2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Combined Immunodeficiency v1.15 | MAN2B2 |
Peter McNaughton gene: MAN2B2 was added gene: MAN2B2 was added to Combined Immunodeficiency. Sources: Literature Mode of inheritance for gene: MAN2B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN2B2 were set to PMID: 31775018 Phenotypes for gene: MAN2B2 were set to Combined Immune deficiency Review for gene: MAN2B2 was set to RED Added comment: Single syndromic patient with combined immune deficiency Sources: Literature |