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| Congenital Disorders of Glycosylation v2.0 | MAN2B2 | Gene migrated from ENSG00000013288 to ENSG00000013288 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.62 | MAN2B2 | Zornitza Stark Phenotypes for gene: MAN2B2 were changed from Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related to Congenital disorder of glycosylation type 1EE with or without immunodeficiency, MIM# 621140 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.61 | MAN2B2 | Zornitza Stark Classified gene: MAN2B2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.61 | MAN2B2 | Zornitza Stark Gene: man2b2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.61 | MAN2B2 | Zornitza Stark Classified gene: MAN2B2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.61 | MAN2B2 | Zornitza Stark Gene: man2b2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.60 | MAN2B2 | Zornitza Stark edited their review of gene: MAN2B2: Added comment: Third individual reported PMID 38622837 with compound het missense variants, supportive functional data.; Changed rating: GREEN; Changed publications: 31775018, 35637269, 38622837; Changed phenotypes: Congenital disorder of glycosylation type 1EE with or without immunodeficiency, MIM# 621140 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.54 | MAN2B2 | Bryony Thompson Phenotypes for gene: MAN2B2 were changed from ongenital disorder of glycosylation, MONDO:0015286, MAN2B2-related to Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.53 | MAN2B2 | Bryony Thompson Publications for gene: MAN2B2 were set to 31775018; 35637269 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.52 | MAN2B2 | Bryony Thompson reviewed gene: MAN2B2: Rating: AMBER; Mode of pathogenicity: None; Publications: 38622837, 35637269, 31775018; Phenotypes: Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.42 | MAN2B2 | Zornitza Stark Phenotypes for gene: MAN2B2 were changed from Congenital disorder of glycosylation; immunodeficiency to ongenital disorder of glycosylation, MONDO:0015286, MAN2B2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.41 | MAN2B2 | Zornitza Stark Publications for gene: MAN2B2 were set to 31775018 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.40 | MAN2B2 | Zornitza Stark Classified gene: MAN2B2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.40 | MAN2B2 | Zornitza Stark Gene: man2b2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.39 | MAN2B2 | Zornitza Stark edited their review of gene: MAN2B2: Added comment: 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).; Changed rating: AMBER; Changed publications: 31775018, 35637269; Changed phenotypes: Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.47 | MAN2B2 | Zornitza Stark Marked gene: MAN2B2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.47 | MAN2B2 | Zornitza Stark Gene: man2b2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.47 | MAN2B2 |
Zornitza Stark 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 Added comment: Single individual reported. Sources: Literature |
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