Activity
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10 actions
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| Likely inborn error of metabolism v8.5 | MAN2B2 | Arina Puzriakova Classified gene: MAN2B2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.5 | MAN2B2 | Arina Puzriakova Added comment: Comment on list classification: There is now sufficient evidence to promote this gene to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.5 | MAN2B2 | Arina Puzriakova Gene: man2b2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.4 | MAN2B2 |
Arina Puzriakova Tag Q2_25_ promote_green tag was added to gene: MAN2B2. Tag Q2_25_ NHS_review tag was added to gene: MAN2B2. |
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| Likely inborn error of metabolism v8.4 | MAN2B2 | Arina Puzriakova reviewed gene: MAN2B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38622837; Phenotypes: Congenital disorder of glycosylation type 1EE with or without immunodeficiency, OMIM:621140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.4 | MAN2B2 | Arina Puzriakova Publications for gene: MAN2B2 were set to 31775018; 35637269 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v8.3 | MAN2B2 | Arina Puzriakova Phenotypes for gene: MAN2B2 were changed from congenital disorder of glycosylation, MONDO:0015286 to Congenital disorder of glycosylation type 1EE with or without immunodeficiency, OMIM:621140 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v7.27 | MAN2B2 | Julia Baptista reviewed gene: MAN2B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38622837, 31775018, 35637269; Phenotypes: congenital disorders of glycosylation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v4.98 | MAN2B2 | Sarah Leigh Entity copied from Congenital disorders of glycosylation v4.16 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v4.98 | MAN2B2 |
Sarah Leigh gene: MAN2B2 was added gene: MAN2B2 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Literature,Expert Review Amber Mode of inheritance for gene: MAN2B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN2B2 were set to 31775018; 35637269 Phenotypes for gene: MAN2B2 were set to congenital disorder of glycosylation, MONDO:0015286 |
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