Activity
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| Fetal anomalies v6.29 | MAN2B2 | Arina Puzriakova reviewed gene: MAN2B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.28 | MAN2B2 | Sarah Graham commented on gene: MAN2B2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.24 | MAN2B2 | Sarah Graham reviewed gene: MAN2B2: Rating: AMBER; Mode of pathogenicity: ; Publications: 38622837, 35637269, 31775018; Phenotypes: Congenital disorder of glycosylation type 1EE with or without immunodeficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v6.21 | MAN2B2 |
Arina Puzriakova gene: MAN2B2 was added gene: MAN2B2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: MAN2B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN2B2 were set to 35637269; 31775018; 38622837 Phenotypes for gene: MAN2B2 were set to Congenital disorder of glycosylation type 1EE with or without immunodeficiency |
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