MAN2B2

mannosidase alpha class 2B member 2
Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber MAN2B2 in Congenital disorders of glycosylation Level 2: Metabolic Version 7.13 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation type 1EE with or without immunodeficiency, OMIM:621140 Tags Q2_25_ promote_green Q2_25_ NHS_review
Amber MAN2B2 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Congenital disorder of glycosylation type 1EE with or without immunodeficiency, OMIM:621140
Amber MAN2B2 in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation type 1EE with or without immunodeficiency, OMIM:621140 Tags Q2_25_ promote_green Q2_25_ NHS_review
Amber MAN2B2 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Congenital disorder of glycosylation type 1EE with or without immunodeficiency