Genomics England

MAN2B1

mannosidase alpha class 2B member 1

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mannosidosis alpha- types I and II
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes LYSOSOMAL ALPHA-MANNOSIDOSIS 248500
Green in Hydrocephalus R-numbers: R86 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mannosidosis, alpha-, types I and II, OMIM:248500
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mannosidosis, alpha-, types I and II, 248500, LYSOSOMAL ALPHA-MANNOSIDOSIS (AM)
Green in Likely inborn error of metabolism - targeted testing not possible Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 4.78	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mannosidosis, alpha-, types I and II
Green in Lysosomal storage disorder R-numbers: R276 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mannosidosis, alpha-, types I and II OMIM:248500, alpha-mannosidosis MONDO:0009561
Green in Rare syndromic craniosynostosis or isolated multisuture synostosis R-numbers: R100 Signed-off version 4.177	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mannosidosis, alpha-, types I and II, OMIM:248500
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 4.31	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mannosidosis, alpha-, types I and II 248500