Genomics England

mannosidase alpha class 1B member 1

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in Congenital disorders of glycosylation Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 6.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mental retardation, autosomal recessive 15 614202, MAN1B1-CDG (Disorders of protein N-glycosylation)
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mental Retardation, Recessive, Mental retardation, autosomal recessive 15, 614202, AUTOSOMAL RECESSIVE MENTAL RETARDATION
Green in Likely inborn error of metabolism 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 6.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MAN1B1-CDG (Disorders of protein N-glycosylation), Mental retardation, autosomal recessive 15 614202