Genomics England
GMS Panels
Panels
Genes and Entities

MAN1B1

mannosidase alpha class 1B member 1
OMIM: 604346
PanelMode of inheritanceDetails
4 panels
Green
in Congenital disorders of glycosylation
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 4.0
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 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AUTOSOMAL RECESSIVE MENTAL RETARDATION
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
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 - 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 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MAN1B1-CDG (Disorders of protein N-glycosylation), Mental retardation, autosomal recessive 15 614202