Genomics England
GMS Panels
Panels
Genes and Entities

MAN2B1

mannosidase alpha class 2B member 1
OMIM: 609458
PanelMode of inheritanceDetails
9 panels
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 6.6
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 5.48
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LYSOSOMAL ALPHA-MANNOSIDOSIS 248500
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 5.0
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 8.134
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mannosidosis, alpha-, types I and II, 248500, LYSOSOMAL ALPHA-MANNOSIDOSIS (AM)
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 7.13
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 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mannosidosis, alpha-, types I and II, OMIM:248500
Green
in Retinal disorders
R-numbers: R32
Signed-off version 7.8
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mannosidosis, alpha-, types I and II, OMIM:248500, alpha-mannosidosis, MONDO:0009561
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.26
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mannosidosis, alpha-, types I and II 248500