Genomics England
GMS Panels
Panels
Genes and Entities

MAN2C1

mannosidase alpha class 2C member 1
OMIM: 154580
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MAN2C1-associated neurodevelopmental disorder with cerebral malformations
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of deglycosylation 2, OMIM:619775