Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Neutropenia, severe congenital 4, autosomal recessive

OMIM:612541
Mode of inheritance:Autosomal recessive
Disease classification:Disorders involving the immune mechanism


Mutations

Gene SymbolG6PC3
Reference transcriptNM_138387.3
DNA Changec.257delA
A.A. Changep.Glu86GlyfsX31
Exon/Intronexon 2
Mutation Typedeletion
ReferenceArostegui JI, de Toledo JS, Pascal M, Garcia C, Yague J, Diaz de Heredia C.A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia.
Blood. 2009 Aug 20;114(8):1718-9.