Amish, Mennonite, and Hutterite
Genetic Disorder Database

Grey platelet syndrome

Disorder
OMIM #: #139090  (Click to access OMIM database)
Disorder: Grey platelet syndrome 
Also known as: BLEEDING DISORDER, PLATELET-TYPE, 4
BDPLT4 PLATELET ALPHA-GRANULE DEFICIENCY  
Clinical
Phenotype: mild to moderate bleeding tendency, moderate thrombocytopenia, decrease/absence of platelet alpha-granules and their proteins 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Unknown / Other Mennonite  
Gene: NBEAL2
Base Change: C>G, at nucleotide 881
Amino Acid Change:
Last updated: 2019-07-04 

References
Personal communication; seen at CSC.  

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