Gray platelet syndrome

Disorder
OMIM #:	#139090 (Click to access OMIM database)
Disorder:	Gray platelet syndrome
Also known as:	BLEEDING DISORDER, PLATELET-TYPE, 4 BDPLT4 PLATELET ALPHA-GRANULE DEFICIENCY
Clinical
Phenotype:	mild to moderate bleeding tendency, moderate thrombocytopenia, large granular platelets, gray neutrophils, platelets have decreased alpha-granules
Seen In:	Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite
Remarks:	Autosomal recessive
Mutations
1 Unknown / Other Mennonite
Gene:	NBEAL2
Base Change:	C>G, at nucleotide 881
Amino Acid Change:	ser 294 --> term
Last updated:	2022-11-04

References
Gunay-Aygun M, Falik-Zaccai TC, Vilboux T, Zivony-Elboum Y, Gumruk F, Cetin M, Khayat M, Boerkoel CF, Kfir N, Huang Y, Maynard D, Dorward H, Berger K, Kleta R, Anikster Y, Arat M, Freiberg AS, Kehrel BE, Jurk K, Cruz P, Mullikin JC, White JG, Huizing M, Gahl WA. (2011) NBEAL2 is mutated in Gray Platelet Syndrome and is required for biogenesis of platelet alpha-granules. Nat Genet Jul 17;43(8):732-4. PubMed ID: 21765412

References

Gunay-Aygun M, Falik-Zaccai TC, Vilboux T, Zivony-Elboum Y, Gumruk F, Cetin M, Khayat M, Boerkoel CF, Kfir N, Huang Y, Maynard D, Dorward H, Berger K, Kleta R, Anikster Y, Arat M, Freiberg AS, Kehrel BE, Jurk K, Cruz P, Mullikin JC, White JG, Huizing M, Gahl WA. (2011) NBEAL2 is mutated in Gray Platelet Syndrome and is required for biogenesis of platelet alpha-granules. Nat Genet Jul 17;43(8):732-4.
PubMed ID: 21765412

Back