Genomics England
GMS Panels
Panels
Genes and Entities
DTNBP1
dystrobrevin binding protein 1
OMIM:
607145
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Panel
Mode of inheritance
Details
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1 panel
Green
in
Bleeding and platelet disorders
R-numbers:
R90
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
614076 Hermansky-Pudlak syndrome 7