Genomics England
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Genes and Entities
STAT6
signal transducer and activator of transcription 6
OMIM:
601512
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Mode of inheritance
Details
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Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers:
R15
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections, OMIM:620532