Genomics England
GMS Panels
Panels
Genes and Entities
FNIP1
folliculin interacting protein 1
OMIM:
610594
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Panel
Mode of inheritance
Details
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Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers:
R15
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary Immunodeficiency, Agammaglobulinemia, Hypertrophic Cardiomyopathy, Neutropenia