Genomics England
GMS Panels
Panels
Genes and Entities
CYP7A1
cytochrome P450 family 7 subfamily A member 1
OMIM:
118455
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Panel
Mode of inheritance
Details
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1 panel
Green
in
Cholestasis
R-numbers:
R171
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bile acid synthesis defect, congenital, 3, Neonatal and Adult Cholestasis