Genomics England
GMS Panels
Panels
Genes and Entities
CYP4V2
cytochrome P450 family 4 subfamily V member 2
OMIM:
608614
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Panel
Mode of inheritance
Details
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in
Retinal disorders
R-numbers:
R32
Signed-off version 6.16
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bietti crystalline corneoretinal dystrophy, 210370, Eye Disorders, Retinitis pigmentosa