CYP7B1

cytochrome P450 family 7 subfamily B member 1
OMIM: 603711
PanelMode of inheritanceDetails
5 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bile acid synthesis defect, congenital, 3, 613812, Neonatal and Adult Cholestasis
R-numbers: R60
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 5A, autosomal recessive, 270800
R-numbers: R61
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 5A, autosomal recessive, OMIM:270800
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bile acid synthesis defect, congenital, 3 613812, Spastic paraplegia 5A, autosomal recessive 270800
R-numbers: R58
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 5A, autosomal recessive, OMIM:270800