CYP7B1

cytochrome P450 family 7 subfamily B member 1
OMIM: 603711, ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green CYP7B1 in Cholestasis Level 2: Gastroenterological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bile acid synthesis defect, congenital, 3, MIM# 613812
Green CYP7B1 in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Bile acid synthesis defect, congenital, 3 MIM#613812 Spastic paraplegia 5A, autosomal recessive MIM#270800 Disorders of bile acid biosynthesis
Green CYP7B1 in Leukodystrophy Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 5A, autosomal recessive, MIM# 270800
Green CYP7B1 in Hereditary Spastic Paraplegia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 5A, autosomal recessive, MIM# 270800
Green CYP7B1 in Hereditary Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Royal Melbourne Hospital Phenotypes Childhood to adult-onset spastic paraplegia and bladder dysfunction, periventricular white matter abnormalities on MRI, one patient described with SNCV
Green CYP7B1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bile acid synthesis defect, congenital, 3, 613812 (3)
Red CYP7B1 in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Cholestasis, severe
Green CYP7B1 in Liver Failure_Paediatric Level 2: Gastroenterological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Bile acid synthesis defect, congenital, 3, MIM# 613812
Green CYP7B1 in Miscellaneous Metabolic Disorders Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Bile acid synthesis defect, congenital, 3 MIM#613812 Spastic paraplegia 5A, autosomal recessive MIM#270800 Disorders of bile acid biosynthesis
Green CYP7B1 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bile acid synthesis defect, congenital, 3, 613812 (3) Spastic paraplegia 5A, 270800 (3)
Green CYP7B1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene Phenotypes Bile acid synthesis defect, congenital, 3, MIM# 613812 Tags treatable liver
Green CYP7B1 in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Bile acid synthesis defect, congenital, 3, MIM#613812 Spastic paraplegia 5A, MIM#270800