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Gene: CYP7B1

Green List (high evidence)

CYP7B1 (cytochrome P450 family 7 subfamily B member 1)
EnsemblGeneIds (GRCh38): ENSG00000172817
EnsemblGeneIds (GRCh37): ENSG00000172817
OMIM: 603711, Gene2Phenotype
CYP7B1 is in 14 panels

1 review

Cassandra Muller (Victorian Clinical Genetics Services)

Green List (high evidence)

Bile acid synthesis defect: well-established gene-disease association, severe, neonatal onset.

Spastic paraplegia 5A: well-established gene-disease association. Variable, but can be severe and can be childhood onset.
Created: 25 Sep 2024, 4:53 a.m. | Last Modified: 25 Sep 2024, 4:53 a.m.
Panel Version: 1.322

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bile acid synthesis defect, congenital, 3, 613812 (3); Spastic paraplegia 5A, 270800 (3)

Publications

History Filter Activity

4 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: cyp7b1 has been classified as Green List (High Evidence).

4 Oct 2024, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: CYP7B1 were changed from Bile acid synthesis defect, congenital, 3, 613812 (3) to Bile acid synthesis defect, congenital, 3, 613812 (3); Spastic paraplegia 5A, 270800 (3)

4 Oct 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: CYP7B1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Bile acid synthesis defect, congenital, 3, 613812 (3) for gene: CYP7B1

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CYP7B1 was added gene: CYP7B1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP7B1 were set to Bile acid synthesis defect, congenital, 3, 613812 (3)