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Newborns main panel

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 13 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Other phenotypes with same MOI not included.

Additional Information: Congenital bile acid synthesis defect is included in the study. This gene also associated with Autosomal Recessive Spastic Paraplegia 5A. Homozygosity of Arg388Ter mutation has been seen in both phenotypes.
Created: 25 Sep 2024, 4:25 p.m. | Last Modified: 19 Nov 2025, 12:59 p.m.
Panel Version: 0.480
Created: 25 Sep 2024, 4:25 p.m.
Last Modified: 19 Nov 2025, 12:59 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 35387662
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

History Filter Activity

25 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: CYP7B1.

13 Sep 2024, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration was removed from gene: CYP7B1.

13 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: CYP7B1.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

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

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to CYP7B1. Added phenotypes Bile acid synthesis defect, congenital, 3 for gene: CYP7B1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to CYP7B1. Added phenotypes Bile acid synthesis defect, congenital, 3 for gene: CYP7B1 Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to CYP7B1. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

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

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: CYP7B1 was added gene: CYP7B1 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal