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  3. CYP7B1
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Liver Failure_Paediatric

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 4 unrelated families reported.
Sources: Expert list
Created: 5 Nov 2020, 8:53 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bile acid synthesis defect, congenital, 3, MIM# 613812

Publications

Created: 5 Nov 2020, 8:53 p.m.

Panel version: 0.103

History Filter Activity

5 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Nov 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CYP7B1 was added gene: CYP7B1 was added to Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP7B1 were set to 9802883; 31337596; 21567895; 24658845 Phenotypes for gene: CYP7B1 were set to Bile acid synthesis defect, congenital, 3, MIM# 613812 Review for gene: CYP7B1 was set to GREEN