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| Cholestasis v1.105 | CYP7B1 | Ivone Leong Tag for-review was removed from gene: CYP7B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.105 | CYP7B1 | Ivone Leong commented on gene: CYP7B1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.104 | CYP7B1 |
Ivone Leong Source Expert Review Green was added to CYP7B1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Cholestasis v1.55 | CYP7A1 |
Ivone Leong commented on gene: CYP7A1: CYP7A1 is not associated with a relevant phenotype in OMIM or Gene2Phenotype. PMID: 9802883 describes a patient with severe cholestasis, cirrhosis, and liver synthetic failure and variants were found in CYP7B1. There were no variants found in CYP7A1. CYP7A1 is associated with Hypercholesterolemia on Orphanet. Therefore, this gene should be demoted from Green to Red. |
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| Cholestasis v1.55 | CYP7A1 | Ivone Leong changed review comment from: CYP7A1 is not associated with a relevant phenotype in OMIM or Gene2Phenotype. PMID: 9802883 describes a patient with severe cholestasis, cirrhosis, and liver synthetic failure and variants were found in CYP7B1. There were no variants found in CYP7A1. CYP7A1 is associated with Hypercholesterolemia on Orphanet.; to: CYP7A1 is not associated with a relevant phenotype in OMIM or Gene2Phenotype. PMID: 9802883 describes a patient with severe cholestasis, cirrhosis, and liver synthetic failure and variants were found in CYP7B1. There were no variants found in CYP7A1. CYP7A1 is associated with Hypercholesterolemia on Orphanet. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.55 | CYP7A1 | Ivone Leong edited their review of gene: CYP7A1: Added comment: CYP7A1 is not associated with a relevant phenotype in OMIM or Gene2Phenotype. PMID: 9802883 describes a patient with severe cholestasis, cirrhosis, and liver synthetic failure and variants were found in CYP7B1. There were no variants found in CYP7A1. CYP7A1 is associated with Hypercholesterolemia on Orphanet.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.55 | CYP7B1 | Ivone Leong Publications for gene: CYP7B1 were set to 9802883; 31337596; 30366773; 18367963 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.54 | CYP7B1 | Ivone Leong Tag for-review tag was added to gene: CYP7B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.54 | CYP7B1 | Ivone Leong Classified gene: CYP7B1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.54 | CYP7B1 |
Ivone Leong Added comment: Comment on list classification: The case described in PMID: 9802883 has already been reviewed by Ellen McDonagh (Genomics England Curator), 25 Jul 2018. Variant is CYP7B1 (R388X/R388X) and the individual is of Hispanic ancestry. PMID: 18367963 and 31337596 describe 4 unrelated cases from Taiwan who all had the same variant (R112X/R112X). PMID: 31337596 found that the allele frequency of p.R112X is 0.16% in the Taiwanese populatio, compared with the allele frequency of the worldwide population (0.014%). All 4 had neonatal cholestasis. PMID: 21567895 describes a Japanese patient with R112X/R417C with progressive cholestatic liver disease. PMID: 24658845 describes a patient from a consanguineous Pakistani family with cholestatic liver disease with R417C/R417C. There is enough evidence to support gene-disease association. This gene will be promoted to Green status at the next review. |
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| Cholestasis v1.54 | CYP7B1 | Ivone Leong Gene: cyp7b1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.53 | CYP7B1 | Ivone Leong Publications for gene: CYP7B1 were set to 9802883; 31337596; 30366773 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.52 | CYP7B1 | Ivone Leong Phenotypes for gene: CYP7B1 were changed from Bile acid synthesis defect, congenital, 3; Neonatal and Adult Cholestasis to Bile acid synthesis defect, congenital, 3, 613812; Neonatal and Adult Cholestasis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.51 | CYP7B1 | Ivone Leong Publications for gene: CYP7B1 were set to 9802883 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.16 | CYP7B1 | Zornitza Stark reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31337596, 30366773; Phenotypes: Bile acid synthesis defect, congenital, 3, MIM# 613812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.10 | CYP7B1 |
Ivone Leong Source Other was added to CYP7B1. Mode of inheritance for gene CYP7B1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bile acid synthesis defect, congenital, 3; Neonatal and Adult Cholestasis for gene: CYP7B1 Publications for gene CYP7B1 were changed from to 9802883 |
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| Cholestasis v0.4 | CYP7B1 |
Ivone Leong Source Expert Review Amber was added to CYP7B1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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| Cholestasis v0.3 | CYP7B1 | Ivone Leong reviewed gene: CYP7B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.2 | CYP7B1 |
Ivone Leong gene: CYP7B1 was added gene: CYP7B1 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: CYP7B1 was set to |
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