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Likely inborn error of metabolism - targeted testing not possible v1.267 | CYP7B1 | Sarah Leigh commented on gene: CYP7B1: Treatable tag: the only surviving patient with oxysterol 7α-hydroxylase deficiency recovered from liver failure after chenodeoxycholic acid (CDCA) treatment beginning at 3 months of age PMID: 31337596 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.267 | CYP7B1 | Sarah Leigh Tag treatable tag was added to gene: CYP7B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.267 | CYP7B1 | Sarah Leigh Publications for gene: CYP7B1 were set to 27604308; 9802883; 18252231; 19187859 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.266 | CYP7B1 | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.266 | CYP7B1 |
Sarah Leigh changed review comment from: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with phenotype in OMIM and not in Gen2Phen. At least 10 variants identified in unrelated cases of Spastic paraplegia 5A, autosomal recessive 270800 and one of these variants was also found in a case of Bile acid synthesis defect, congenital, 3 613812.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with phenotype in OMIM and not in Gen2Phen. At least 10 variants identified in unrelated cases of Spastic paraplegia 5A, autosomal recessive 270800 and one of these variants was also found in 3 unrelated cases of Bile acid synthesis defect, congenital, 3 613812, which is a more relevant phenotype for metabolic panels. |
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Likely inborn error of metabolism - targeted testing not possible v1.266 | CYP7B1 | Sarah Leigh Classified gene: CYP7B1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.266 | CYP7B1 | Sarah Leigh Gene: cyp7b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.266 | CYP7B1 | Sarah Leigh Classified gene: CYP7B1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.266 | CYP7B1 | Sarah Leigh Gene: cyp7b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.265 | CYP7B1 | Sarah Leigh changed review comment from: Comment on list classification: Although there is enough evidence for an association with Spastic paraplegia 5A, autosomal recessive 270800, only one variant has been reported in Bile acid synthesis defect, congenital, 3 613812, which is the more relevant phenotype for metabolic panels.; to: Comment on list classification: Although there is enough evidence for an association with Spastic paraplegia 5A, autosomal recessive 270800, only one variant has been reported in 3 unrelated cases of Bile acid synthesis defect, congenital, 3 613812, which is the more relevant phenotype for metabolic panels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.265 | CYP7B1 | Sarah Leigh Classified gene: CYP7B1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.265 | CYP7B1 | Sarah Leigh Added comment: Comment on list classification: Although there is enough evidence for an association with Spastic paraplegia 5A, autosomal recessive 270800, only one variant has been reported in Bile acid synthesis defect, congenital, 3 613812, which is the more relevant phenotype for metabolic panels. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.265 | CYP7B1 | Sarah Leigh Gene: cyp7b1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.101 | CYP7B1 |
Sarah Leigh changed review comment from: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with phenotype in OMIM and not in Gen2Phen. At least 10 variants identified in unrelated cases of Spastic paraplegia 5A, autosomal recessive 270800 and one of these also had Bile acid synthesis defect, congenital, 3 613812.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with phenotype in OMIM and not in Gen2Phen. At least 10 variants identified in unrelated cases of Spastic paraplegia 5A, autosomal recessive 270800 and one of these variants was also found in a case of Bile acid synthesis defect, congenital, 3 613812. |
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Likely inborn error of metabolism - targeted testing not possible v1.101 | CYP7B1 | Sarah Leigh Publications for gene: CYP7B1 were set to 27604308; 9802883 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.100 | CYP7B1 | Sarah Leigh Classified gene: CYP7B1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.100 | CYP7B1 |
Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with phenotype in OMIM and not in Gen2Phen. At least 10 variants identified in unrelated cases of Spastic paraplegia 5A, autosomal recessive 270800 and one of these also had Bile acid synthesis defect, congenital, 3 613812. |
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Likely inborn error of metabolism - targeted testing not possible v1.100 | CYP7B1 | Sarah Leigh Gene: cyp7b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.99 | CYP7B1 | Sarah Leigh Phenotypes for gene: CYP7B1 were changed from Bile acid synthesis defect, congenital, 3 to Bile acid synthesis defect, congenital, 3 613812; Spastic paraplegia 5A, autosomal recessive 270800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Likely inborn error of metabolism - targeted testing not possible v1.47 | CYP7B1 |
Ivone Leong Source NHS GMS was added to CYP7B1. Source London North GLH was added to CYP7B1. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | CYP7B1 |
Ellen McDonagh gene: CYP7B1 was added gene: CYP7B1 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP7B1 were set to 27604308; 9802883 Phenotypes for gene: CYP7B1 were set to Bile acid synthesis defect, congenital, 3 |