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| Likely inborn error of metabolism - targeted testing not possible v1.215 | PCSK9 | Sarah Leigh Added comment: Comment on mode of pathogenicity: Gain of function variants are responsible for Hypercholesterolemia, familial, 3 603776, while loss of function variants are responsible for {Low density lipoprotein cholesterol level QTL 1} 603776. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.215 | PCSK9 | Sarah Leigh Mode of pathogenicity for gene: PCSK9 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.214 | PCSK9 | Sarah Leigh Classified gene: PCSK9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.214 | PCSK9 |
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 relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 gain of function variants reported in unrelated cases of Hypercholesterolemia, familial, 3 603776 and at least 5 loss of function variants have been reported in unrelated cases of {Low density lipoprotein cholesterol level QTL 1} 603776. |
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| Likely inborn error of metabolism - targeted testing not possible v1.214 | PCSK9 | Sarah Leigh Gene: pcsk9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.214 | PCSK9 | Sarah Leigh Phenotypes for gene: PCSK9 were changed from Hypercholesterolemia, familial, 3 603776; {Low density lipoprotein cholesterol level QTL 1} 60377 to Hypercholesterolemia, familial, 3 603776; {Low density lipoprotein cholesterol level QTL 1} 603776 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.213 | PCSK9 | Sarah Leigh Publications for gene: PCSK9 were set to 27604308; 12730697; 14727179; 15772090; 15654334; 16909389 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.213 | PCSK9 | Sarah Leigh Publications for gene: PCSK9 were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.212 | PCSK9 | Sarah Leigh Added comment: Comment on phenotypes: (Inherited hypercholesterolaemias) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.212 | PCSK9 | Sarah Leigh Phenotypes for gene: PCSK9 were changed from Familial hypercholesterolaemia; Autosomal dominant hypercholesterolemia-3 (Inherited hypercholesterolaemias) to Hypercholesterolemia, familial, 3 603776; {Low density lipoprotein cholesterol level QTL 1} 60377 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | PCSK9 |
Ivone Leong Source NHS GMS was added to PCSK9. Source London North GLH was added to PCSK9. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PCSK9 |
Ellen McDonagh gene: PCSK9 was added gene: PCSK9 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: PCSK9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PCSK9 were set to 27604308 Phenotypes for gene: PCSK9 were set to Familial hypercholesterolaemia; Autosomal dominant hypercholesterolemia-3 (Inherited hypercholesterolaemias) |
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