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| Likely inborn error of metabolism - targeted testing not possible v5.3 | GPIHBP1 | Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: GPIHBP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v5.3 | GPIHBP1 | Sarah Leigh commented on gene: GPIHBP1: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v5.2 | GPIHBP1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to GPIHBP1. Source NHS GMS was added to GPIHBP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism - targeted testing not possible v4.105 | GPIHBP1 | Sarah Leigh Classified gene: GPIHBP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v4.105 | GPIHBP1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v4.105 | GPIHBP1 | Sarah Leigh Gene: gpihbp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v4.104 | GPIHBP1 |
Sarah Leigh gene: GPIHBP1 was added gene: GPIHBP1 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Expert list Q4_23_promote_green tags were added to gene: GPIHBP1. Mode of inheritance for gene: GPIHBP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPIHBP1 were set to Hyperlipoproteinemia, type 1D OMIM:615947; hyperlipoproteinemia, type 1D MONDO:0014412 Review for gene: GPIHBP1 was set to GREEN Added comment: GPIHBP1 copied from Familial chylomicronaemia syndrome (FCS) panel. Maggie Williams (North Bristol NHS Trust)([email protected]): Variants in this GENE are reported as part of current diagnostic practice Sources: Expert list |
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