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| Likely inborn error of metabolism - targeted testing not possible v4.106 | LMF1 |
Sarah Leigh gene: LMF1 was added gene: LMF1 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Expert list Q4_23_promote_green tags were added to gene: LMF1. Mode of inheritance for gene: LMF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LMF1 were set to 17994020; 19820022; 30885219; 30420299; 29910226; 22239554 Phenotypes for gene: LMF1 were set to Lipase deficiency, combined OMIM:246650; lipase deficiency, combined MONDO:0009527 Review for gene: LMF1 was set to GREEN gene: LMF1 was marked as current diagnostic Added comment: LMF1 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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| Likely inborn error of metabolism - targeted testing not possible v2.51 | PNPLA2 |
Zornitza Stark gene: PNPLA2 was added gene: PNPLA2 was added to Inborn errors of metabolism. Sources: Expert Review Mode of inheritance for gene: PNPLA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA2 were set to 18952067; 25287355; 25956450 Phenotypes for gene: PNPLA2 were set to Neutral lipid storage disease with myopathy MIM#610717 Review for gene: PNPLA2 was set to GREEN Added comment: PLPLA2 is a triglyceride lipase and this is a lipid storage disorder. Sources: Expert Review |
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| Likely inborn error of metabolism - targeted testing not possible v1.170 | LIPC | Sarah Leigh Phenotypes for gene: LIPC were changed from {Diabetes mellitus, noninsulin-dependent} 125853; Hepatic lipase deficiency 614025; [High density lipoprotein cholesterol level QTL 12] 612797 to Hepatic lipase deficiency, 614025; [High density lipoprotein cholesterol level QTL 12] 612797; {Diabetes mellitus, noninsulin-dependent} 125853 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.169 | LIPC |
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 variants reported in two unrelated families with Hepatic lipase deficiency, 614025. |
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| Likely inborn error of metabolism - targeted testing not possible v1.168 | LIPC | Sarah Leigh Phenotypes for gene: LIPC were changed from {Diabetes mellitus, noninsulin-dependent} 125853; Hepatic lipase deficiency (Inherited mixed hyperlipidaemias); Hepatic lipase deficiency, 614025; [High density lipoprotein cholesterol level QTL 12] 612797 to {Diabetes mellitus, noninsulin-dependent} 125853; Hepatic lipase deficiency 614025; [High density lipoprotein cholesterol level QTL 12] 612797 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | LIPA |
Ivone Leong Source NHS GMS was added to LIPA. Source London North GLH was added to LIPA. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | CLPS |
Ellen McDonagh gene: CLPS was added gene: CLPS was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: CLPS was set to Unknown Publications for gene: CLPS were set to 27604308 Phenotypes for gene: CLPS were set to Pancreatic colipase deficiency (Other disorders of lipid and lipoprotein metabolism) |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | LPL |
Ellen McDonagh gene: LPL was added gene: LPL was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LPL were set to 27604308 Phenotypes for gene: LPL were set to Lipoprotein lipase deficiency, 238600; Combined hyperlipidemia, familial, 144250; Familial lipoprotein lipase deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias) |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | PNLIP |
Ellen McDonagh gene: PNLIP was added gene: PNLIP was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PNLIP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNLIP were set to 27604308 Phenotypes for gene: PNLIP were set to Pancreatic triacylglycerol lipase deficiency (Other disorders of lipid and lipoprotein metabolism); Pancreatic lipase deficiency 614338 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | LIPC |
Ellen McDonagh gene: LIPC was added gene: LIPC was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: LIPC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPC were set to 27604308 Phenotypes for gene: LIPC were set to {Diabetes mellitus, noninsulin-dependent} 125853; Hepatic lipase deficiency (Inherited mixed hyperlipidaemias); Hepatic lipase deficiency, 614025; [High density lipoprotein cholesterol level QTL 12] 612797 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | LIPA |
Ellen McDonagh gene: LIPA was added gene: LIPA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPA were set to 27604308 Phenotypes for gene: LIPA were set to Cholesteryl ester storage disease |
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