Familial chylomicronaemia syndrome (FCS)
Gene: APOB
The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval.Created: 14 Mar 2022, 2:10 p.m. | Last Modified: 14 Mar 2022, 2:10 p.m.
Panel Version: 1.21
The phenotypes Hypercholesterolemia, familial, 2 OMIM:144010 and Hypobetalipoproteinemia OMIM:615558 are not appropriate for the Lipoprotein lipase deficiency panel.Created: 25 Nov 2021, 5:56 p.m. | Last Modified: 25 Nov 2021, 5:56 p.m.
Panel Version: 1.19
Hi, could we remove APOB from the lipoprotein lipase deficiency panel or change it to a red gene? We have stopped including this in our analysis as there isn't sufficient evidence for an association with LPL deficiency/familial chylomicronaemia syndrome.Created: 2 Mar 2021, 9:09 a.m. | Last Modified: 2 Mar 2021, 9:09 a.m.
Panel Version: 1.4
Variants in this GENE are reported as part of current diagnostic practice
Tag Q3_21_NHS_review was removed from gene: APOB. Tag Q3_21_expert_review was removed from gene: APOB.
Source Expert Review Red was added to APOB. Rating Changed from Green List (high evidence) to Red List (low evidence)
Tag Q3_21_NHS_review tag was added to gene: APOB. Tag Q3_21_expert_review tag was added to gene: APOB.
Tag Q3_21_NHS_review was removed from gene: APOB.
Tag Q3_21_NHS_review tag was added to gene: APOB.
Phenotypes for gene: APOB were changed from Hypercholesterolemia, familial, 2 144010; Hypobetalipoproteinemia 615558 to Hypercholesterolemia, familial, 2 OMIM:144010; hypercholesterolemia, autosomal dominant, type B MONDO:0007751; Hypobetalipoproteinemia OMIM:615558; familial hypobetalipoproteinemia 1 MONDO:0014252
gene: APOB was added gene: APOB was added to Lipoprotein lipase deficiency. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: APOB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: APOB were set to Hypercholesterolemia, familial, 2 144010; Hypobetalipoproteinemia 615558