| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Familial chylomicronaemia syndrome (FCS) v1.21 | APOB |
Ivone Leong Tag Q3_21_NHS_review was removed from gene: APOB. Tag Q3_21_expert_review was removed from gene: APOB. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial chylomicronaemia syndrome (FCS) v1.21 | APOB | Sarah Leigh commented on gene: APOB: The rating of this gene has been updated following NHS Genomic Medicine Serviceapproval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial chylomicronaemia syndrome (FCS) v1.20 | APOB |
Ivone Leong Source Expert Review Red was added to APOB. Rating Changed from Green List (high evidence) to Red List (low evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial chylomicronaemia syndrome (FCS) v1.19 | APOB | Sarah Leigh reviewed gene: APOB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial chylomicronaemia syndrome (FCS) v1.19 | APOB |
Arina Puzriakova Tag Q3_21_NHS_review tag was added to gene: APOB. Tag Q3_21_expert_review tag was added to gene: APOB. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial chylomicronaemia syndrome (FCS) v1.16 | APOB | Ivone Leong Tag Q3_21_NHS_review was removed from gene: APOB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial chylomicronaemia syndrome (FCS) v1.16 | APOB | Ivone Leong Tag Q3_21_NHS_review tag was added to gene: APOB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial chylomicronaemia syndrome (FCS) v1.6 | APOB | Sarah Leigh 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial chylomicronaemia syndrome (FCS) v1.4 | APOB | Julie Evans commented on gene: APOB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial chylomicronaemia syndrome (FCS) v0.6 | APOB | Maggie Williams reviewed gene: APOB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial chylomicronaemia syndrome (FCS) v0.2 | APOB |
Sarah Leigh 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||