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Familial chylomicronaemia syndrome (FCS) v2.3 | APOA5 | Achchuthan Shanmugasundram Tag Q3_21_MOI was removed from gene: APOA5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial chylomicronaemia syndrome (FCS) v2.3 | APOA5 | Achchuthan Shanmugasundram commented on gene: APOA5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial chylomicronaemia syndrome (FCS) v2.2 | APOA5 | Achchuthan Shanmugasundram Mode of inheritance for gene APOA5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial chylomicronaemia syndrome (FCS) v1.19 | APOA5 | Sarah Leigh commented on gene: APOA5: The Q3_21_MOI tag has been added to this gene as the MOI should be changed to - BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial chylomicronaemia syndrome (FCS) v1.19 | APOA5 | Sarah Leigh Tag Q3_21_MOI tag was added to gene: APOA5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial chylomicronaemia syndrome (FCS) v1.19 | APOA5 | Sarah Leigh reviewed gene: APOA5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial chylomicronaemia syndrome (FCS) v1.19 | APOA5 | Sarah Leigh Publications for gene: APOA5 were set to 27604308; 12417525; 27678447; 16200213 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial chylomicronaemia syndrome (FCS) v1.18 | APOA5 | Sarah Leigh Phenotypes for gene: APOA5 were changed from Hyperchylomicronemia, late-onset OMIM:144650; hyperlipoproteinemia type V MONDO:0007762 to Hyperchylomicronemia, late-onset OMIM:144650; hyperlipoproteinemia type V MONDO:0007762; {Hypertriglyceridemia, susceptibility to} OMIM:145750; hypertriglyceridemia, familial MONDO:0007788 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial chylomicronaemia syndrome (FCS) v1.17 | APOA5 | Sarah Leigh Publications for gene: APOA5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial chylomicronaemia syndrome (FCS) v1.5 | APOA5 | Sarah Leigh Phenotypes for gene: APOA5 were changed from Hyperchylomicronemia, late-onset 144650 to Hyperchylomicronemia, late-onset OMIM:144650; hyperlipoproteinemia type V MONDO:0007762 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial chylomicronaemia syndrome (FCS) v0.6 | APOA5 | Maggie Williams reviewed gene: APOA5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Familial chylomicronaemia syndrome (FCS) v0.2 | APOA5 |
Sarah Leigh gene: APOA5 was added gene: APOA5 was added to Lipoprotein lipase deficiency. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: APOA5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: APOA5 were set to Hyperchylomicronemia, late-onset 144650 |