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Familial chylomicronaemia syndrome (FCS) v3.1 Catherine Snow Panel version 3.0 has been signed off on 2023-03-22
Familial chylomicronaemia syndrome (FCS) v3.0 Catherine Snow promoted panel to version 3.0
Familial chylomicronaemia syndrome (FCS) v2.5 Sarah Leigh List of related panels changed from Lipoprotein lipase deficiency;R324 to Lipoprotein lipase deficiency; R324
Familial chylomicronaemia syndrome (FCS) v2.4 Sarah Leigh Panel name changed from Lipoprotein lipase deficiency to Familial chylomicronaemia syndrome (FCS)
List of related panels changed from R324 to Lipoprotein lipase deficiency;R324
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) v2.1 Achchuthan Shanmugasundram Panel version 2.0 has been signed off on 2022-11-30
Familial chylomicronaemia syndrome (FCS) v2.0 Achchuthan Shanmugasundram promoted panel to version 2.0
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) v1.19 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) v1.16 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) v1.16 CREB3L3 Arina Puzriakova Added comment: Comment on phenotypes: CREB3L3 is now associated with a relevantly phenotype in OMIM - Hypertriglyceridemia 2, MIM# 619324
Familial chylomicronaemia syndrome (FCS) v1.16 CREB3L3 Arina Puzriakova Phenotypes for gene: CREB3L3 were changed from hypertriglyceridemia (disease) MONDO:0005347 to Hypertriglyceridemia 2, OMIM:619324; Hypertriglyceridemia (disease) MONDO:0005347
Familial chylomicronaemia syndrome (FCS) v1.15 LIPI Sarah Leigh Phenotypes for gene: LIPI were changed from hypertriglyceridemia to hypertriglyceridemia (disease) MONDO:0005347
Familial chylomicronaemia syndrome (FCS) v1.14 LPL Sarah Leigh Phenotypes for gene: LPL were changed from Lipoprotein lipase deficiency 238600; Combined hyperlipidemia, familial 144250 to Lipoprotein lipase deficiency OMIM:238600; familial lipoprotein lipase deficiency MONDO:0009387; Combined hyperlipidemia, familial OMIM:144250; hyperlipidemia, familial combined, LPL related MONDO:0007759
Familial chylomicronaemia syndrome (FCS) v1.13 LMF1 Sarah Leigh Phenotypes for gene: LMF1 were changed from Lipase deficiency, combined 246650 to Lipase deficiency, combined OMIM:246650; lipase deficiency, combined MONDO:0009527
Familial chylomicronaemia syndrome (FCS) v1.12 GPIHBP1 Sarah Leigh Phenotypes for gene: GPIHBP1 were changed from Hyperlipoproteinemia, type 1D 615947 to Hyperlipoproteinemia, type 1D OMIM:615947; hyperlipoproteinemia, type 1D MONDO:0014412
Familial chylomicronaemia syndrome (FCS) v1.11 GPD1 Sarah Leigh Phenotypes for gene: GPD1 were changed from Hypertriglyceridemia, transient infantile 614480 to Hypertriglyceridemia, transient infantile OMIM:614480; transient infantile hypertriglyceridemia and hepatosteatosis MONDO:0013771
Familial chylomicronaemia syndrome (FCS) v1.10 CREB3L3 Sarah Leigh Added comment: Comment on phenotypes: There is not an OMIM or Mondo term for monogenic dominant hypertriglyceridemia associated with CREB3L3, so MONDO:0005347 has been used as a broader term
Familial chylomicronaemia syndrome (FCS) v1.10 CREB3L3 Sarah Leigh Phenotypes for gene: CREB3L3 were changed from monogenic dominant hypertriglyceridemia associated with CREB3L3 to hypertriglyceridemia (disease) MONDO:0005347
Familial chylomicronaemia syndrome (FCS) v1.9 APOE Sarah Leigh Phenotypes for gene: APOE were changed from Hyperlipoproteinemia, type III 617347; Lipoprotein glomerulopathy 611771; Alzheimer disease-2 104310 to Hyperlipoproteinemia, type III OMIM:617347; hyperlipoproteinemia type 3 MONDO:0018473; Lipoprotein glomerulopathy OMIM:611771; lipoprotein glomerulopathy MONDO:0012725
Familial chylomicronaemia syndrome (FCS) v1.8 APOE Sarah Leigh Added comment: Comment on phenotypes: APOE variants have also been associated with Sea-blue histiocyte disease 269600 & Alzheimer disease-2 104310
Familial chylomicronaemia syndrome (FCS) v1.8 APOE Sarah Leigh Phenotypes for gene: APOE were changed from Sea-blue histiocyte disease 269600; Hyperlipoproteinemia, type III 617347; Lipoprotein glomerulopathy 611771; Alzheimer disease-2 104310 to Hyperlipoproteinemia, type III 617347; Lipoprotein glomerulopathy 611771; Alzheimer disease-2 104310
Familial chylomicronaemia syndrome (FCS) v1.7 APOC2 Sarah Leigh Phenotypes for gene: APOC2 were changed from Hyperlipoproteinemia, type Ib 207750 to Hyperlipoproteinemia, type Ib OMIM:207750
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) v1.5 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) v1.4 APOB Julie Evans commented on gene: APOB
Familial chylomicronaemia syndrome (FCS) v1.4 Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Panel version has been signed off
Familial chylomicronaemia syndrome (FCS) v1.3 Sarah Leigh Panel version has been signed off
Familial chylomicronaemia syndrome (FCS) v1.0 Sarah Leigh promoted panel to version 1.0
Familial chylomicronaemia syndrome (FCS) v0.9 Sarah Leigh List of related panels changed from to R324
Panel types changed to GMS Rare Disease; GMS signed-off
Familial chylomicronaemia syndrome (FCS) v0.8 LIPI Sarah Leigh changed review comment from: Comment on list classification: The gene / disease association has been recently been revoked on OMIM as the reclassified variant (rs11909217) is present in 1,382 of 282,752 alleles and in 8 homozygotes in the gnomAD database (Personal communication to OMIM by Ada Hamosh June 25, 2019).; to: Comment on list classification: The gene / disease association has been recently been reclassified on OMIM as the variant (rs11909217) is present in 1,382 of 282,752 alleles and in 8 homozygotes in the gnomAD database (Personal communication to OMIM by Ada Hamosh June 25, 2019).
Familial chylomicronaemia syndrome (FCS) v0.8 LIPI Sarah Leigh changed review comment from: Comment on list classification: The gene / disease association has been recently been revoked on OMIM as the reported variant (rs11909217) is present in 1,382 of 282,752 alleles and in 8 homozygotes in the gnomAD database (Personal communication to OMIM by Ada Hamosh June 25, 2019).; to: Comment on list classification: The gene / disease association has been recently been revoked on OMIM as the reclassified variant (rs11909217) is present in 1,382 of 282,752 alleles and in 8 homozygotes in the gnomAD database (Personal communication to OMIM by Ada Hamosh June 25, 2019).
Familial chylomicronaemia syndrome (FCS) v0.8 LIPI Sarah Leigh Classified gene: LIPI as Red List (low evidence)
Familial chylomicronaemia syndrome (FCS) v0.8 LIPI Sarah Leigh Added comment: Comment on list classification: The gene / disease association has been recently been revoked on OMIM as the reported variant (rs11909217) is present in 1,382 of 282,752 alleles and in 8 homozygotes in the gnomAD database (Personal communication to OMIM by Ada Hamosh June 25, 2019).
Familial chylomicronaemia syndrome (FCS) v0.8 LIPI Sarah Leigh Gene: lipi has been classified as Red List (Low Evidence).
Familial chylomicronaemia syndrome (FCS) v0.7 LIPI Sarah Leigh Classified gene: LIPI as Red List (low evidence)
Familial chylomicronaemia syndrome (FCS) v0.7 LIPI Sarah Leigh Gene: lipi has been classified as Red List (Low Evidence).
Familial chylomicronaemia syndrome (FCS) v0.6 LPL Maggie Williams reviewed gene: LPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Familial chylomicronaemia syndrome (FCS) v0.6 LMF1 Maggie Williams reviewed gene: LMF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Familial chylomicronaemia syndrome (FCS) v0.6 LIPI Maggie Williams reviewed gene: LIPI: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Familial chylomicronaemia syndrome (FCS) v0.6 GPIHBP1 Maggie Williams reviewed gene: GPIHBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Familial chylomicronaemia syndrome (FCS) v0.6 GPD1 Maggie Williams reviewed gene: GPD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Familial chylomicronaemia syndrome (FCS) v0.6 CREB3L3 Maggie Williams reviewed gene: CREB3L3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Familial chylomicronaemia syndrome (FCS) v0.6 APOE Maggie Williams reviewed gene: APOE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Familial chylomicronaemia syndrome (FCS) v0.6 APOC2 Maggie Williams reviewed gene: APOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
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) v0.6 APOA5 Maggie Williams reviewed gene: APOA5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Familial chylomicronaemia syndrome (FCS) v0.5 CREB3L3 Sarah Leigh Publications for gene: CREB3L3 were set to 29954705; 21666694; 26427795
Familial chylomicronaemia syndrome (FCS) v0.4 LMF1 Sarah Leigh Publications for gene: LMF1 were set to 30885219
Familial chylomicronaemia syndrome (FCS) v0.3 LMF1 Sarah Leigh commented on gene: LMF1
Familial chylomicronaemia syndrome (FCS) v0.3 LMF1 Sarah Leigh Publications for gene: LMF1 were set to
Familial chylomicronaemia syndrome (FCS) v0.2 LPL Sarah Leigh gene: LPL was added
gene: LPL was added to Lipoprotein lipase deficiency. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: LPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LPL were set to Lipoprotein lipase deficiency 238600; Combined hyperlipidemia, familial 144250
Familial chylomicronaemia syndrome (FCS) v0.2 LMF1 Sarah Leigh gene: LMF1 was added
gene: LMF1 was added to Lipoprotein lipase deficiency. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: LMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMF1 were set to Lipase deficiency, combined 246650
Familial chylomicronaemia syndrome (FCS) v0.2 LIPI Sarah Leigh gene: LIPI was added
gene: LIPI was added to Lipoprotein lipase deficiency. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: LIPI was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: LIPI were set to hypertriglyceridemia
Familial chylomicronaemia syndrome (FCS) v0.2 GPIHBP1 Sarah Leigh gene: GPIHBP1 was added
gene: GPIHBP1 was added to Lipoprotein lipase deficiency. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: GPIHBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPIHBP1 were set to Hyperlipoproteinemia, type 1D 615947
Familial chylomicronaemia syndrome (FCS) v0.2 GPD1 Sarah Leigh gene: GPD1 was added
gene: GPD1 was added to Lipoprotein lipase deficiency. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: GPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPD1 were set to Hypertriglyceridemia, transient infantile 614480
Familial chylomicronaemia syndrome (FCS) v0.2 CREB3L3 Sarah Leigh gene: CREB3L3 was added
gene: CREB3L3 was added to Lipoprotein lipase deficiency. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: CREB3L3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CREB3L3 were set to 29954705; 21666694; 26427795
Phenotypes for gene: CREB3L3 were set to monogenic dominant hypertriglyceridemia associated with CREB3L3
Familial chylomicronaemia syndrome (FCS) v0.2 APOE Sarah Leigh gene: APOE was added
gene: APOE was added to Lipoprotein lipase deficiency. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: APOE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: APOE were set to Sea-blue histiocyte disease 269600; Hyperlipoproteinemia, type III 617347; Lipoprotein glomerulopathy 611771; Alzheimer disease-2 104310
Familial chylomicronaemia syndrome (FCS) v0.2 APOC2 Sarah Leigh gene: APOC2 was added
gene: APOC2 was added to Lipoprotein lipase deficiency. Sources: NHS GMS,South West GLH,Expert Review Green
Mode of inheritance for gene: APOC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APOC2 were set to Hyperlipoproteinemia, type Ib 207750
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
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
Familial chylomicronaemia syndrome (FCS) v0.0 Ellen McDonagh Added Panel Lipoprotein lipase deficiency
Set panel types to: GMS Rare Disease