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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 |
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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) 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. |
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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) |
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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. |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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Familial chylomicronaemia syndrome (FCS) v0.0 |
Ellen McDonagh Added Panel Lipoprotein lipase deficiency Set panel types to: GMS Rare Disease |