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| Familial hypercholesterolaemia v0.27 |
Zornitza Stark HPO terms changed from to Abnormal circulating cholesterol concentration, HP:0003107 List of related panels changed from to Abnormal circulating cholesterol concentration; HP:0003107 |
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| Familial hypercholesterolaemia v0.25 | APOB | Zornitza Stark Tag treatable tag was added to gene: APOB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.25 | ABCG5 |
Zornitza Stark Tag treatable tag was added to gene: ABCG5. Tag clinical trial tag was added to gene: ABCG5. |
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| Familial hypercholesterolaemia v0.25 | APOE | Zornitza Stark Marked gene: APOE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.25 | APOE | Zornitza Stark Gene: apoe has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.25 | APOE | Zornitza Stark Phenotypes for gene: APOE were changed from to Hyperlipoproteinemia, type III (MIM#617347); Sea-blue histiocyte disease (MIM#269600) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.24 | APOE | Zornitza Stark Publications for gene: APOE were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.23 | APOE | Zornitza Stark Mode of inheritance for gene: APOE was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.22 | APOE |
Lucy Spencer changed review comment from: PMID: 27014949- The leu167del variant has also been associated with hypercholesterolaemia, it only has 3 hets 0 homs in v2. It has been seen to segregate in several families with ADH PMID: 34058468 also lists many more variants have been previously reported and associated with a range of dyslipoproteinemias in table 1. Arg163Cys was seen to segregate in a het mother with raised LDL cholesterol and in her homozygote son who had even higher LDL cholesterol. Leu167del and 2 other missense variant have also been seen to segregate in families with familial combined hyperlipidemia. There is also a lot of talk in the literature about the 3 main alleles of APOE- E3 is wild type with Cys130 (previously 112) and Arg176 (previously 158) (PMID: 33679311). The E2 allele (with the Arg176Cys variant) has been associated with hyperlipoproteinemia, type III when homozygous, but it seems to be essentially only a risk factor and only causes disease in the presence of other environmental/genetic risk factors (PMID: 34058468). E2 is also a protective factor against Alzheimer’s. E4 is a risk factor for alzhiemers disease and has the Cys130Arg variant, it is also associated with increased LDL cholesterol levels and thus associated with cardiovascular disease risk (PMID: 34058468). However it is worth noting that the Arg176Cys variant has 10,066 hets and 465 homs in gnomad v2, and Cys130Arg has 24,455 hets and 2091 homs. Therefore it seems like there are some risk factor variant in APOE that are very high in the population, but also some genuine variants with reasonable population counts that are associated with a range of hypercholesterolaemias/dyslipoproteinemias.; to: PMID: 27014949- The leu167del variant has also been associated with hypercholesterolaemia, it only has 3 hets 0 homs in v2. It has been seen to segregate in several families with autosomal dominant hypercholesterolemia. PMID: 34058468 also lists many more variants have been previously reported and associated with a range of dyslipoproteinemias in table 1. Arg163Cys was seen to segregate in a het mother with raised LDL cholesterol and in her homozygote son who had even higher LDL cholesterol. Leu167del and 2 other missense variant have also been seen to segregate in families with familial combined hyperlipidemia. There is also a lot of talk in the literature about the 3 main alleles of APOE- E3 is wild type with Cys130 (previously 112) and Arg176 (previously 158) (PMID: 33679311). The E2 allele (with the Arg176Cys variant) has been associated with hyperlipoproteinemia, type III when homozygous, but it seems to be essentially only a risk factor and only causes disease in the presence of other environmental/genetic risk factors (PMID: 34058468). E2 is also a protective factor against Alzheimer’s. E4 is a risk factor for alzhiemers disease and has the Cys130Arg variant, it is also associated with increased LDL cholesterol levels and thus associated with cardiovascular disease risk (PMID: 34058468). However it is worth noting that the Arg176Cys variant has 10,066 hets and 465 homs in gnomad v2, and Cys130Arg has 24,455 hets and 2091 homs. Therefore it seems like there are some risk factor variant in APOE that are very high in the population, but also some genuine variants with reasonable population counts that are associated with a range of hypercholesterolaemias/dyslipoproteinemias. |
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| Familial hypercholesterolaemia v0.22 | APOE | Lucy Spencer reviewed gene: APOE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27014949, 34058468, 33679311; Phenotypes: Hyperlipoproteinemia, type III (MIM#617347), Sea-blue histiocyte disease (MIM#269600); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.22 | LDLRAP1 | Zornitza Stark Publications for gene: LDLRAP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.21 | LDLRAP1 | Zornitza Stark reviewed gene: LDLRAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 4351242; Phenotypes: Hypercholesterolemia, familial, 4, MIM# 603813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.21 | LDLRAP1 | Alison Yeung Phenotypes for gene: LDLRAP1 were changed from Hypercholesterolemia, familial, 4, MIM# 603813 to Hypercholesterolemia, familial, 4, MIM# 603813 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.20 | LDLRAP1 | Alison Yeung Phenotypes for gene: LDLRAP1 were changed from Hypercholesterolemia, familial, 4, MIM# 603813 to Hypercholesterolemia, familial, 4, MIM# 603813 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.20 | LDLRAP1 | Alison Yeung Phenotypes for gene: LDLRAP1 were changed from to Hypercholesterolemia, familial, 4, MIM# 603813 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.19 | LDLRAP1 | Alison Yeung Mode of inheritance for gene: LDLRAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.18 | LDLRAP1 | Alison Yeung Marked gene: LDLRAP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.18 | LDLRAP1 | Alison Yeung Gene: ldlrap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.18 | ABCG5 | Zornitza Stark Marked gene: ABCG5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.18 | ABCG5 | Zornitza Stark Gene: abcg5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.18 | ABCG5 | Zornitza Stark Phenotypes for gene: ABCG5 were changed from to Sitosterolaemia 2, MIM# 618666 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.17 | ABCG5 | Zornitza Stark Publications for gene: ABCG5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.16 | ABCG5 | Zornitza Stark Mode of inheritance for gene: ABCG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.15 | ABCG5 | Zornitza Stark reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 34304999, 33907061, 32546081, 23556150; Phenotypes: Sitosterolaemia 2, MIM# 618666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.14 | LDLR | Zornitza Stark Marked gene: LDLR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.14 | LDLR | Zornitza Stark Gene: ldlr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.14 | LDLR | Zornitza Stark Phenotypes for gene: LDLR were changed from to Hypercholesterolemia, familial, 1 143890 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.13 | LDLR | Zornitza Stark Publications for gene: LDLR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.12 | LDLR | Zornitza Stark Mode of inheritance for gene: LDLR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.11 | LDLR | Elena Savva reviewed gene: LDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10978268; Phenotypes: Hypercholesterolemia, familial, 1 143890; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.11 | CAV3 | Zornitza Stark Marked gene: CAV3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.11 | CAV3 | Zornitza Stark Gene: cav3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.11 | CAV3 | Zornitza Stark Publications for gene: CAV3 were set to PMID: 32004987; 28807458 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.10 | CAV3 | Zornitza Stark Classified gene: CAV3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.10 | CAV3 | Zornitza Stark Gene: cav3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.9 | CAV3 |
Elena Savva gene: CAV3 was added gene: CAV3 was added to Familial hypercholesterolaemia. Sources: Literature Mode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CAV3 were set to PMID: 32004987; 28807458 Phenotypes for gene: CAV3 were set to Myopathy, distal, Tateyama type 614321; Rippling muscle disease 2 606072 Review for gene: CAV3 was set to AMBER Added comment: PMID: 32004987 - 1 family (2 siblings) with elevated creatine kinase, myalgia and hypercholesterolemia. Onset was ~30 years old. PMID: 28807458 - 1 patient with rippling muscle disease, who remains asymptomatic at 45 years old. Patient also had high LDL and CK levels and therefore hyperlipidemia. Summary: 2 patients reported Sources: Literature |
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| Familial hypercholesterolaemia v0.8 | Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.7 | Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.6 |
Zornitza Stark Panel name changed from Familial hypercholesterolaemia_VCGS to Familial hypercholesterolaemia Panel types changed to Victorian Clinical Genetics Services |
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| Familial hypercholesterolaemia v0.5 | SLC25A13 | Zornitza Stark Marked gene: SLC25A13 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.5 | SLC25A13 | Zornitza Stark Gene: slc25a13 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.5 | SLC25A13 | Zornitza Stark Phenotypes for gene: SLC25A13 were changed from to Citrullinemia, adult-onset type II, MIM#603471; Citrullinemia, type II, neonatal-onset, MIM#605814 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.4 | SLC25A13 | Zornitza Stark Mode of inheritance for gene: SLC25A13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.3 | SLC25A13 | Zornitza Stark Classified gene: SLC25A13 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.3 | SLC25A13 | Zornitza Stark Gene: slc25a13 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.2 | SLC25A13 | Zornitza Stark reviewed gene: SLC25A13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Citrullinemia, adult-onset type II, MIM#603471, Citrullinemia, type II, neonatal-onset, MIM#605814; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.2 | LPL | Zornitza Stark Marked gene: LPL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.2 | LPL | Zornitza Stark Gene: lpl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.2 | LPL | Zornitza Stark Phenotypes for gene: LPL were changed from to Combined hyperlipidemia, familial, MIM# 144250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.1 | LPL | Zornitza Stark Mode of inheritance for gene: LPL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.0 | LPL | Zornitza Stark reviewed gene: LPL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined hyperlipidemia, familial, MIM# 144250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypercholesterolaemia v0.0 | SLC25A13 |
Zornitza Stark gene: SLC25A13 was added gene: SLC25A13 was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC25A13 was set to Unknown |
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| Familial hypercholesterolaemia v0.0 | PCSK9 |
Zornitza Stark gene: PCSK9 was added gene: PCSK9 was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PCSK9 was set to Unknown |
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| Familial hypercholesterolaemia v0.0 | LPL |
Zornitza Stark gene: LPL was added gene: LPL was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LPL was set to Unknown |
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| Familial hypercholesterolaemia v0.0 | LIPA |
Zornitza Stark gene: LIPA was added gene: LIPA was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LIPA was set to Unknown |
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| Familial hypercholesterolaemia v0.0 | LDLRAP1 |
Zornitza Stark gene: LDLRAP1 was added gene: LDLRAP1 was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LDLRAP1 was set to Unknown |
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| Familial hypercholesterolaemia v0.0 | LDLR |
Zornitza Stark gene: LDLR was added gene: LDLR was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LDLR was set to Unknown |
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| Familial hypercholesterolaemia v0.0 | CYP27A1 |
Zornitza Stark gene: CYP27A1 was added gene: CYP27A1 was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CYP27A1 was set to Unknown |
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| Familial hypercholesterolaemia v0.0 | APOE |
Zornitza Stark gene: APOE was added gene: APOE was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: APOE was set to Unknown |
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| Familial hypercholesterolaemia v0.0 | APOB |
Zornitza Stark gene: APOB was added gene: APOB was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: APOB was set to Unknown |
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| Familial hypercholesterolaemia v0.0 | ABCG8 |
Zornitza Stark gene: ABCG8 was added gene: ABCG8 was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ABCG8 was set to Unknown |
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| Familial hypercholesterolaemia v0.0 | ABCG5 |
Zornitza Stark gene: ABCG5 was added gene: ABCG5 was added to Familial hypercholesterolaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ABCG5 was set to Unknown |
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| Familial hypercholesterolaemia v0.0 | Zornitza Stark Added panel Familial hypercholesterolaemia_VCGS | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||