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{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1436",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1434",
"results": [
{
"created": "2021-01-22T18:15:41.862286+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FTL was added\ngene: FTL was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service\nMode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FTL were set to 23940258; 18413574; 23421845; 19176363\nPhenotypes for gene: FTL were set to 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3; LFTD; NBIA3; 615604 L-FERRITIN DEFICIENCY; HRFTC; 606159 Neurodegeneration with brain iron accumulation 3; 600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; 600886 Hyperferritinemia-cataract syndrome; 615604 L-ferritin deficiency, dominant and recessive",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:15:41.809893+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYBRD1 was added\ngene: CYBRD1 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service\nMode of inheritance for gene: CYBRD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYBRD1 were set to 15338274; 27884173\nPhenotypes for gene: CYBRD1 were set to Iron overload; NA IRON OVERLOAD; N/A Primary iron overload",
"entity_name": "CYBRD1",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:15:41.757901+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CP was added\ngene: CP was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service\nMode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CP were set to 15338274\nPhenotypes for gene: CP were set to 604290 ACERULOPLASMINEMIA; 604290 Hemosiderosis, systemic, due to aceruloplasminemia",
"entity_name": "CP",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:15:41.705434+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BMP6 was added\ngene: BMP6 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service\nMode of inheritance for gene: BMP6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: BMP6 were set to 26582087\nPhenotypes for gene: BMP6 were set to 112266 Mild to moderate iron overload; Iron overload; NA IRON OVERLOAD",
"entity_name": "BMP6",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:15:41.652040+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP7B was added\ngene: ATP7B was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service\nMode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP7B were set to 24002824; 18210110; 27982432; 28433102; 24266916\nPhenotypes for gene: ATP7B were set to 277900 WILSON DISEASE",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:15:41.598696+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALAS2 was added\ngene: ALAS2 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service\nMode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ALAS2 were set to 24003969; 30401706; 10029606; 30098397\nPhenotypes for gene: ALAS2 were set to 300752 Protoporphyria, erythropoietic, X-linked; Sideroblastic anaemia - increased serum ferritin; 300751 Anemia, sideroblastic, 1",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:15:41.543208+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCB7 was added\ngene: ABCB7 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service\nMode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ABCB7 were set to 10196363; 30401706; 29787825\nPhenotypes for gene: ABCB7 were set to 301310 Anemia, sideroblastic, with ataxia",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:15:41.507452+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added panel Iron metabolism disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-01-22T18:13:14.630334+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MVK as ready",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:13:14.622444+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mvk has been classified as Green List (High Evidence).",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:13:12.319524+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MVK were changed from to Hyper-IgD syndrome (MIM#260920); Mevalonic aciduria (MIM#610377)",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:12:06.892837+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MVK were set to ",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2021-01-22T18:11:38.554910+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MVK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2021-01-22T17:23:47.443302+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: AKR1D1 were changed from Bile acid synthesis defect, congenital, 2 MIM#235555 to Bile acid synthesis defect, congenital, 2 MIM#235555; disorder of bile acid metabolism",
"entity_name": "AKR1D1",
"entity_type": "gene"
},
{
"created": "2021-01-22T17:23:23.422863+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: AHCY were changed from Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752 to Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752; disorder of methionine metabolism",
"entity_name": "AHCY",
"entity_type": "gene"
},
{
"created": "2021-01-22T17:22:53.407381+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ADSL were changed from Adenylosuccinase deficiency MIM#103050 to Adenylosuccinase deficiency MIM#103050; disorder of purine metabolism",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2021-01-22T17:21:55.506013+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ADA were changed from Adenosine deaminase deficiency, partial MIM#102700; Severe combined immunodeficiency due to ADA deficiency MIM#102700 to Adenosine deaminase deficiency, partial MIM#102700; Severe combined immunodeficiency due to ADA deficiency MIM#102700; disorder of purine metabolism",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2021-01-22T17:21:09.639262+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ACY1 were changed from Aminoacylase 1 deficiency MIM#609924 to Aminoacylase 1 deficiency MIM#609924; disorder of amino acid metabolism",
"entity_name": "ACY1",
"entity_type": "gene"
},
{
"created": "2021-01-22T17:17:31.698877+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ACAD8 were changed from Isobutyryl-CoA dehydrogenase deficiency MIM#611283 to Isobutyryl-CoA dehydrogenase deficiency MIM#611283; of valine metabolism",
"entity_name": "ACAD8",
"entity_type": "gene"
},
{
"created": "2021-01-22T17:17:11.502072+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ABHD5 were changed from Chanarin-Dorfman syndrome MIM#275630; neutral lipid storage disease with ichthyosis to Chanarin-Dorfman syndrome MIM#275630; neutral lipid storage disease with ichthyosis; lipid metabolism",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2021-01-22T17:16:35.997162+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ABHD12 were changed from Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674 to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674; disorder of of endocannabinoid metabolism",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2021-01-22T17:16:00.228778+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ABCD4 were changed from Methylmalonic aciduria and homocystinuria, cblJ type\tMIM#614857 to Methylmalonic aciduria and homocystinuria, cblJ type\tMIM#614857; disorder of vitamin B12 metabolism",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2021-01-22T17:07:49.507738+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: AKR1D1 as ready",
"entity_name": "AKR1D1",
"entity_type": "gene"
},
{
"created": "2021-01-22T17:07:49.497379+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: akr1d1 has been classified as Green List (High Evidence).",
"entity_name": "AKR1D1",
"entity_type": "gene"
},
{
"created": "2021-01-22T17:07:41.890160+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: AKR1D1 as Green List (high evidence)",
"entity_name": "AKR1D1",
"entity_type": "gene"
},
{
"created": "2021-01-22T17:07:41.879329+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: akr1d1 has been classified as Green List (High Evidence).",
"entity_name": "AKR1D1",
"entity_type": "gene"
},
{
"created": "2021-01-22T17:07:26.476059+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AKR1D1 was added\ngene: AKR1D1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AKR1D1 were set to 12970144; 20522910; 15030995\nPhenotypes for gene: AKR1D1 were set to Bile acid synthesis defect, congenital, 2 MIM#235555\nReview for gene: AKR1D1 was set to GREEN\ngene: AKR1D1 was marked as current diagnostic\nAdded comment: Inborn error of bile acid metabolism. At least 6 cases (with 5 variants) in 5 families reported. \nSources: NHS GMS",
"entity_name": "AKR1D1",
"entity_type": "gene"
},
{
"created": "2021-01-22T16:53:56.982558+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: AHCY as ready",
"entity_name": "AHCY",
"entity_type": "gene"
},
{
"created": "2021-01-22T16:53:56.972055+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ahcy has been classified as Green List (High Evidence).",
"entity_name": "AHCY",
"entity_type": "gene"
},
{
"created": "2021-01-22T16:53:53.474332+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: AHCY as Green List (high evidence)",
"entity_name": "AHCY",
"entity_type": "gene"
},
{
"created": "2021-01-22T16:53:53.463434+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ahcy has been classified as Green List (High Evidence).",
"entity_name": "AHCY",
"entity_type": "gene"
},
{
"created": "2021-01-22T16:53:45.166431+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AHCY was added\ngene: AHCY was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AHCY were set to 28779239; 26095522; 20852937; 15024124; 27626380\nPhenotypes for gene: AHCY were set to Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752\nReview for gene: AHCY was set to GREEN\ngene: AHCY was marked as current diagnostic\nAdded comment: S-adenosylhomocysteine hydrolase deficiency causes an inborn error in methionine metabolism. >3 cases reported with biallelic variants. Mouse model is homozygous-lethal. \nSources: NHS GMS",
"entity_name": "AHCY",
"entity_type": "gene"
},
{
"created": "2021-01-22T16:44:46.513691+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ADSL as ready",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2021-01-22T16:44:46.503556+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: adsl has been classified as Green List (High Evidence).",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2021-01-22T16:44:42.828246+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ADSL as Green List (high evidence)",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2021-01-22T16:44:42.817891+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: adsl has been classified as Green List (High Evidence).",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2021-01-22T16:44:34.807681+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ADSL was added\ngene: ADSL was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: ADSL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADSL were set to 1302001; 22180458; 18524658; 27626380\nPhenotypes for gene: ADSL were set to Adenylosuccinase deficiency MIM#103050\nReview for gene: ADSL was set to GREEN\ngene: ADSL was marked as current diagnostic\nAdded comment: Adenylosuccinase deficiency is an autosomal recessive inborn error of purine metabolism caused by an enzymatic defect in de novo purine synthesis (DNPS) pathway. Well-established gene-disease association (see OMIM). Knockout mouse model is homozygous lethal. \nSources: NHS GMS",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2021-01-22T16:39:14.469482+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ADA as ready",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2021-01-22T16:39:14.458659+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ada has been classified as Green List (High Evidence).",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2021-01-22T16:35:44.817404+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ADA as Green List (high evidence)",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2021-01-22T16:35:44.806846+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ada has been classified as Green List (High Evidence).",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2021-01-22T16:31:55.230168+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ADA was added\ngene: ADA was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADA were set to 3475710; 3684597; 2783588; 1680289\nPhenotypes for gene: ADA were set to Adenosine deaminase deficiency, partial MIM#102700; Severe combined immunodeficiency due to ADA deficiency MIM#102700\nReview for gene: ADA was set to GREEN\ngene: ADA was marked as current diagnostic\nAdded comment: Well-established cause of disease (see OMIM). Biallelic variants cause an inborn error in purine metabolism. \nSources: NHS GMS",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2021-01-22T16:11:58.740582+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ACY1 as ready",
"entity_name": "ACY1",
"entity_type": "gene"
},
{
"created": "2021-01-22T16:11:58.729926+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: acy1 has been classified as Green List (High Evidence).",
"entity_name": "ACY1",
"entity_type": "gene"
},
{
"created": "2021-01-22T16:11:54.256248+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ACY1 as Green List (high evidence)",
"entity_name": "ACY1",
"entity_type": "gene"
},
{
"created": "2021-01-22T16:11:54.249035+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: acy1 has been classified as Green List (High Evidence).",
"entity_name": "ACY1",
"entity_type": "gene"
},
{
"created": "2021-01-22T16:11:44.928264+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ACY1 was added\ngene: ACY1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACY1 were set to 16465618; 17562838; 24117009\nPhenotypes for gene: ACY1 were set to Aminoacylase 1 deficiency MIM#609924\nReview for gene: ACY1 was set to GREEN\ngene: ACY1 was marked as current diagnostic\nAdded comment: Well-established inborn error of metabolism (see OMIM). Cases exhibit urinary excretion of specific N-acetyl amino acids and manifest heterogeneous clinical features including intellectual disability, motor delay, seizures, moderate to severe mental retardation, absent speech, growth delay, muscular hypotonia and autistic features. \nSources: NHS GMS",
"entity_name": "ACY1",
"entity_type": "gene"
},
{
"created": "2021-01-22T15:54:56.169496+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ACSF3 as Amber List (moderate evidence)",
"entity_name": "ACSF3",
"entity_type": "gene"
},
{
"created": "2021-01-22T15:54:56.160495+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: acsf3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ACSF3",
"entity_type": "gene"
},
{
"created": "2021-01-22T15:54:46.385083+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ACSF3 was added\ngene: ACSF3 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: ACSF3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACSF3 were set to 21841779; 30740739\nPhenotypes for gene: ACSF3 were set to Combined malonic and methylmalonic aciduria MIM#614265\nReview for gene: ACSF3 was set to AMBER\nAdded comment: ACSF3 deficiency causes combined malonic and methylmalonic aciduria, however the clinical significance of this deficiency appears uncertain. No specific or consistent pattern of clinical manifestations was identified in an unselected cohort of 25 cases identified through NBS in Quebec. \nSources: NHS GMS",
"entity_name": "ACSF3",
"entity_type": "gene"
},
{
"created": "2021-01-22T15:36:46.341719+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ACAD8 as ready",
"entity_name": "ACAD8",
"entity_type": "gene"
},
{
"created": "2021-01-22T15:36:46.334554+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: acad8 has been classified as Green List (High Evidence).",
"entity_name": "ACAD8",
"entity_type": "gene"
},
{
"created": "2021-01-22T15:36:26.613605+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ACAD8 as Green List (high evidence)",
"entity_name": "ACAD8",
"entity_type": "gene"
},
{
"created": "2021-01-22T15:36:26.603233+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: acad8 has been classified as Green List (High Evidence).",
"entity_name": "ACAD8",
"entity_type": "gene"
},
{
"created": "2021-01-22T15:36:16.846917+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ACAD8 was added\ngene: ACAD8 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: ACAD8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACAD8 were set to 12359132; 17304052\nPhenotypes for gene: ACAD8 were set to Isobutyryl-CoA dehydrogenase deficiency MIM#611283\nReview for gene: ACAD8 was set to GREEN\ngene: ACAD8 was marked as current diagnostic\nAdded comment: Inborn error of valine metabolism. Isobutyryl-CoA dehydrogenase deficiency was identified in at least 9 cases in 8 families, 6 of the cases were asymptomatic at the time of the study. \nSources: NHS GMS",
"entity_name": "ACAD8",
"entity_type": "gene"
},
{
"created": "2021-01-22T15:18:06.412545+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ABHD5 as ready",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2021-01-22T15:18:06.401673+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: abhd5 has been classified as Green List (High Evidence).",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2021-01-22T15:18:03.267502+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ABHD5 as Green List (high evidence)",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2021-01-22T15:18:03.256003+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: abhd5 has been classified as Green List (High Evidence).",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2021-01-22T15:17:54.301615+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ABHD5 was added\ngene: ABHD5 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABHD5 were set to 30795549\nPhenotypes for gene: ABHD5 were set to Chanarin-Dorfman syndrome MIM#275630; neutral lipid storage disease with ichthyosis\nReview for gene: ABHD5 was set to GREEN\ngene: ABHD5 was marked as current diagnostic\nAdded comment: Well-established disease gene (see OMIM) that is involved in lipid metabolism. \nSources: NHS GMS",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2021-01-22T15:10:36.159050+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ABHD12 as ready",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2021-01-22T15:10:36.147796+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: abhd12 has been classified as Green List (High Evidence).",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2021-01-22T15:10:33.283200+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ABHD12 as Green List (high evidence)",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2021-01-22T15:10:33.272673+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: abhd12 has been classified as Green List (High Evidence).",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2021-01-22T15:10:23.514419+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ABHD12 was added\ngene: ABHD12 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABHD12 were set to 20797687\nPhenotypes for gene: ABHD12 were set to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674\nReview for gene: ABHD12 was set to GREEN\ngene: ABHD12 was marked as current diagnostic\nAdded comment: Well-established disease gene (see OMIM). Biallelic variants cause an inborn error of endocannabinoid metabolism. \nSources: NHS GMS",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2021-01-22T14:54:32.886085+11:00",
"panel_name": "Metabolic Disorders Superpanel",
"panel_id": 3465,
"panel_version": "1.4",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Changed child panels to: Congenital Disorders of Glycosylation; Fatty Acid Oxidation Defects; Mitochondrial disease; Rhabdomyolysis; Lysosomal Storage Disorder; Glycogen Storage Diseases; Peroxisomal Disorders; Vitamin C Pathway Disorders; Porphyria; Metabolic renal disease; Miscellaneous Metabolic Disorders; Hyperlipidaemia",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-01-22T14:53:43.608971+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel status changed from internal to public",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-01-22T14:53:21.036691+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ABCD4 as Green List (high evidence)",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2021-01-22T14:53:21.026218+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: abcd4 has been classified as Green List (High Evidence).",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2021-01-22T14:53:12.533627+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ABCD4 was added\ngene: ABCD4 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABCD4 were set to 22922874; 31113616; 30651581; 28572511\nPhenotypes for gene: ABCD4 were set to Methylmalonic aciduria and homocystinuria, cblJ type\tMIM#614857\nReview for gene: ABCD4 was set to GREEN\nAdded comment: Inborn error of vitamin B12 metabolism - >3 unrelated cases and a supporting mouse model\r\nPMID: 22922874 - 2 unrelated cases with biallelic variants. Expression of wildtype ABCD4 in patient fibroblasts led to rescue of the biochemical phenotype.\r\nPMID: 30651581 - a Chinese case with a homozygous variant c.423C>G (p.Asn141Lys)\r\nPMID: 28572511 - 1 compound het case with supporting functional assays\r\nPMID: 31113616 - abcd4 null zebrafish model leads to vitamin B 12-deficiency anemia \nSources: NHS GMS",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2021-01-22T14:20:59.744794+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6108",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CREB3L3 as Amber List (moderate evidence)",
"entity_name": "CREB3L3",
"entity_type": "gene"
},
{
"created": "2021-01-22T14:20:59.737498+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6108",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: creb3l3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CREB3L3",
"entity_type": "gene"
},
{
"created": "2021-01-22T14:19:56.768652+11:00",
"panel_name": "Hyperlipidaemia",
"panel_id": 332,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CREB3L3 as ready",
"entity_name": "CREB3L3",
"entity_type": "gene"
},
{
"created": "2021-01-22T14:19:56.757162+11:00",
"panel_name": "Hyperlipidaemia",
"panel_id": 332,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: creb3l3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CREB3L3",
"entity_type": "gene"
},
{
"created": "2021-01-22T14:19:53.389403+11:00",
"panel_name": "Hyperlipidaemia",
"panel_id": 332,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CREB3L3 as Amber List (moderate evidence)",
"entity_name": "CREB3L3",
"entity_type": "gene"
},
{
"created": "2021-01-22T14:19:53.378759+11:00",
"panel_name": "Hyperlipidaemia",
"panel_id": 332,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: creb3l3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CREB3L3",
"entity_type": "gene"
},
{
"created": "2021-01-22T14:19:43.765940+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6107",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CREB3L3 was added\ngene: CREB3L3 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: CREB3L3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CREB3L3 were set to 32580631; 29954705; 27982131; 27291420; 26427795; 21666694\nPhenotypes for gene: CREB3L3 were set to Hyperlipidaemia; hypertriglyceridemia\nReview for gene: CREB3L3 was set to AMBER\nAdded comment: PMID: 26427795 - a loss of function variant (c.359delG p.K120fsX20) was identified in 2 affected adult siblings and a 13 yo normotriglyceridemic daughter of one of the siblings.\r\nPMID: 21666694 - Lipoprotein profiles of the families of 4 individuals with CREB3L3 nonsense mutations showed a significantly elevated mean plasma TG level in 11 mutation carriers compared with 5 non-carrier first-degree relatives (9.67 ± 4.70 vs. 1.66 ± 0.55 mM, P = 0.021, Wilcoxon test). 3 of those families have the same variant - Lys245GlufsTer130, which has 126 (281,946 alleles) hets in gnomAD v2.1.\r\nPMID: 32580631 - case-control analysis of nonmonogenic severe hypertriglyceridemia cases (N=265) vs normolipidemic controls (N=477), identified 5 cases with LoF variants (3 of whom had the Lys245GlufsTer130 frameshift) and none in controls. OR 20.2 (95% CI 1.11–366.1) p = 0.002, adjusted p = 0.03.\r\nThe frequency of Lys245GlufsTer130 is higher than expected for a dominant disorder, but other loss of function variants have been identified. The gene may be associated with variable penetrance. There are multiple supporting null mouse models with hyperlipidaemia. \nSources: Expert list",
"entity_name": "CREB3L3",
"entity_type": "gene"
},
{
"created": "2021-01-22T14:17:24.709121+11:00",
"panel_name": "Hyperlipidaemia",
"panel_id": 332,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: CREB3L3: Rating: AMBER; Mode of pathogenicity: None; Publications: 32580631, 29954705, 27982131, 27291420, 26427795, 21666694; Phenotypes: Hyperlipidaemia, hypertriglyceridemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CREB3L3",
"entity_type": "gene"
},
{
"created": "2021-01-22T13:12:34.822856+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6106",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GPIHBP1 as ready",
"entity_name": "GPIHBP1",
"entity_type": "gene"
},
{
"created": "2021-01-22T13:12:34.815372+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6106",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gpihbp1 has been classified as Green List (High Evidence).",
"entity_name": "GPIHBP1",
"entity_type": "gene"
},
{
"created": "2021-01-22T13:12:25.179498+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6106",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GPIHBP1 as Green List (high evidence)",
"entity_name": "GPIHBP1",
"entity_type": "gene"
},
{
"created": "2021-01-22T13:12:25.168683+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6106",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gpihbp1 has been classified as Green List (High Evidence).",
"entity_name": "GPIHBP1",
"entity_type": "gene"
},
{
"created": "2021-01-22T13:11:27.566952+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6105",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GPIHBP1 was added\ngene: GPIHBP1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: GPIHBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GPIHBP1 were set to 17883852; 19304573; 20026666; 17403372\nPhenotypes for gene: GPIHBP1 were set to Hyperlipoproteinemia, type 1D MIM#615947; familial chylomicronemia syndrome\nReview for gene: GPIHBP1 was set to GREEN\ngene: GPIHBP1 was marked as current diagnostic\nAdded comment: Well-established cause of familial chylomicronemia (see OMIM). Greater than 3 families reported and a supporting mouse model. \nSources: Expert list",
"entity_name": "GPIHBP1",
"entity_type": "gene"
},
{
"created": "2021-01-22T11:51:31.312341+11:00",
"panel_name": "Metabolic Disorders Superpanel",
"panel_id": 3465,
"panel_version": "1.1",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Changed child panels to: Congenital Disorders of Glycosylation; Fatty Acid Oxidation Defects; Mitochondrial disease; Rhabdomyolysis; Lysosomal Storage Disorder; Glycogen Storage Diseases; Peroxisomal Disorders; Porphyria; Vitamin C Pathway Disorders; Metabolic renal disease; Hyperlipidaemia",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-01-22T11:48:23.412386+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: AASS as ready",
"entity_name": "AASS",
"entity_type": "gene"
},
{
"created": "2021-01-22T11:48:23.404338+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: aass has been classified as Amber List (Moderate Evidence).",
"entity_name": "AASS",
"entity_type": "gene"
},
{
"created": "2021-01-22T11:47:34.523597+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: AASS as Amber List (moderate evidence)",
"entity_name": "AASS",
"entity_type": "gene"
},
{
"created": "2021-01-22T11:47:34.512756+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: aass has been classified as Amber List (Moderate Evidence).",
"entity_name": "AASS",
"entity_type": "gene"
},
{
"created": "2021-01-22T11:40:21.776739+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.98",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: 29047407, 26409462; Phenotypes: Hyper-IgD syndrome (MIM#260920), Mevalonic aciduria (MIM#610377); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2021-01-22T11:34:10.553425+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AASS was added\ngene: AASS was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: AASS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AASS were set to 23570448\nPhenotypes for gene: AASS were set to Hyperlysinemia, MIM# 238700",
"entity_name": "AASS",
"entity_type": "gene"
},
{
"created": "2021-01-22T11:24:17.261625+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added Panel Miscellaneous Metabolic Disorders\nSet panel types to: Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-01-22T09:28:32.510610+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGO2 were changed from Intellectual disability to Lessel-Kreienkamp syndrome (LESKRES), MIM#619149; Intellectual disability",
"entity_name": "AGO2",
"entity_type": "gene"
},
{
"created": "2021-01-22T09:28:10.901568+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AGO2: Changed phenotypes: Lessel-Kreienkamp syndrome (LESKRES), MIM#619149, Intellectual disability",
"entity_name": "AGO2",
"entity_type": "gene"
},
{
"created": "2021-01-22T09:27:53.135340+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGO2 were changed from Intellectual disability to Lessel-Kreienkamp syndrome (LESKRES), MIM#619149; Intellectual disability",
"entity_name": "AGO2",
"entity_type": "gene"
},
{
"created": "2021-01-22T09:27:15.121817+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AGO2: Changed phenotypes: Lessel-Kreienkamp syndrome (LESKRES), MIM#619149, Intellectual disability",
"entity_name": "AGO2",
"entity_type": "gene"
},
{
"created": "2021-01-21T21:54:52.509561+11:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-01-21T21:54:32.401349+11:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMAD4 as ready",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2021-01-21T21:54:32.394026+11:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad4 has been classified as Green List (High Evidence).",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2021-01-21T21:54:28.721349+11:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMAD4 were set to ",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2021-01-21T21:54:16.474050+11:00",
"panel_name": "Hereditary Haemorrhagic Telangiectasia",
"panel_id": 260,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16613914; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD4",
"entity_type": "gene"
}
]
}