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{
"count": 220263,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1414",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1412",
"results": [
{
"created": "2021-02-09T13:39:41.343225+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6308",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Benign clinical phenotype",
"entity_name": "SCARB1",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:39:41.319703+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6308",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: scarb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SCARB1",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:39:14.946945+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6307",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: SCARB1: Rating: ; Mode of pathogenicity: None; Publications: 21226579, 30720493, 21480869, 26965621, 27604308; Phenotypes: High density lipoprotein cholesterol level QTL6 MIM#610762, Scavenger receptor class B type I deficiency, Inherited hypolipidaemias; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SCARB1",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:37:57.945029+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6307",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CETP as ready",
"entity_name": "CETP",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:37:57.934322+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6307",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cetp has been classified as Amber List (Moderate Evidence).",
"entity_name": "CETP",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:37:18.702332+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6307",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: CETP were changed from to Hyperalphalipoproteinemia MIM#143470; Disorders of high density lipoprotein metabolism",
"entity_name": "CETP",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:36:50.871748+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6306",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: CETP were set to ",
"entity_name": "CETP",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:36:36.215403+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6305",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: CETP was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CETP",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:36:18.941412+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6304",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CETP as Amber List (moderate evidence)",
"entity_name": "CETP",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:36:18.936656+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6304",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Benign metabolic condition",
"entity_name": "CETP",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:36:18.913311+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6304",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cetp has been classified as Amber List (Moderate Evidence).",
"entity_name": "CETP",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:35:53.441948+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6303",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: CETP: Rating: ; Mode of pathogenicity: None; Publications: 12070157, 2586614, 27604308, 2215607, 2390095; Phenotypes: Hyperalphalipoproteinemia MIM#143470, Disorders of high density lipoprotein metabolism; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CETP",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:32:35.818937+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6303",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: DMGDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DMGDH",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:31:33.139861+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6302",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DMGDH as Amber List (moderate evidence)",
"entity_name": "DMGDH",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:31:33.130833+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6302",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dmgdh has been classified as Amber List (Moderate Evidence).",
"entity_name": "DMGDH",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:31:16.155689+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6301",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: DMGDH: Changed rating: AMBER",
"entity_name": "DMGDH",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:30:59.077286+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6301",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: DMGDH: Rating: ; Mode of pathogenicity: None; Publications: 11231903, 18937046, 28881522, 27604308; Phenotypes: Dimethylglycine dehydrogenase deficiency MIM#605850, Disorders and variants of other enzymes that oxidise xenobiotics; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DMGDH",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:29:36.210369+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6301",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CD320 as ready",
"entity_name": "CD320",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:29:36.201312+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6301",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cd320 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CD320",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:29:18.888945+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6301",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: CD320 were changed from to Methylmalonic aciduria, transient, due to transcobalamin receptor defect MIM#613646; Disorders of cobalamin absorption, transport and metabolism",
"entity_name": "CD320",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:28:52.256438+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6300",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: CD320 were set to ",
"entity_name": "CD320",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:28:31.365308+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6299",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CD320 as Amber List (moderate evidence)",
"entity_name": "CD320",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:28:31.362026+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6299",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Benign clinical condition",
"entity_name": "CD320",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:28:31.344616+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6299",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cd320 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CD320",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:28:09.208534+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6298",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: CD320: Rating: ; Mode of pathogenicity: None; Publications: 29663633, 27604308, 30303736; Phenotypes: Methylmalonic aciduria, transient, due to transcobalamin receptor defect MIM#613646, Disorders of cobalamin absorption, transport and metabolism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD320",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:25:14.785192+11:00",
"panel_name": "Metabolic Disorders Superpanel",
"panel_id": 3465,
"panel_version": "2.1",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel status changed from internal to public",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-02-09T13:23:59.330048+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-02-09T13:18:13.784515+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.343",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:ADAR from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-02-09T13:05:24.233916+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.342",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SLC27A5 as ready",
"entity_name": "SLC27A5",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:05:24.223719+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.342",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc27a5 has been classified as Red List (Low Evidence).",
"entity_name": "SLC27A5",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:05:18.642192+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.342",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC27A5 was added\ngene: SLC27A5 was added to Miscellaneous Metabolic Disorders. Sources: Literature\nMode of inheritance for gene: SLC27A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC27A5 were set to 22089923; 27604308\nPhenotypes for gene: SLC27A5 were set to Bile acid-CoA ligase deficiency; Disorders of bile acid biosynthesis\nReview for gene: SLC27A5 was set to RED\nAdded comment: 2 siblings with a bile acid phenotype in a single consanguineous family with a homozygous variant. \nSources: Literature",
"entity_name": "SLC27A5",
"entity_type": "gene"
},
{
"created": "2021-02-09T12:52:27.458870+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6298",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SHPK as ready",
"entity_name": "SHPK",
"entity_type": "gene"
},
{
"created": "2021-02-09T12:52:27.451703+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6298",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: shpk has been classified as Amber List (Moderate Evidence).",
"entity_name": "SHPK",
"entity_type": "gene"
},
{
"created": "2021-02-09T12:52:17.392604+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6298",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SHPK as Amber List (moderate evidence)",
"entity_name": "SHPK",
"entity_type": "gene"
},
{
"created": "2021-02-09T12:52:17.388869+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6298",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Likely benign disorder",
"entity_name": "SHPK",
"entity_type": "gene"
},
{
"created": "2021-02-09T12:52:17.370757+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6298",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: shpk has been classified as Amber List (Moderate Evidence).",
"entity_name": "SHPK",
"entity_type": "gene"
},
{
"created": "2021-02-09T12:51:51.392147+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6297",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SHPK was added\ngene: SHPK was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SHPK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SHPK were set to 25647543; 27604308\nPhenotypes for gene: SHPK were set to Sedoheptulokinase deficiency MIM#617213\nReview for gene: SHPK was set to AMBER\nAdded comment: 2 unrelated cases reported, with elevated excretion of erythritol and sedoheptulose, and each had a homozygous nonsense variant. The first patient presented with neonatal cholestasis, hypoglycemia, and anemia, while the second patient presented with congenital arthrogryposis multiplex, multiple contractures, and dysmorphisms. Due to inconsistency in phenotypes, likely SHPK deficiency is a benign disorder. \nSources: Literature",
"entity_name": "SHPK",
"entity_type": "gene"
},
{
"created": "2021-02-09T12:49:59.451596+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.341",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SHPK as Amber List (moderate evidence)",
"entity_name": "SHPK",
"entity_type": "gene"
},
{
"created": "2021-02-09T12:49:59.446587+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.341",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Likely benign disorder",
"entity_name": "SHPK",
"entity_type": "gene"
},
{
"created": "2021-02-09T12:49:59.419084+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.341",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: shpk has been classified as Amber List (Moderate Evidence).",
"entity_name": "SHPK",
"entity_type": "gene"
},
{
"created": "2021-02-09T12:49:39.029236+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.340",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SHPK was added\ngene: SHPK was added to Miscellaneous Metabolic Disorders. Sources: Literature\nMode of inheritance for gene: SHPK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SHPK were set to 25647543; 27604308\nPhenotypes for gene: SHPK were set to Sedoheptulokinase deficiency MIM#617213\nReview for gene: SHPK was set to AMBER\nAdded comment: 2 unrelated cases reported, with elevated excretion of erythritol and sedoheptulose, and each had a homozygous nonsense variant. The first patient presented with neonatal cholestasis, hypoglycemia, and anemia, while the second patient presented with congenital arthrogryposis multiplex, multiple contractures, and dysmorphisms. Due to inconsistency in phenotypes, likely SHPK deficiency is a benign disorder. \nSources: Literature",
"entity_name": "SHPK",
"entity_type": "gene"
},
{
"created": "2021-02-09T12:12:00.632192+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6296",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PNLIP as ready",
"entity_name": "PNLIP",
"entity_type": "gene"
},
{
"created": "2021-02-09T12:12:00.618348+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6296",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pnlip has been classified as Amber List (Moderate Evidence).",
"entity_name": "PNLIP",
"entity_type": "gene"
},
{
"created": "2021-02-09T12:11:48.658813+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6296",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PNLIP as Amber List (moderate evidence)",
"entity_name": "PNLIP",
"entity_type": "gene"
},
{
"created": "2021-02-09T12:11:48.650899+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6296",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Appears to be a clinically benign metabolic condition",
"entity_name": "PNLIP",
"entity_type": "gene"
},
{
"created": "2021-02-09T12:11:48.617286+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6296",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pnlip has been classified as Amber List (Moderate Evidence).",
"entity_name": "PNLIP",
"entity_type": "gene"
},
{
"created": "2021-02-09T12:10:49.306722+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6295",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PNLIP was added\ngene: PNLIP was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PNLIP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PNLIP were set to 31977950; 25862608; 24262094; 27604308\nPhenotypes for gene: PNLIP were set to Pancreatic lipase deficiency MIM#614338; disorders of lipid and lipoprotein metabolism\nReview for gene: PNLIP was set to GREEN\nAdded comment: 4 cases from 2 unrelated families, with supporting biochemical assays in patient cells and cellular-based assays. The cases have decreased absorption of dietary fat and greasy voluminous stools, but apparent normal development and an overall good state of health. \nSources: Literature",
"entity_name": "PNLIP",
"entity_type": "gene"
},
{
"created": "2021-02-09T12:08:44.709790+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PNLIP as ready",
"entity_name": "PNLIP",
"entity_type": "gene"
},
{
"created": "2021-02-09T12:08:44.699173+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pnlip has been classified as Amber List (Moderate Evidence).",
"entity_name": "PNLIP",
"entity_type": "gene"
},
{
"created": "2021-02-09T12:08:39.714085+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PNLIP as Amber List (moderate evidence)",
"entity_name": "PNLIP",
"entity_type": "gene"
},
{
"created": "2021-02-09T12:08:39.710310+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Appears to be a clinically benign metabolic condition",
"entity_name": "PNLIP",
"entity_type": "gene"
},
{
"created": "2021-02-09T12:08:39.692692+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pnlip has been classified as Amber List (Moderate Evidence).",
"entity_name": "PNLIP",
"entity_type": "gene"
},
{
"created": "2021-02-09T12:08:07.219366+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PNLIP was added\ngene: PNLIP was added to Dyslipidaemia. Sources: Literature\nMode of inheritance for gene: PNLIP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PNLIP were set to 31977950; 25862608; 24262094; 27604308\nPhenotypes for gene: PNLIP were set to Pancreatic lipase deficiency MIM#614338; disorders of lipid and lipoprotein metabolism\nReview for gene: PNLIP was set to GREEN\nAdded comment: 4 cases from 2 unrelated families, with supporting biochemical assays in patient cells and cellular-based assays. The cases have decreased absorption of dietary fat and greasy voluminous stools, but apparent normal development and an overall good state of health. \nSources: Literature",
"entity_name": "PNLIP",
"entity_type": "gene"
},
{
"created": "2021-02-09T11:48:36.754928+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.339",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PDXK as ready",
"entity_name": "PDXK",
"entity_type": "gene"
},
{
"created": "2021-02-09T11:48:36.747012+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.339",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pdxk has been classified as Green List (High Evidence).",
"entity_name": "PDXK",
"entity_type": "gene"
},
{
"created": "2021-02-09T11:48:28.214362+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.339",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PDXK as Green List (high evidence)",
"entity_name": "PDXK",
"entity_type": "gene"
},
{
"created": "2021-02-09T11:48:28.198682+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.339",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pdxk has been classified as Green List (High Evidence).",
"entity_name": "PDXK",
"entity_type": "gene"
},
{
"created": "2021-02-09T11:48:21.294795+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.338",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PDXK as Red List (low evidence)",
"entity_name": "PDXK",
"entity_type": "gene"
},
{
"created": "2021-02-09T11:48:21.285066+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.338",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pdxk has been classified as Red List (Low Evidence).",
"entity_name": "PDXK",
"entity_type": "gene"
},
{
"created": "2021-02-09T11:48:05.195732+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.337",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PDXK was added\ngene: PDXK was added to Miscellaneous Metabolic Disorders. Sources: Literature\nMode of inheritance for gene: PDXK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDXK were set to 32522499; 31187503; 27604308\nPhenotypes for gene: PDXK were set to Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy MIM#618511; Disorders of pyridoxine metabolism\nReview for gene: PDXK was set to GREEN\nAdded comment: 6 individuals from 3 unrelated families with biallelic variants, and supporting cellular and biochemical assays. \nSources: Literature",
"entity_name": "PDXK",
"entity_type": "gene"
},
{
"created": "2021-02-09T11:45:16.817377+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TDO2 as ready",
"entity_name": "TDO2",
"entity_type": "gene"
},
{
"created": "2021-02-09T11:45:16.808126+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tdo2 has been classified as Red List (Low Evidence).",
"entity_name": "TDO2",
"entity_type": "gene"
},
{
"created": "2021-02-09T11:45:06.460141+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TDO2 was added\ngene: TDO2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: TDO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TDO2 were set to 28285122; 27604308\nPhenotypes for gene: TDO2 were set to Hypertryptophanemia MIM#600627; Disorders of histidine, tryptophan or lysine metabolism\nReview for gene: TDO2 was set to RED\nAdded comment: Single case reported, biochemical phenotype of hypertryptophanemia and hyperserotoninemia does not appear to have significant clinical consequences \nSources: Expert list",
"entity_name": "TDO2",
"entity_type": "gene"
},
{
"created": "2021-02-09T11:11:07.945849+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.336",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DMGDH as ready",
"entity_name": "DMGDH",
"entity_type": "gene"
},
{
"created": "2021-02-09T11:11:07.935308+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.336",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dmgdh has been classified as Amber List (Moderate Evidence).",
"entity_name": "DMGDH",
"entity_type": "gene"
},
{
"created": "2021-02-09T11:11:02.643297+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.336",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DMGDH as Amber List (moderate evidence)",
"entity_name": "DMGDH",
"entity_type": "gene"
},
{
"created": "2021-02-09T11:11:02.632958+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.336",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dmgdh has been classified as Amber List (Moderate Evidence).",
"entity_name": "DMGDH",
"entity_type": "gene"
},
{
"created": "2021-02-09T11:10:52.096000+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.335",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DMGDH was added\ngene: DMGDH was added to Miscellaneous Metabolic Disorders. Sources: Literature\nMode of inheritance for gene: DMGDH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DMGDH were set to 11231903; 18937046; 28881522; 27604308\nPhenotypes for gene: DMGDH were set to Dimethylglycine dehydrogenase deficiency MIM#605850; Disorders and variants of other enzymes that oxidise xenobiotics\nReview for gene: DMGDH was set to AMBER\nAdded comment: Apparently only 2 cases with biallelic variants reported, and in vitro functional analyses the originally reported variant (H109R) \nSources: Literature",
"entity_name": "DMGDH",
"entity_type": "gene"
},
{
"created": "2021-02-09T10:31:47.245509+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SCARB1 as ready",
"entity_name": "SCARB1",
"entity_type": "gene"
},
{
"created": "2021-02-09T10:31:47.237279+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: scarb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SCARB1",
"entity_type": "gene"
},
{
"created": "2021-02-09T10:31:44.362794+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SCARB1 as Amber List (moderate evidence)",
"entity_name": "SCARB1",
"entity_type": "gene"
},
{
"created": "2021-02-09T10:31:44.357859+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Benign clinical phenotype",
"entity_name": "SCARB1",
"entity_type": "gene"
},
{
"created": "2021-02-09T10:31:44.337596+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: scarb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SCARB1",
"entity_type": "gene"
},
{
"created": "2021-02-09T10:31:26.556005+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SCARB1 was added\ngene: SCARB1 was added to Dyslipidaemia. Sources: Literature\nMode of inheritance for gene: SCARB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SCARB1 were set to 21226579; 30720493; 21480869; 26965621; 27604308\nPhenotypes for gene: SCARB1 were set to High density lipoprotein cholesterol level QTL6 MIM#610762; Scavenger receptor class B type I deficiency; Inherited hypolipidaemias\nReview for gene: SCARB1 was set to GREEN\nAdded comment: Monallelic and biallelic carriers have increased HDL cholesterol levels, but no other clinical phenotype. \nSources: Literature",
"entity_name": "SCARB1",
"entity_type": "gene"
},
{
"created": "2021-02-09T10:15:56.661901+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.334",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:MTTP from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-02-09T10:15:37.255331+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MTTP as ready",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2021-02-09T10:15:37.247492+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mttp has been classified as Green List (High Evidence).",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2021-02-09T10:15:20.007150+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MTTP as Green List (high evidence)",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2021-02-09T10:15:19.992565+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mttp has been classified as Green List (High Evidence).",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2021-02-09T10:15:06.299879+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MTTP was added\ngene: MTTP was added to Dyslipidaemia. Sources: NHS GMS\nMode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTTP were set to 27604308; 8533758; 30720493\nPhenotypes for gene: MTTP were set to Abetalipoproteinemia MIM#200100; Inherited hypolipidaemias\nReview for gene: MTTP was set to GREEN\ngene: MTTP was marked as current diagnostic\nAdded comment: Well-established gene-disease association(see OMIM entry). is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of lipid metabolism. \nSources: NHS GMS",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2021-02-09T10:13:02.978111+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: LCAT as ready",
"entity_name": "LCAT",
"entity_type": "gene"
},
{
"created": "2021-02-09T10:13:02.967521+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lcat has been classified as Green List (High Evidence).",
"entity_name": "LCAT",
"entity_type": "gene"
},
{
"created": "2021-02-09T10:12:28.780669+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: LCAT as Green List (high evidence)",
"entity_name": "LCAT",
"entity_type": "gene"
},
{
"created": "2021-02-09T10:12:28.768206+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lcat has been classified as Green List (High Evidence).",
"entity_name": "LCAT",
"entity_type": "gene"
},
{
"created": "2021-02-09T10:12:19.356217+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LCAT was added\ngene: LCAT was added to Dyslipidaemia. Sources: Literature\nMode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LCAT were set to 30720493; 6624548\nPhenotypes for gene: LCAT were set to Fish-eye disease MIM#136120; Norum disease MIM#245900; Disorders of high density lipoprotein metabolism\nReview for gene: LCAT was set to GREEN\ngene: LCAT was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). Biallelic variants cause HDL deficiency. \nSources: Literature",
"entity_name": "LCAT",
"entity_type": "gene"
},
{
"created": "2021-02-09T10:04:37.419989+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CYP27A1 as Green List (high evidence)",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2021-02-09T10:04:37.411711+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cyp27a1 has been classified as Green List (High Evidence).",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2021-02-09T10:04:28.760379+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CYP27A1 was added\ngene: CYP27A1 was added to Dyslipidaemia. Sources: Literature\nMode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP27A1 were set to 30720493; 2019602; 20301583\nPhenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis MIM#213700\nReview for gene: CYP27A1 was set to GREEN\ngene: CYP27A1 was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease, and cases have high plasma and tissue cholestanol concentration, and normal to low plasma cholesterol concentration. \nSources: Literature",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2021-02-09T09:53:54.904557+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CETP as ready",
"entity_name": "CETP",
"entity_type": "gene"
},
{
"created": "2021-02-09T09:53:54.895607+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cetp has been classified as Amber List (Moderate Evidence).",
"entity_name": "CETP",
"entity_type": "gene"
},
{
"created": "2021-02-09T09:53:49.703712+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CETP as Amber List (moderate evidence)",
"entity_name": "CETP",
"entity_type": "gene"
},
{
"created": "2021-02-09T09:53:49.697772+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Benign metabolic condition",
"entity_name": "CETP",
"entity_type": "gene"
},
{
"created": "2021-02-09T09:53:49.669598+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cetp has been classified as Amber List (Moderate Evidence).",
"entity_name": "CETP",
"entity_type": "gene"
},
{
"created": "2021-02-09T09:53:21.838682+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CETP was added\ngene: CETP was added to Dyslipidaemia. Sources: Literature\nMode of inheritance for gene: CETP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: CETP were set to 12070157; 2586614; 27604308; 2215607; 2390095\nPhenotypes for gene: CETP were set to Hyperalphalipoproteinemia MIM#143470; Disorders of high density lipoprotein metabolism\nReview for gene: CETP was set to GREEN\nAdded comment: CETP deficiency causes mildly elevated HDL-cholesterol in heterozygotes and elevated HDL-cholesterol in biallelic carriers. Variants are mostly associated with a benign phenotype. \nSources: Literature",
"entity_name": "CETP",
"entity_type": "gene"
},
{
"created": "2021-02-09T09:44:46.609930+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Hyperlipidaemia to Dyslipidaemia",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-02-09T09:13:19.692898+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.333",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CD320 as ready",
"entity_name": "CD320",
"entity_type": "gene"
},
{
"created": "2021-02-09T09:13:19.682583+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.333",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cd320 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CD320",
"entity_type": "gene"
},
{
"created": "2021-02-09T09:13:01.488213+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.333",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CD320 as Amber List (moderate evidence)",
"entity_name": "CD320",
"entity_type": "gene"
},
{
"created": "2021-02-09T09:13:01.484240+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.333",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Benign clinical condition",
"entity_name": "CD320",
"entity_type": "gene"
},
{
"created": "2021-02-09T09:13:01.465898+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.333",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cd320 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CD320",
"entity_type": "gene"
}
]
}