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{
"count": 220263,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1421",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1419",
"results": [
{
"created": "2021-02-05T20:14:09.282666+11:00",
"panel_name": "Hyperlipidaemia",
"panel_id": 332,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lipc has been classified as Green List (High Evidence).",
"entity_name": "LIPC",
"entity_type": "gene"
},
{
"created": "2021-02-05T20:13:43.992670+11:00",
"panel_name": "Hyperlipidaemia",
"panel_id": 332,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LIPC was added\ngene: LIPC was added to Hyperlipidaemia. Sources: NHS GMS\nMode of inheritance for gene: LIPC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: LIPC were set to 1671786; 12777476; 1883393; 23219720; 26423094; 22464213\nPhenotypes for gene: LIPC were set to Hepatic lipase deficiency MIM#614025; Inherited mixed hyperlipidaemias; hyperalphalipoproteinemia\nReview for gene: LIPC was set to GREEN\nAdded comment: PMID: 1671786, 12777476, 1883393 - 6 cases from 2 unrelated French Canadian families with hepatic lipase deficiency and compound heterozygous variants.\r\nPMID: 26423094 - null mouse had dyslipidemia on a high cholesterol and fat diet\r\nPMID: 23219720, 22464213 - 2 cases with hyperalphalipoproteinemia and heterozygous variants, with supporting in vitro funcitonal assays \nSources: NHS GMS",
"entity_name": "LIPC",
"entity_type": "gene"
},
{
"created": "2021-02-05T14:44:14.044795+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.201",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: LCT as ready",
"entity_name": "LCT",
"entity_type": "gene"
},
{
"created": "2021-02-05T14:44:14.032128+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.201",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lct has been classified as Green List (High Evidence).",
"entity_name": "LCT",
"entity_type": "gene"
},
{
"created": "2021-02-05T14:44:09.085541+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.201",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: LCT as Green List (high evidence)",
"entity_name": "LCT",
"entity_type": "gene"
},
{
"created": "2021-02-05T14:44:09.075276+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.201",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lct has been classified as Green List (High Evidence).",
"entity_name": "LCT",
"entity_type": "gene"
},
{
"created": "2021-02-05T14:44:01.147399+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.200",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LCT was added\ngene: LCT was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: LCT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LCT were set to 9758622; 27604308\nPhenotypes for gene: LCT were set to Lactase deficiency, congenital MIM#223000; Other carbohydrate disorders\nReview for gene: LCT was set to GREEN\ngene: LCT was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). Lactase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of carbohydrate metabolism. \nSources: NHS GMS",
"entity_name": "LCT",
"entity_type": "gene"
},
{
"created": "2021-02-05T14:40:50.619925+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.199",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: LBR as ready",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2021-02-05T14:40:50.609664+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.199",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lbr has been classified as Green List (High Evidence).",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2021-02-05T14:40:47.802337+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.199",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: LBR as Green List (high evidence)",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2021-02-05T14:40:47.793987+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.199",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lbr has been classified as Green List (High Evidence).",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2021-02-05T14:40:38.830989+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.198",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LBR was added\ngene: LBR was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: LBR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LBR were set to 12618959; 27604308\nPhenotypes for gene: LBR were set to Greenberg skeletal dysplasia MIM#215140; Disorders of sterol biosynthesis\nReview for gene: LBR was set to GREEN\ngene: LBR was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). Greenberg dysplasia is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of sterol metabolism. \nSources: NHS GMS",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2021-02-05T14:32:52.317767+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.197",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: LARS as ready",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2021-02-05T14:32:52.307537+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.197",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lars has been classified as Green List (High Evidence).",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2021-02-05T14:32:49.447312+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.197",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: LARS as Green List (high evidence)",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2021-02-05T14:32:49.439522+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.197",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lars has been classified as Green List (High Evidence).",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2021-02-05T14:32:24.853575+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.196",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LARS was added\ngene: LARS was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LARS were set to 22607940; 30349989; 28774368\nPhenotypes for gene: LARS were set to Infantile liver failure syndrome 1 MIM#615438; disorder of leucine metabolism\nReview for gene: LARS was set to GREEN\nAdded comment: 7 families reported \nSources: NHS GMS",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2021-02-05T14:21:36.261236+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.195",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KYNU as ready",
"entity_name": "KYNU",
"entity_type": "gene"
},
{
"created": "2021-02-05T14:21:36.254006+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.195",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kynu has been classified as Green List (High Evidence).",
"entity_name": "KYNU",
"entity_type": "gene"
},
{
"created": "2021-02-05T14:21:27.592299+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.195",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KYNU as Green List (high evidence)",
"entity_name": "KYNU",
"entity_type": "gene"
},
{
"created": "2021-02-05T14:21:27.579603+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.195",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kynu has been classified as Green List (High Evidence).",
"entity_name": "KYNU",
"entity_type": "gene"
},
{
"created": "2021-02-05T14:21:18.512098+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.194",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KYNU was added\ngene: KYNU was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KYNU were set to 17334708; 28792876; 31923704\nPhenotypes for gene: KYNU were set to Hydroxykynureninuria MIM#236800; Vertebral, cardiac, renal, and limb defects syndrome 2 MIM#617661; Disorders of histidine, tryptophan or lysine metabolism\nReview for gene: KYNU was set to GREEN\nAdded comment: At least 6 unrelated cases reported with biallelic variants, and a supporting null mouse model \nSources: NHS GMS",
"entity_name": "KYNU",
"entity_type": "gene"
},
{
"created": "2021-02-05T14:13:22.354485+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6221",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KL as ready",
"entity_name": "KL",
"entity_type": "gene"
},
{
"created": "2021-02-05T14:13:22.346521+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6221",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kl has been classified as Amber List (Moderate Evidence).",
"entity_name": "KL",
"entity_type": "gene"
},
{
"created": "2021-02-05T14:12:45.300083+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6221",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: KL were set to ",
"entity_name": "KL",
"entity_type": "gene"
},
{
"created": "2021-02-05T14:12:20.548790+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6220",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: KL were changed from to Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994; Hyperphosphatemia",
"entity_name": "KL",
"entity_type": "gene"
},
{
"created": "2021-02-05T14:12:00.504646+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6219",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KL as Amber List (moderate evidence)",
"entity_name": "KL",
"entity_type": "gene"
},
{
"created": "2021-02-05T14:12:00.496296+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6219",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kl has been classified as Amber List (Moderate Evidence).",
"entity_name": "KL",
"entity_type": "gene"
},
{
"created": "2021-02-05T14:11:41.054797+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6218",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: KL: Rating: AMBER; Mode of pathogenicity: None; Publications: 17710231, 31013726, 9363890; Phenotypes: Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994, Hyperphosphatemia; Mode of inheritance: None",
"entity_name": "KL",
"entity_type": "gene"
},
{
"created": "2021-02-05T13:55:29.567798+11:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: KL were set to ",
"entity_name": "KL",
"entity_type": "gene"
},
{
"created": "2021-02-05T13:54:57.305490+11:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "KL",
"entity_type": "gene"
},
{
"created": "2021-02-05T13:54:49.617278+11:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: KL: Added comment: A single case with a de novo translocation with a breakpoint adjacent to KL, markedly increasing plasma alpha-Klotho levels and beta-glucuronidase activity.; Changed publications: 18308935; Changed phenotypes: Hypophosphatemic rickets, hyperparathyroidism; Changed mode of inheritance: Unknown",
"entity_name": "KL",
"entity_type": "gene"
},
{
"created": "2021-02-05T13:35:17.091355+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.193",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ITPA as ready",
"entity_name": "ITPA",
"entity_type": "gene"
},
{
"created": "2021-02-05T13:35:17.083912+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.193",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: itpa has been classified as Green List (High Evidence).",
"entity_name": "ITPA",
"entity_type": "gene"
},
{
"created": "2021-02-05T13:35:13.991754+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.193",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ITPA as Green List (high evidence)",
"entity_name": "ITPA",
"entity_type": "gene"
},
{
"created": "2021-02-05T13:35:13.981574+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.193",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: itpa has been classified as Green List (High Evidence).",
"entity_name": "ITPA",
"entity_type": "gene"
},
{
"created": "2021-02-05T13:35:04.681787+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.192",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ITPA was added\ngene: ITPA was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: ITPA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ITPA were set to 27604308; 12384777\nPhenotypes for gene: ITPA were set to Inosine triphosphatase deficiency MIM#613850; Developmental and epileptic encephalopathy 35 MIM#616647; Disorders of purine metabolism\nReview for gene: ITPA was set to GREEN\ngene: ITPA was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). Inosine triphosphatase deficiency is considered an inborn error of purine metabolism. \nSources: NHS GMS",
"entity_name": "ITPA",
"entity_type": "gene"
},
{
"created": "2021-02-05T13:28:11.511027+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.191",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HSD3B7 as ready",
"entity_name": "HSD3B7",
"entity_type": "gene"
},
{
"created": "2021-02-05T13:28:11.500911+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.191",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hsd3b7 has been classified as Green List (High Evidence).",
"entity_name": "HSD3B7",
"entity_type": "gene"
},
{
"created": "2021-02-05T13:28:08.268091+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.191",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HSD3B7 as Green List (high evidence)",
"entity_name": "HSD3B7",
"entity_type": "gene"
},
{
"created": "2021-02-05T13:28:08.257637+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.191",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hsd3b7 has been classified as Green List (High Evidence).",
"entity_name": "HSD3B7",
"entity_type": "gene"
},
{
"created": "2021-02-05T13:28:00.096618+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.190",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HSD3B7 was added\ngene: HSD3B7 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HSD3B7 were set to 11067870; 27604308\nPhenotypes for gene: HSD3B7 were set to Bile acid synthesis defect, congenital, 1 MIM#607765; Disorders of bile acid biosynthesis\nReview for gene: HSD3B7 was set to GREEN\ngene: HSD3B7 was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). Congenital bile acid synthesis defect is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of bile acid metabolism. \nSources: NHS GMS",
"entity_name": "HSD3B7",
"entity_type": "gene"
},
{
"created": "2021-02-05T13:23:55.445198+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.189",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HS2ST1 as ready",
"entity_name": "HS2ST1",
"entity_type": "gene"
},
{
"created": "2021-02-05T13:23:55.435243+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.189",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hs2st1 has been classified as Green List (High Evidence).",
"entity_name": "HS2ST1",
"entity_type": "gene"
},
{
"created": "2021-02-05T13:23:52.218905+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.189",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HS2ST1 as Green List (high evidence)",
"entity_name": "HS2ST1",
"entity_type": "gene"
},
{
"created": "2021-02-05T13:23:52.208946+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.189",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hs2st1 has been classified as Green List (High Evidence).",
"entity_name": "HS2ST1",
"entity_type": "gene"
},
{
"created": "2021-02-05T13:23:34.689252+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.188",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HS2ST1 was added\ngene: HS2ST1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HS2ST1 were set to 33159882\nPhenotypes for gene: HS2ST1 were set to Developmental delay and corpus callosum, skeletal, and renal abnormalities; disorder of glycosaminoglycan metabolism\nReview for gene: HS2ST1 was set to GREEN\nAdded comment: 4 cases with biallelic variants from 3 unrelated families with heparan sulfate 2-O-sulfotransferase 1 deficiency in patient cells. \nSources: NHS GMS",
"entity_name": "HS2ST1",
"entity_type": "gene"
},
{
"created": "2021-02-05T13:00:33.008505+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.187",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HPD as ready",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2021-02-05T13:00:32.997759+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.187",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hpd has been classified as Green List (High Evidence).",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2021-02-05T13:00:30.213352+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.187",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HPD as Green List (high evidence)",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2021-02-05T13:00:30.202513+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.187",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hpd has been classified as Green List (High Evidence).",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2021-02-05T13:00:22.009606+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.186",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HPD was added\ngene: HPD was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: HPD were set to 10942115; 11073718; 27604308\nPhenotypes for gene: HPD were set to Hawkinsinuria MIM#140350; Tyrosinemia, type III MIM#276710; Disorders of phenylalanine or tyrosine metabolism\nReview for gene: HPD was set to GREEN\ngene: HPD was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). 4-hydroxyphenylpyruvate dioxygenase deficiencies are classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid metabolism. \nSources: NHS GMS",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2021-02-05T12:54:47.829500+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.185",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HGD as ready",
"entity_name": "HGD",
"entity_type": "gene"
},
{
"created": "2021-02-05T12:54:47.819608+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.185",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hgd has been classified as Green List (High Evidence).",
"entity_name": "HGD",
"entity_type": "gene"
},
{
"created": "2021-02-05T12:54:45.392785+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.185",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HGD as Green List (high evidence)",
"entity_name": "HGD",
"entity_type": "gene"
},
{
"created": "2021-02-05T12:54:45.385084+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.185",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hgd has been classified as Green List (High Evidence).",
"entity_name": "HGD",
"entity_type": "gene"
},
{
"created": "2021-02-05T12:54:36.629421+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.184",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HGD was added\ngene: HGD was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: HGD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HGD were set to 8782815; 27604308\nPhenotypes for gene: HGD were set to Alkaptonuria MIM#203500; Disorders of phenylalanine or tyrosine metabolism\nReview for gene: HGD was set to GREEN\ngene: HGD was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). Alkaptonuria is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid metabolism. \nSources: NHS GMS",
"entity_name": "HGD",
"entity_type": "gene"
},
{
"created": "2021-02-05T12:50:44.108101+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.183",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HCFC1 as ready",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2021-02-05T12:50:44.096990+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.183",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hcfc1 has been classified as Green List (High Evidence).",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2021-02-05T12:50:40.495627+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.183",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HCFC1 as Green List (high evidence)",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2021-02-05T12:50:40.485366+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.183",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hcfc1 has been classified as Green List (High Evidence).",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2021-02-05T12:50:29.019219+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.182",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HCFC1 was added\ngene: HCFC1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: HCFC1 were set to 24011988\nPhenotypes for gene: HCFC1 were set to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) MIM#309541; disorder of cobalamin metabolism\nReview for gene: HCFC1 was set to GREEN\ngene: HCFC1 was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). Methylmalonic acidemia and homocysteinemia is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of cobalamin metabolism. \nSources: NHS GMS",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2021-02-05T12:37:06.445875+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.181",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HAAO as ready",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2021-02-05T12:37:06.434676+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.181",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: haao has been classified as Green List (High Evidence).",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2021-02-05T12:37:01.495865+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.181",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HAAO as Green List (high evidence)",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2021-02-05T12:37:01.482509+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.181",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: haao has been classified as Green List (High Evidence).",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2021-02-05T12:36:52.230317+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.180",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HAAO was added\ngene: HAAO was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HAAO were set to 28792876\nPhenotypes for gene: HAAO were set to Vertebral, cardiac, renal, and limb defects syndrome 1 MIM#617660; NAD deficiency\nReview for gene: HAAO was set to GREEN\nAdded comment: 2 unrelated cases reported with homozygous variants from consanguineous families, and a supporting mouse model. \nSources: NHS GMS",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2021-02-05T10:59:31.537643+11:00",
"panel_name": "Metabolic Disorders Superpanel",
"panel_id": 3465,
"panel_version": "1.222",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Changed child panels to: Congenital Disorders of Glycosylation; Neurotransmitter Defects; Fatty Acid Oxidation Defects; Mitochondrial disease; Miscellaneous Metabolic Disorders; Rhabdomyolysis; Lysosomal Storage Disorder; Nephrolithiasis and Nephrocalcinosis; Glycogen Storage Diseases; Renal Abnormalities of Magnesium Metabolism; Iron metabolism disorders; Renal abnormalities of calcium and phosphate metabolism; Renal Hypertension and Disorders of Aldosterone Metabolism; Peroxisomal Disorders; Vitamin C Pathway Disorders; Metabolic renal disease; Hypomagnesaemia; Porphyria; Hyperlipidaemia; Hyperammonaemia",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-02-05T10:47:08.468463+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FTL as ready",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2021-02-05T10:47:08.455305+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ftl has been classified as Green List (High Evidence).",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2021-02-05T10:46:55.084513+11:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: None; Publications: 7493028; Phenotypes: Hyperferritinemia-cataract syndrome MIM#600886, L-ferritin deficiency, dominant and recessive MIM#615604, Neurodegeneration with brain iron accumulation 3 MIM#606159; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2021-02-05T10:39:47.580155+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6218",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GLRX2 as ready",
"entity_name": "GLRX2",
"entity_type": "gene"
},
{
"created": "2021-02-05T10:39:47.570254+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6218",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: glrx2 has been classified as Red List (Low Evidence).",
"entity_name": "GLRX2",
"entity_type": "gene"
},
{
"created": "2021-02-05T10:39:26.806043+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6218",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GLRX2 as Red List (low evidence)",
"entity_name": "GLRX2",
"entity_type": "gene"
},
{
"created": "2021-02-05T10:39:26.792725+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6218",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: glrx2 has been classified as Red List (Low Evidence).",
"entity_name": "GLRX2",
"entity_type": "gene"
},
{
"created": "2021-02-05T10:39:00.695662+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6217",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: GLRX2: Rating: RED; Mode of pathogenicity: None; Publications: 25362663; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "GLRX2",
"entity_type": "gene"
},
{
"created": "2021-02-05T10:28:00.908966+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6217",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GLRX3 as Red List (low evidence)",
"entity_name": "GLRX3",
"entity_type": "gene"
},
{
"created": "2021-02-05T10:28:00.899773+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6217",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: glrx3 has been classified as Red List (Low Evidence).",
"entity_name": "GLRX3",
"entity_type": "gene"
},
{
"created": "2021-02-05T10:27:42.447299+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6216",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: GLRX3: Rating: RED; Mode of pathogenicity: None; Publications: 23615448; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "GLRX3",
"entity_type": "gene"
},
{
"created": "2021-02-05T10:15:42.485065+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6216",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GSTO2 as ready",
"entity_name": "GSTO2",
"entity_type": "gene"
},
{
"created": "2021-02-05T10:15:42.474860+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6216",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gsto2 has been classified as Red List (Low Evidence).",
"entity_name": "GSTO2",
"entity_type": "gene"
},
{
"created": "2021-02-05T10:14:55.733812+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6216",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GSTO2 as Red List (low evidence)",
"entity_name": "GSTO2",
"entity_type": "gene"
},
{
"created": "2021-02-05T10:14:55.724007+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6216",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gsto2 has been classified as Red List (Low Evidence).",
"entity_name": "GSTO2",
"entity_type": "gene"
},
{
"created": "2021-02-05T10:14:19.943784+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6215",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: GSTO2: Rating: RED; Mode of pathogenicity: None; Publications: 12618591; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "GSTO2",
"entity_type": "gene"
},
{
"created": "2021-02-05T09:59:40.139619+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.179",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GSS as ready",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2021-02-05T09:59:40.126821+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.179",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gss has been classified as Green List (High Evidence).",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2021-02-05T09:59:34.368731+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.179",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GSS as Green List (high evidence)",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2021-02-05T09:59:34.358293+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.179",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gss has been classified as Green List (High Evidence).",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2021-02-05T09:59:25.626231+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.178",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GSS was added\ngene: GSS was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GSS were set to 8896573\nPhenotypes for gene: GSS were set to Glutathione synthetase deficiency MIM#266130; Hemolytic anemia due to glutathione synthetase deficiency MIM#231900; Disorders of the gamma-glutamyl cycle\nReview for gene: GSS was set to GREEN\ngene: GSS was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). Glutathione synthetase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid metabolism. \nSources: NHS GMS",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2021-02-05T09:54:27.707124+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.177",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GPD1 as ready",
"entity_name": "GPD1",
"entity_type": "gene"
},
{
"created": "2021-02-05T09:54:27.699792+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.177",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gpd1 has been classified as Green List (High Evidence).",
"entity_name": "GPD1",
"entity_type": "gene"
},
{
"created": "2021-02-05T09:54:23.517028+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.177",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GPD1 as Green List (high evidence)",
"entity_name": "GPD1",
"entity_type": "gene"
},
{
"created": "2021-02-05T09:54:23.509455+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.177",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gpd1 has been classified as Green List (High Evidence).",
"entity_name": "GPD1",
"entity_type": "gene"
},
{
"created": "2021-02-05T09:54:15.976633+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.176",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GPD1 was added\ngene: GPD1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: GPD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GPD1 were set to 32591995; 22226083; 33447932\nPhenotypes for gene: GPD1 were set to Hypertriglyceridemia, transient infantile MIM#614480; glycerol-3-phosphate dehydrogenase deficiency\nReview for gene: GPD1 was set to GREEN\ngene: GPD1 was marked as current diagnostic\nAdded comment: At least 17 cases reported \nSources: NHS GMS",
"entity_name": "GPD1",
"entity_type": "gene"
},
{
"created": "2021-02-05T09:33:52.530958+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.175",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GNMT as ready",
"entity_name": "GNMT",
"entity_type": "gene"
},
{
"created": "2021-02-05T09:33:52.523654+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.175",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gnmt has been classified as Green List (High Evidence).",
"entity_name": "GNMT",
"entity_type": "gene"
},
{
"created": "2021-02-05T09:33:46.684010+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.175",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GNMT as Green List (high evidence)",
"entity_name": "GNMT",
"entity_type": "gene"
},
{
"created": "2021-02-05T09:33:46.671646+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.175",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gnmt has been classified as Green List (High Evidence).",
"entity_name": "GNMT",
"entity_type": "gene"
},
{
"created": "2021-02-05T09:33:38.451864+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.174",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GNMT was added\ngene: GNMT was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: GNMT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GNMT were set to 11810299; 14739680; 17937387; 27207470\nPhenotypes for gene: GNMT were set to Glycine N-methyltransferase deficiency MIM#606664; Disorders of the metabolism of sulphur amino acids\nReview for gene: GNMT was set to GREEN\nAdded comment: Only 5 cases in 4 families reported thus far, and a supporting null mouse model. The clinical presentation of the reported cases (mild hepatomegaly and chronic elevation of the transaminase levels in the blood without liver disease) suggests a benign disorder, however hypermethioninemia is a reported risk factor for various neurological complications regardless of the cause. \nSources: NHS GMS",
"entity_name": "GNMT",
"entity_type": "gene"
},
{
"created": "2021-02-05T09:06:37.833162+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.173",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GLYCTK as ready",
"entity_name": "GLYCTK",
"entity_type": "gene"
}
]
}