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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1704",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1702",
"results": [
{
"created": "2020-07-29T16:36:26.934626+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TTN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:35:11.357144+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.115",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: FHOD3 as ready",
"entity_name": "FHOD3",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:35:11.345754+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.115",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: fhod3 has been classified as Green List (High Evidence).",
"entity_name": "FHOD3",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:34:55.269738+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTPN11 were changed from Noonan syndrome 1 MIM# 163950 to Noonan syndrome 1 MIM# 163950",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:34:54.392555+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.114",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: FHOD3.",
"entity_name": "FHOD3",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:34:45.495043+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTPN11 as ready",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:34:45.484336+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptpn11 has been classified as Red List (Low Evidence).",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:34:41.221699+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTPN11 were changed from to Noonan syndrome 1 MIM# 163950",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:34:23.593467+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.114",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: FHOD3 as Green List (high evidence)",
"entity_name": "FHOD3",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:34:23.582960+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.114",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: fhod3 has been classified as Green List (High Evidence).",
"entity_name": "FHOD3",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:33:55.123338+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTPN11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:33:30.187484+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTPN11 as Red List (low evidence)",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:33:30.177332+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptpn11 has been classified as Red List (Low Evidence).",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:33:14.168905+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3561",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: OBSCN was added\ngene: OBSCN was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: OBSCN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: OBSCN were set to 30681346; 26573135; 17716621; 25173926; 28630914\nPhenotypes for gene: OBSCN were set to Hypertrophic cardiomyopathy\nReview for gene: OBSCN was set to RED\ngene: OBSCN was marked as current diagnostic\nAdded comment: Limited evidence by ClinGen working group.\r\n\r\nVia ClinGen: 8 probands in 3 publications but only 3 probands from 1 publication were though to have pathogenic variants (others were excluded based on population frequency and expert review).\r\n\r\nNo additional case reports were found. A mouse model lends some support to the association of this gene with heart disease although not HCM specifically. \nSources: Literature",
"entity_name": "OBSCN",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:33:05.100798+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.111",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "OBSCN",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:32:58.042659+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.111",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "commented on gene: OBSCN: Limited evidence by ClinGen working group.\r\n\r\nVia ClinGen: 8 probands in 3 publications but only 3 probands from 1 publication were though to have pathogenic variants (others were excluded based on population frequency and expert review).\r\n\r\nNo additional case reports were found. A mouse model lends some support to the association of this gene with heart disease although not HCM specifically.",
"entity_name": "OBSCN",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:32:39.059454+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAF1 as ready",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:32:39.047958+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: raf1 has been classified as Red List (Low Evidence).",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:32:34.260631+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAF1 were changed from to Cardiomyopathy, dilated, 1NN MIM#615916; Noonan syndrome 5 MIM#611553",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:32:10.787322+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAF1 were set to ",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:31:41.777503+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:31:28.696928+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:31:07.889646+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAF1 as Red List (low evidence)",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:31:07.881650+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: raf1 has been classified as Red List (Low Evidence).",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:30:23.344479+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3561",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: PDLIM3: Changed rating: RED",
"entity_name": "PDLIM3",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:29:19.956969+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OBSCN as ready",
"entity_name": "OBSCN",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:29:19.949243+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: obscn has been classified as Red List (Low Evidence).",
"entity_name": "OBSCN",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:29:14.814359+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OBSCN as Red List (low evidence)",
"entity_name": "OBSCN",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:29:14.803798+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: obscn has been classified as Red List (Low Evidence).",
"entity_name": "OBSCN",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:29:10.442016+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3561",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: PDLIM3 was added\ngene: PDLIM3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PDLIM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PDLIM3 were set to 30681346; 26455666; 20801532\nPhenotypes for gene: PDLIM3 were set to Hypertrophic cardiomyopathy\nPenetrance for gene: PDLIM3 were set to unknown\nAdded comment: PMID: 30681346;\r\nLIMITED by ClinGen working group\r\n\r\nPMID: 26455666;\r\n1x proband with multi-exon deletion\r\n\r\nPMID: 20801532;\r\n1x proband het for a missense \nSources: Literature",
"entity_name": "PDLIM3",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:25:35.129784+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDLIM3 as ready",
"entity_name": "PDLIM3",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:25:35.119470+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdlim3 has been classified as Red List (Low Evidence).",
"entity_name": "PDLIM3",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:25:31.486742+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDLIM3 as Red List (low evidence)",
"entity_name": "PDLIM3",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:25:31.476911+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdlim3 has been classified as Red List (Low Evidence).",
"entity_name": "PDLIM3",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:24:50.665415+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3561",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: TRIM63 was added\ngene: TRIM63 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TRIM63 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRIM63 were set to 30681346; 32451364\nPhenotypes for gene: TRIM63 were set to Hypertrophic cardiomyopathy\nPenetrance for gene: TRIM63 were set to unknown\nReview for gene: TRIM63 was set to GREEN\nAdded comment: PMID: 30681346;\r\nLIMITED by Clingen working group (last evaluated 2018)\r\n\r\nPMID: 32451364\r\n- 16 index cases with rare homozygous or compound heterozygous variants (15 HCM and one restrictive cardiomyopathy). None of these variants have homozygote counts in gnomAD.\r\n- segregated in 3 families\r\n- 1 index had another pathogenic truncating variant in MYBPC3\r\n- 5 missense and 3 PTCs\r\n- Familial evaluation showed that only homozygous and compound heterozygous had signs of disease, whereas all heterozygous family members were healthy \nSources: Literature",
"entity_name": "TRIM63",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:23:59.770512+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RYR2 as ready",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:23:59.766771+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Gene is associated with CPVT phenotype.",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:23:59.736708+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ryr2 has been classified as Red List (Low Evidence).",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:23:44.760684+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RYR2 as Red List (low evidence)",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:23:44.751731+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ryr2 has been classified as Red List (Low Evidence).",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:23:31.438720+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RYR2 as Amber List (moderate evidence)",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:23:31.427288+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ryr2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:22:06.126022+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYPN as ready",
"entity_name": "MYPN",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:22:06.114338+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mypn has been classified as Red List (Low Evidence).",
"entity_name": "MYPN",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:22:03.214150+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYPN as Red List (low evidence)",
"entity_name": "MYPN",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:22:03.196660+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mypn has been classified as Red List (Low Evidence).",
"entity_name": "MYPN",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:20:57.189120+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIM63 as ready",
"entity_name": "TRIM63",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:20:57.178137+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trim63 has been classified as Green List (High Evidence).",
"entity_name": "TRIM63",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:20:50.357164+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRIM63 as Green List (high evidence)",
"entity_name": "TRIM63",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:20:50.349186+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trim63 has been classified as Green List (High Evidence).",
"entity_name": "TRIM63",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:20:46.696058+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3561",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: MYOZ2: Rating: RED; Mode of pathogenicity: None; Publications: 17347475, 18591919, 28296734, 30681346, 22987565; Phenotypes: Cardiomyopathy, hypertrophic, 16 MIM#613838; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "MYOZ2",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:19:33.905231+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYOZ2 as ready",
"entity_name": "MYOZ2",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:19:33.894828+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myoz2 has been classified as Red List (Low Evidence).",
"entity_name": "MYOZ2",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:19:30.764861+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYOZ2 were changed from to Cardiomyopathy, hypertrophic, 16 MIM#613838",
"entity_name": "MYOZ2",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:19:14.051955+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYOZ2 were set to ",
"entity_name": "MYOZ2",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:18:57.905005+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYOZ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYOZ2",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:18:33.478911+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYOZ2 as Red List (low evidence)",
"entity_name": "MYOZ2",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:18:33.470584+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myoz2 has been classified as Red List (Low Evidence).",
"entity_name": "MYOZ2",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:17:31.657375+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3561",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "edited their review of gene: KLF10: Changed rating: RED",
"entity_name": "KLF10",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:17:05.583715+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3561",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: KLF10 was added\ngene: KLF10 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KLF10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KLF10 were set to 22234868\nPhenotypes for gene: KLF10 were set to HCM\ngene: KLF10 was marked as current diagnostic\nAdded comment: Curated by ClinGen and rated as limited evidence.\r\n\r\nMisssense mutations reported in six unrelated individuals patients (two males/four females), with family history of HCM only reported for one individual (PMID: 22234868). No further reports in the literature. \nSources: Literature",
"entity_name": "KLF10",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:16:54.333796+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JPH2 as ready",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:16:54.330098+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Note one of the variants p.Gly505Ser is present in >500 individuals in gnomad, including 7 homozygotes.",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:16:54.299717+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jph2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:16:51.578445+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: JPH2 were changed from to Cardiomyopathy, hypertrophic, MIM#613873",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:16:30.465768+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: JPH2 were set to ",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:16:10.729678+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: JPH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:15:16.554598+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: JPH2 as Amber List (moderate evidence)",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:15:16.544399+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jph2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:11:56.656861+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLF10 as ready",
"entity_name": "KLF10",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:11:56.645847+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klf10 has been classified as Red List (Low Evidence).",
"entity_name": "KLF10",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:11:51.164956+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KLF10 as Red List (low evidence)",
"entity_name": "KLF10",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:11:51.157588+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klf10 has been classified as Red List (Low Evidence).",
"entity_name": "KLF10",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:10:51.556966+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNNC1 as ready",
"entity_name": "TNNC1",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:10:51.547794+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnnc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TNNC1",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:10:47.921220+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNNC1 were changed from to Cardiomyopathy, hypertrophic, 13 (MIM# 613243)",
"entity_name": "TNNC1",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:10:29.982435+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TNNC1 were set to ",
"entity_name": "TNNC1",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:09:59.094925+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TNNC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TNNC1",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:09:39.605781+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TNNC1 as Amber List (moderate evidence)",
"entity_name": "TNNC1",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:09:39.595594+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnnc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TNNC1",
"entity_type": "gene"
},
{
"created": "2020-07-29T16:00:03.764694+10:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.58",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "ATP2A1",
"entity_type": "gene"
},
{
"created": "2020-07-29T15:37:24.780962+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.89",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PRKAG2: Rating: RED; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: PRKAG2-cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2020-07-29T15:28:06.656642+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.89",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: PLN: Rating: AMBER; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2020-07-29T15:22:08.899825+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.89",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: LAMP2: Rating: RED; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: Danon disease (MIM#300257); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2020-07-29T14:46:32.226251+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.89",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: TTR: Rating: AMBER; Mode of pathogenicity: None; Publications: 28475415, 31554435; Phenotypes: Amyloidosis, hereditary, transthyretin-related MIM#105210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2020-07-29T14:44:10.034900+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.89",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GLA: Rating: RED; Mode of pathogenicity: None; Publications: 30681346; Phenotypes: Fabry disease (MIM# 301500); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2020-07-29T14:30:33.371214+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.89",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "edited their review of gene: GAA: Set current diagnostic: yes",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2020-07-29T14:30:27.728552+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.89",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: GAA: Rating: RED; Mode of pathogenicity: None; Publications: 27142047; Phenotypes: Glycogen storage disease II MIM#232300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2020-07-29T14:21:29.300146+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.89",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: FXN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Friedreich ataxia MIM#229300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2020-07-29T14:03:00.269806+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FLAD1 as ready",
"entity_name": "FLAD1",
"entity_type": "gene"
},
{
"created": "2020-07-29T14:03:00.259251+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flad1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FLAD1",
"entity_type": "gene"
},
{
"created": "2020-07-29T14:02:55.908311+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FLAD1 as Amber List (moderate evidence)",
"entity_name": "FLAD1",
"entity_type": "gene"
},
{
"created": "2020-07-29T14:02:55.899841+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flad1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FLAD1",
"entity_type": "gene"
},
{
"created": "2020-07-29T14:01:42.999095+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FLAD1 was added\ngene: FLAD1 was added to Fatty Acid Oxidation Defects. Sources: Expert list\nMode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FLAD1 were set to 25058219; 27259049; 16643857; 20060505\nPhenotypes for gene: FLAD1 were set to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, MIM#\t255100\nReview for gene: FLAD1 was set to AMBER\nAdded comment: Classified as moderate by ClinGen. The classification for FLAD1 was based on eight cases from the literature harbouring mostly frameshift variants in exons 1 or 2, biochemical studies and in vitro studies. Many of the frameshift variants in FLAD1 were predicted to be loss-of-function. However, Olsen et al. noted that homozygous loss-of-function variants in FLAD1 would be unlikely as FLAD1 encodes the only known enzyme to catalyze the synthesis of flavin adenine dinucleotide (FAD) from flavin mononucleotide (FMN), an essential metabolic process. This led the authors to discover previously unknown isoforms that were residually expressed in these patients. Therefore, ClinGen downgraded points for each of these variants to the default points for non-loss-of-function variants, resulting in the 'Moderate' assessment. \nSources: Expert list",
"entity_name": "FLAD1",
"entity_type": "gene"
},
{
"created": "2020-07-29T13:45:22.772654+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ECHS1 as ready",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2020-07-29T13:45:22.763875+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: echs1 has been classified as Green List (High Evidence).",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2020-07-29T13:45:13.882717+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ECHS1 as Green List (high evidence)",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2020-07-29T13:45:13.870790+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: echs1 has been classified as Green List (High Evidence).",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2020-07-29T13:44:47.170506+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ECHS1 was added\ngene: ECHS1 was added to Fatty Acid Oxidation Defects. Sources: Expert list\nMode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ECHS1 were set to 31399326; 25125611; 25393721\nPhenotypes for gene: ECHS1 were set to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM#\t616277\nReview for gene: ECHS1 was set to GREEN\nAdded comment: Assessed as Definitive by the ClinGen FAOD working group. \nSources: Expert list",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2020-07-29T13:34:22.213124+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACAT1 as ready",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2020-07-29T13:34:22.209099+10:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Definitive by ClinGen.",
"entity_name": "ACAT1",
"entity_type": "gene"
}
]
}