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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1699",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1697",
"results": [
{
"created": "2020-07-30T20:27:09.151556+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:26:59.506685+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-1, MIM# 191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:26:32.843600+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPM1 as ready",
"entity_name": "TPM1",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:26:32.831822+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpm1 has been classified as Green List (High Evidence).",
"entity_name": "TPM1",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:26:30.142651+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TPM1 were changed from to Cardiomyopathy, dilated, 1Y, MIM# 611878; Cardiomyopathy, hypertrophic, 3, MIM# 115196; Left ventricular noncompaction 9, MIM# 611878",
"entity_name": "TPM1",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:26:17.426917+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TPM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TPM1",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:25:59.229236+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1Y, MIM# 611878, Cardiomyopathy, hypertrophic, 3, MIM# 115196, Left ventricular noncompaction 9, MIM# 611878; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TPM1",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:24:57.172350+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TP53 as ready",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:24:57.164167+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tp53 has been classified as Green List (High Evidence).",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:24:54.767361+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TP53 were changed from to Li-Fraumeni syndrome, MIM# 151623",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:24:42.953459+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TP53 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:24:33.548644+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Li-Fraumeni syndrome, MIM# 151623; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:23:53.475133+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNNT2 as ready",
"entity_name": "TNNT2",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:23:53.467041+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnnt2 has been classified as Green List (High Evidence).",
"entity_name": "TNNT2",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:23:46.882469+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNNT2 were changed from to Cardiomyopathy, dilated, 1D, MIM# 601494; Cardiomyopathy, familial restrictive, 3, MIM# 612422; Cardiomyopathy, hypertrophic, 2, MIM# 115195; Left ventricular noncompaction 6, MIM# 601494",
"entity_name": "TNNT2",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:23:36.781322+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TNNT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TNNT2",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:23:26.699723+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1D, MIM# 601494, Cardiomyopathy, familial restrictive, 3, MIM# 612422, Cardiomyopathy, hypertrophic, 2, MIM# 115195, Left ventricular noncompaction 6, MIM# 601494; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TNNT2",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:22:18.035595+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNNI3 as ready",
"entity_name": "TNNI3",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:22:18.025152+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnni3 has been classified as Green List (High Evidence).",
"entity_name": "TNNI3",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:22:16.044300+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNNI3 were changed from to Cardiomyopathy, dilated, 1FF, MIM# 613286; Cardiomyopathy, familial restrictive, MIM#1 115210; Cardiomyopathy, hypertrophic, 7 , MIM#613690",
"entity_name": "TNNI3",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:22:09.252837+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TNNI3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TNNI3",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:21:58.281274+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1FF, MIM# 613286, Cardiomyopathy, familial restrictive, MIM#1 115210, Cardiomyopathy, hypertrophic, 7 , MIM#613690; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TNNI3",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:19:07.526141+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM43 as ready",
"entity_name": "TMEM43",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:19:07.515199+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem43 has been classified as Green List (High Evidence).",
"entity_name": "TMEM43",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:19:02.149536+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM43 were changed from to Arrhythmogenic right ventricular dysplasia 5, MIM# 604400",
"entity_name": "TMEM43",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:18:48.882559+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM43 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TMEM43",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:18:35.345880+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM43: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 5, MIM# 604400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TMEM43",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:18:08.021394+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGFBR2 as ready",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:18:08.010900+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgfbr2 has been classified as Green List (High Evidence).",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:18:05.640356+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TGFBR2 were changed from to Loeys-Dietz syndrome 2, MIM# 610168",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:17:58.904034+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TGFBR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:17:48.787298+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 2, MIM# 610168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:17:16.655018+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGFBR1 as ready",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:17:16.643928+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgfbr1 has been classified as Green List (High Evidence).",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:17:10.506399+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TGFBR1 were changed from to Loeys-Dietz syndrome 1, MIM# 609192",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:17:02.453213+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TGFBR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:16:53.194577+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 1, MIM# 609192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:16:26.162741+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STK11 as ready",
"entity_name": "STK11",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:16:26.154030+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stk11 has been classified as Green List (High Evidence).",
"entity_name": "STK11",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:16:23.179803+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STK11 were changed from to Peutz-Jeghers syndrome, MIM# 175200",
"entity_name": "STK11",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:16:16.008686+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: STK11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STK11",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:16:06.267362+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peutz-Jeghers syndrome, MIM# 175200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STK11",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:15:33.011541+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMAD4 as ready",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:15:32.999480+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad4 has been classified as Green List (High Evidence).",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:15:30.963056+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMAD4 were changed from to vJuvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:15:16.767960+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMAD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:15:07.743837+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:14:27.333059+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMAD3 as ready",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:14:27.324124+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad3 has been classified as Green List (High Evidence).",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:14:25.493157+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMAD3 were changed from to Loeys-Dietz syndrome 3, MIM# 613795",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:14:18.644438+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMAD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:14:07.300084+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 3, MIM# 613795; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:13:04.711436+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SDHD as ready",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:13:04.702654+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sdhd has been classified as Green List (High Evidence).",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:13:02.719677+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SDHD were changed from to Paragangliomas 1, with or without deafness, MIM# 168000; Pheochromocytoma, MIM# 171300",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:12:51.109898+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SDHD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:12:42.002455+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SDHD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 1, with or without deafness, MIM# 168000, Pheochromocytoma, MIM# 171300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:11:50.886273+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SDHC as ready",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:11:50.877419+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sdhc has been classified as Green List (High Evidence).",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:11:47.915783+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SDHC were changed from to Paragangliomas 3, MIM# 605373",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:11:40.190663+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SDHC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:11:30.677151+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SDHC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 3, MIM# 605373; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:06:59.816033+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PKD1L1 as ready",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:06:59.806608+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkd1l1 has been classified as Green List (High Evidence).",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:06:50.207682+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PKD1L1 were changed from to Heterotaxy, visceral, 8, autosomal (MIM#617205)",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:06:35.160913+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PKD1L1 were set to ",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:06:19.621599+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PKD1L1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:06:01.734523+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PKD1L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27616478, 30664273, 20080492, 31026592; Phenotypes: Heterotaxy, visceral, 8, autosomal (MIM#617205); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:03:45.588508+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PKD1L1 as ready",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:03:45.584241+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Additional family reported, promote to Green.",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:03:45.549532+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkd1l1 has been classified as Green List (High Evidence).",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:03:29.364811+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PKD1L1 were changed from Heterotaxy, visceral, 8, autosomal (MIM#617205) to Heterotaxy, visceral, 8, autosomal (MIM#617205); heterotaxy and congenital heart disease without pulmonary ciliary dyskinesia",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:03:08.067768+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PKD1L1 were set to 27616478; 30664273; 20080492",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:02:40.558436+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PKD1L1 as Green List (high evidence)",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:02:40.548502+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkd1l1 has been classified as Green List (High Evidence).",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:01:04.349814+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SDHB as ready",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:01:04.341743+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sdhb has been classified as Green List (High Evidence).",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:01:01.282937+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SDHB were changed from to Paragangliomas 4, MIM# 115310",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:00:46.319328+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SDHB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2020-07-30T20:00:35.900777+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 4, MIM# 115310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2020-07-30T19:59:50.007160+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SDHAF2 as ready",
"entity_name": "SDHAF2",
"entity_type": "gene"
},
{
"created": "2020-07-30T19:59:49.993931+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sdhaf2 has been classified as Green List (High Evidence).",
"entity_name": "SDHAF2",
"entity_type": "gene"
},
{
"created": "2020-07-30T19:59:38.939568+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SDHAF2 were changed from to Paragangliomas 2, MIM# 601650",
"entity_name": "SDHAF2",
"entity_type": "gene"
},
{
"created": "2020-07-30T19:59:27.749956+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SDHAF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SDHAF2",
"entity_type": "gene"
},
{
"created": "2020-07-30T19:59:17.161285+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SDHAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 2, MIM# 601650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SDHAF2",
"entity_type": "gene"
},
{
"created": "2020-07-30T19:58:49.261157+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN5A as ready",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2020-07-30T19:58:49.252646+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn5a has been classified as Green List (High Evidence).",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2020-07-30T19:58:46.527094+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN5A were changed from to Atrial fibrillation, familial, 10, MIM# 614022; Brugada syndrome 1, MIM# 601144 AD 3 Cardiomyopathy, dilated, 1E 601154 AD 3 Heart block, nonprogressive, MIM# 113900; Heart block, progressive, type IA, MIM# 113900; Long QT syndrome 3, MIM# 603830",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2020-07-30T19:58:36.184870+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2020-07-30T19:58:25.946136+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial fibrillation, familial, 10, MIM# 614022, Brugada syndrome 1, MIM# 601144 AD 3 Cardiomyopathy, dilated, 1E 601154 AD 3 Heart block, nonprogressive, MIM# 113900, Heart block, progressive, type IA, MIM# 113900, Long QT syndrome 3, MIM# 603830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2020-07-30T19:54:54.078268+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RYR2 as ready",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-07-30T19:54:54.067826+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ryr2 has been classified as Green List (High Evidence).",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-07-30T19:54:51.502091+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RYR2 were changed from to Arrhythmogenic right ventricular dysplasia 2 , MIM#600996; Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-07-30T19:54:30.800725+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RYR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-07-30T19:54:18.892903+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 2 , MIM#600996, Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-07-30T19:53:36.100817+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RYR1 as ready",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2020-07-30T19:53:36.090127+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ryr1 has been classified as Green List (High Evidence).",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2020-07-30T19:53:30.864000+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RYR1 were changed from to {Malignant hyperthermia susceptibility 1}, MIM#145600",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2020-07-30T19:53:23.082756+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RYR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2020-07-30T19:53:12.806854+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Malignant hyperthermia susceptibility 1}, MIM#145600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RYR1",
"entity_type": "gene"
}
]
}