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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=923",
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"results": [
{
"created": "2022-03-22T19:05:02.177729+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS6 were changed from to Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232",
"entity_name": "NDUFS6",
"entity_type": "gene"
},
{
"created": "2022-03-22T19:04:34.022874+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.409",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS6 were set to ",
"entity_name": "NDUFS6",
"entity_type": "gene"
},
{
"created": "2022-03-22T19:04:04.008981+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS6",
"entity_type": "gene"
},
{
"created": "2022-03-22T19:03:36.180854+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFS6 as Red List (low evidence)",
"entity_name": "NDUFS6",
"entity_type": "gene"
},
{
"created": "2022-03-22T19:03:36.170839+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs6 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFS6",
"entity_type": "gene"
},
{
"created": "2022-03-22T19:02:47.372454+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.746",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS6 as ready",
"entity_name": "NDUFS6",
"entity_type": "gene"
},
{
"created": "2022-03-22T19:02:47.349319+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.746",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs6 has been classified as Green List (High Evidence).",
"entity_name": "NDUFS6",
"entity_type": "gene"
},
{
"created": "2022-03-22T18:59:50.919890+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.746",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS6 were changed from to Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232",
"entity_name": "NDUFS6",
"entity_type": "gene"
},
{
"created": "2022-03-22T18:59:12.562708+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS6 were set to ",
"entity_name": "NDUFS6",
"entity_type": "gene"
},
{
"created": "2022-03-22T18:58:30.813893+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS6",
"entity_type": "gene"
},
{
"created": "2022-03-22T18:57:18.081658+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS6 as ready",
"entity_name": "NDUFS6",
"entity_type": "gene"
},
{
"created": "2022-03-22T18:57:18.066844+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs6 has been classified as Green List (High Evidence).",
"entity_name": "NDUFS6",
"entity_type": "gene"
},
{
"created": "2022-03-22T18:57:08.814404+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS6 were changed from to Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232",
"entity_name": "NDUFS6",
"entity_type": "gene"
},
{
"created": "2022-03-22T18:46:01.340132+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS6 were set to ",
"entity_name": "NDUFS6",
"entity_type": "gene"
},
{
"created": "2022-03-22T18:45:41.398173+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS6",
"entity_type": "gene"
},
{
"created": "2022-03-22T18:45:02.270264+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: USH1G as ready",
"entity_name": "USH1G",
"entity_type": "gene"
},
{
"created": "2022-03-22T18:45:02.249623+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ush1g has been classified as Green List (High Evidence).",
"entity_name": "USH1G",
"entity_type": "gene"
},
{
"created": "2022-03-22T18:44:53.980142+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: USH1G were changed from to Usher syndrome, type 1G, MIM# 606943",
"entity_name": "USH1G",
"entity_type": "gene"
},
{
"created": "2022-03-22T18:44:33.367926+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: USH1G were set to ",
"entity_name": "USH1G",
"entity_type": "gene"
},
{
"created": "2022-03-22T18:44:09.569311+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: USH1G was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "USH1G",
"entity_type": "gene"
},
{
"created": "2022-03-22T18:43:26.081888+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: USH1C as ready",
"entity_name": "USH1C",
"entity_type": "gene"
},
{
"created": "2022-03-22T18:43:26.072313+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ush1c has been classified as Green List (High Evidence).",
"entity_name": "USH1C",
"entity_type": "gene"
},
{
"created": "2022-03-22T18:43:17.836875+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: USH1C were changed from to Usher syndrome, type 1C, MIM# 276904; Deafness, autosomal recessive 18A, MIM# 602092",
"entity_name": "USH1C",
"entity_type": "gene"
},
{
"created": "2022-03-22T18:42:53.999231+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: USH1C were set to ",
"entity_name": "USH1C",
"entity_type": "gene"
},
{
"created": "2022-03-22T18:42:33.249379+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: USH1C was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "USH1C",
"entity_type": "gene"
},
{
"created": "2022-03-22T18:40:56.330553+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UROS as ready",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2022-03-22T18:40:56.318448+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uros has been classified as Green List (High Evidence).",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2022-03-22T18:40:47.404702+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UROS were changed from to Porphyria, congenital erythropoietic (MIM#263700)",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2022-03-22T18:40:27.449244+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UROS were set to ",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2022-03-22T18:40:06.431924+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UROS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2022-03-22T18:36:35.125179+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS5 as ready",
"entity_name": "NDUFS5",
"entity_type": "gene"
},
{
"created": "2022-03-22T18:36:35.112674+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs5 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFS5",
"entity_type": "gene"
},
{
"created": "2022-03-22T18:36:22.922420+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFS5 as Red List (low evidence)",
"entity_name": "NDUFS5",
"entity_type": "gene"
},
{
"created": "2022-03-22T18:36:22.913624+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs5 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFS5",
"entity_type": "gene"
},
{
"created": "2022-03-22T18:35:49.623882+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS4 as ready",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2022-03-22T18:35:49.611470+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs4 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2022-03-22T18:35:46.032673+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS4 were changed from to Mitochondrial complex I deficiency, nuclear type 1 - MIM#252010",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2022-03-22T18:35:10.917225+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS4 were set to ",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2022-03-22T18:31:52.869086+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2022-03-22T18:31:22.017097+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFS4 as Red List (low evidence)",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2022-03-22T18:31:22.005679+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs4 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2022-03-22T18:05:30.780992+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11732",
"user_name": "Manny Jacobs",
"item_type": "entity",
"text": "reviewed gene: TXNRD2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 24601690, PMID: 21247928; Phenotypes: # 617825 Glucocorticoid deficiency 5 (GCCD5) MONDO:0040502; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TXNRD2",
"entity_type": "gene"
},
{
"created": "2022-03-22T17:18:40.971781+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.221",
"user_name": "Abhijit Kulkarni",
"item_type": "entity",
"text": "reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 17143285, 17143282, 28884940, 17586837; Phenotypes: Noonan syndrome 4, #MIM:610733; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2022-03-22T17:12:22.649158+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11732",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ADCY10 were set to ",
"entity_name": "ADCY10",
"entity_type": "gene"
},
{
"created": "2022-03-22T17:12:11.215769+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11731",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADCY10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ADCY10",
"entity_type": "gene"
},
{
"created": "2022-03-22T17:12:03.352898+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11731",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: ADCY10 as Amber List (moderate evidence)",
"entity_name": "ADCY10",
"entity_type": "gene"
},
{
"created": "2022-03-22T17:12:03.343029+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11731",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: adcy10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADCY10",
"entity_type": "gene"
},
{
"created": "2022-03-22T17:09:40.533283+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11730",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ADCY10: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 11932268, 31119281, 25296721, 32913531, 34463764; Phenotypes: Hypercalciuria, absorptive, susceptibility to MIM#143870, asthenozoospermia with absorptive hypercalciuria; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ADCY10",
"entity_type": "gene"
},
{
"created": "2022-03-22T16:58:41.188713+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.221",
"user_name": "Abhijit Kulkarni",
"item_type": "entity",
"text": "reviewed gene: TALDO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35186000, 26238251; Phenotypes: Fetal Hydrops, Oligohydromnios, IUGR, Congenital Heart Disease, Hyperechogenic bowel; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "TALDO1",
"entity_type": "gene"
},
{
"created": "2022-03-22T16:50:26.065782+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11730",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: USP9Y: Rating: AMBER; Mode of pathogenicity: None; Publications: 10581029, 17213277, 15509635, 19737515; Phenotypes: Spermatogenic failure, Y-linked, 2, MIM#415000; Mode of inheritance: Other",
"entity_name": "USP9Y",
"entity_type": "gene"
},
{
"created": "2022-03-22T16:22:03.834108+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11730",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ADAT3 as ready",
"entity_name": "ADAT3",
"entity_type": "gene"
},
{
"created": "2022-03-22T16:22:03.824213+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11730",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: adat3 has been classified as Green List (High Evidence).",
"entity_name": "ADAT3",
"entity_type": "gene"
},
{
"created": "2022-03-22T16:10:01.267631+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11730",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ADAT3 were set to ",
"entity_name": "ADAT3",
"entity_type": "gene"
},
{
"created": "2022-03-22T16:09:54.074594+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11730",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ADAT3 were changed from to Mental retardation, autosomal recessive 36, MIM#615286",
"entity_name": "ADAT3",
"entity_type": "gene"
},
{
"created": "2022-03-22T16:09:50.304726+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11730",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADAT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAT3",
"entity_type": "gene"
},
{
"created": "2022-03-22T16:03:34.915996+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11729",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ADAMTS10 were changed from Weill-Marchesani syndrome 1, recessive, MIM#277600 to Weill-Marchesani syndrome 1, recessive, MIM#277600",
"entity_name": "ADAMTS10",
"entity_type": "gene"
},
{
"created": "2022-03-22T16:02:54.760444+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11728",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ADAMTS10 were changed from to Weill-Marchesani syndrome 1, recessive, MIM#277600",
"entity_name": "ADAMTS10",
"entity_type": "gene"
},
{
"created": "2022-03-22T16:02:47.671527+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11727",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ADAMTS10 as ready",
"entity_name": "ADAMTS10",
"entity_type": "gene"
},
{
"created": "2022-03-22T16:02:47.649041+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11727",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: adamts10 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS10",
"entity_type": "gene"
},
{
"created": "2022-03-22T16:02:44.185486+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11727",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADAMTS10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAMTS10",
"entity_type": "gene"
},
{
"created": "2022-03-22T15:44:19.312556+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11726",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADAM9 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAM9",
"entity_type": "gene"
},
{
"created": "2022-03-22T15:44:08.282346+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11725",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ADAM9 were changed from Cone-rod dystrophy 9 MIM#612775 to Cone-rod dystrophy 9 MIM#612775",
"entity_name": "ADAM9",
"entity_type": "gene"
},
{
"created": "2022-03-22T15:44:03.588022+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11725",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ADAM9 were set to PMID: 25091951; 19409519",
"entity_name": "ADAM9",
"entity_type": "gene"
},
{
"created": "2022-03-22T15:43:45.250145+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11724",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ADAM9 were set to ",
"entity_name": "ADAM9",
"entity_type": "gene"
},
{
"created": "2022-03-22T15:43:44.792466+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11724",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADAM9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAM9",
"entity_type": "gene"
},
{
"created": "2022-03-22T15:43:28.330328+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11724",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ADAM9 were changed from to Cone-rod dystrophy 9 MIM#612775",
"entity_name": "ADAM9",
"entity_type": "gene"
},
{
"created": "2022-03-22T15:43:20.295094+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11723",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ADAM9 as ready",
"entity_name": "ADAM9",
"entity_type": "gene"
},
{
"created": "2022-03-22T15:43:20.281890+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11723",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: adam9 has been classified as Green List (High Evidence).",
"entity_name": "ADAM9",
"entity_type": "gene"
},
{
"created": "2022-03-22T15:16:40.376995+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11723",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ADAM9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25091951, 19409519; Phenotypes: Cone-rod dystrophy 9 MIM#612775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAM9",
"entity_type": "gene"
},
{
"created": "2022-03-22T14:32:41.811623+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11723",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ACVRL1 were changed from Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376 to Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2022-03-22T14:32:31.478889+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11723",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ACVRL1 were changed from Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376 to Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2022-03-22T14:23:09.335993+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11722",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ACVRL1 were changed from to Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2022-03-22T14:22:57.416563+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11721",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ACVRL1 were set to ",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2022-03-22T14:22:54.119862+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11721",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ACVRL1 as ready",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2022-03-22T14:22:54.107712+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11721",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: acvrl1 has been classified as Green List (High Evidence).",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2022-03-22T14:22:50.103106+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11721",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACVRL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2022-03-22T14:12:21.779360+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11720",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16542389; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2022-03-22T14:03:34.432165+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11720",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ACTN2 were changed from Myopathy, distal, 6, adult onset MIM#618655; Cardiomyopathy, hypertrophic, 23, with or without LVNC MIM#612158; Cardiomyopathy, dilated, 1AA, with or without LVNC MIM#612158; Myopathy, congenital with structured cores and Z-line abnormalities MIM#618654 to Myopathy, distal, 6, adult onset MIM#618655; Cardiomyopathy, hypertrophic, 23, with or without LVNC MIM#612158; Cardiomyopathy, dilated, 1AA, with or without LVNC MIM#612158; Myopathy, congenital with structured cores and Z-line abnormalities MIM#618654",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2022-03-22T14:03:29.811775+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11720",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ACTN2 were set to PMID: 34802252; 27287556",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2022-03-22T13:35:27.769009+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11719",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24034276, 21255763; Phenotypes: Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2022-03-22T13:28:36.216116+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11719",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ACTN2 were changed from to Myopathy, distal, 6, adult onset MIM#618655; Cardiomyopathy, hypertrophic, 23, with or without LVNC MIM#612158; Cardiomyopathy, dilated, 1AA, with or without LVNC MIM#612158; Myopathy, congenital with structured cores and Z-line abnormalities MIM#618654",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2022-03-22T13:28:31.192366+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11718",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ACTN2 were set to ",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2022-03-22T13:28:16.429024+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11718",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ACTN2 as ready",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2022-03-22T13:28:16.419574+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11718",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: actn2 has been classified as Green List (High Evidence).",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2022-03-22T13:28:11.370698+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11718",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACTN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2022-03-22T13:27:35.941181+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11717",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34802252, 27287556; Phenotypes: Myopathy, distal, 6, adult onset MIM#618655, Cardiomyopathy, hypertrophic, 23, with or without LVNC MIM#612158, Cardiomyopathy, dilated, 1AA, with or without LVNC MIM#612158, Myopathy, congenital with structured cores and Z-line abnormalities MIM#618654; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2022-03-22T12:59:13.142002+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11717",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ACADSB as ready",
"entity_name": "ACADSB",
"entity_type": "gene"
},
{
"created": "2022-03-22T12:59:13.130004+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11717",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: acadsb has been classified as Green List (High Evidence).",
"entity_name": "ACADSB",
"entity_type": "gene"
},
{
"created": "2022-03-22T12:55:52.463436+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11717",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ACTG1 were set to ",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2022-03-22T12:55:40.630329+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11718",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ACTG1 were changed from to Baraitser-Winter syndrome 2 MIM#614583; Deafness, autosomal dominant 20/26 MIM#604717",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2022-03-22T12:55:36.129811+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11717",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: ACTG1 was changed from to Other",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2022-03-22T12:55:35.316128+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11717",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ACTG1 as ready",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2022-03-22T12:55:35.303708+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11717",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: actg1 has been classified as Green List (High Evidence).",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2022-03-22T12:55:26.345963+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11717",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACTG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2022-03-22T12:53:24.283058+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11716",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ACTG1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 29620237; Phenotypes: Baraitser-Winter syndrome 2MIM#614583, Deafness, autosomal dominant 20/26 MIM#604717; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2022-03-22T12:41:49.764591+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11716",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ACHE as ready",
"entity_name": "ACHE",
"entity_type": "gene"
},
{
"created": "2022-03-22T12:41:49.751500+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11716",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: ache has been classified as Red List (Low Evidence).",
"entity_name": "ACHE",
"entity_type": "gene"
},
{
"created": "2022-03-22T12:41:48.005757+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11716",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ACP4 were changed from Amelogenesis imperfecta, type IJ MIM#617297 to Amelogenesis imperfecta, type IJ MIM#617297",
"entity_name": "ACP4",
"entity_type": "gene"
},
{
"created": "2022-03-22T12:41:38.828571+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11716",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ACP4 were changed from Amelogenesis imperfecta, type IJ MIM#617297 to Amelogenesis imperfecta, type IJ MIM#617297",
"entity_name": "ACP4",
"entity_type": "gene"
},
{
"created": "2022-03-22T12:41:35.304775+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11716",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ACP4 were set to 28513613; 27843125; 33552707",
"entity_name": "ACP4",
"entity_type": "gene"
}
]
}