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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1214",
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"results": [
{
"created": "2021-09-10T18:09:29.605698+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF23 were changed from Enzyme Disorder; Anaemia, dyserythropoietic congenital, type III; Congenital dyserythropoietic anemia (CDA); Congenital dyserythropoietic anemia type III; 605064 Congenital dyserythropoietic anaemia type 3; CDA III to Congenital dyserythropoietic anemia type III",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2021-09-10T18:09:18.247820+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIF23 as Red List (low evidence)",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2021-09-10T18:09:18.232322+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif23 has been classified as Red List (Low Evidence).",
"entity_name": "KIF23",
"entity_type": "gene"
},
{
"created": "2021-09-10T18:08:01.609828+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTRR as ready",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2021-09-10T18:08:01.596046+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtrr has been classified as Green List (High Evidence).",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2021-09-10T18:07:58.184194+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTRR were changed from to Homocystinuria-megaloblastic anaemia, cbl E type, MIM# 236270",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2021-09-10T18:07:30.620979+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTRR were set to ",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2021-09-10T18:06:54.368854+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MTRR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2021-09-10T18:06:26.618446+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MTRR: Rating: GREEN; Mode of pathogenicity: None; Publications: 12555939, 15714522; Phenotypes: Homocystinuria-megaloblastic anaemia, cbl E type, MIM# 236270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2021-09-10T18:05:19.502875+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTRR as ready",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2021-09-10T18:05:19.491606+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtrr has been classified as Green List (High Evidence).",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2021-09-10T18:05:12.734980+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTRR were changed from to Homocystinuria-megaloblastic anaemia, cbl E type, MIM# 236270",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2021-09-10T18:02:57.846399+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTRR were set to ",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2021-09-10T18:02:38.531980+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MTRR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2021-09-10T18:02:22.598005+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MTRR: Rating: GREEN; Mode of pathogenicity: None; Publications: 12555939, 15714522; Phenotypes: Homocystinuria-megaloblastic anaemia, cbl E type, MIM# 236270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2021-09-10T18:01:32.464204+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTRR as ready",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2021-09-10T18:01:32.444532+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtrr has been classified as Green List (High Evidence).",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2021-09-10T18:01:30.189978+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTRR were changed from Homocystinuria-megaloblastic anemia, cbl E type, 236270; 236270 Homocystinuria-megaloblastic anemia, cbl E type to Homocystinuria-megaloblastic anaemia, cbl E type, MIM# 236270",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2021-09-10T18:01:12.875792+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MTRR: Rating: GREEN; Mode of pathogenicity: None; Publications: 12555939, 15714522; Phenotypes: Homocystinuria-megaloblastic anaemia, cbl E type, MIM# 236270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2021-09-10T17:58:59.383129+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTR as ready",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2021-09-10T17:58:59.372537+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtr has been classified as Green List (High Evidence).",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2021-09-10T17:58:55.499548+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTR were changed from to Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2021-09-10T17:58:26.849545+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTR were set to ",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2021-09-10T17:57:58.685620+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MTR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2021-09-10T17:57:20.129687+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MTR: Rating: GREEN; Mode of pathogenicity: None; Publications: 8968736, 8968737, 9683607, 12068375; Phenotypes: Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2021-09-10T17:56:46.269747+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTR as ready",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2021-09-10T17:56:46.257200+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtr has been classified as Green List (High Evidence).",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2021-09-10T17:56:39.065119+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTR were changed from to Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2021-09-10T17:56:22.283322+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTR were set to ",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2021-09-10T17:55:46.300154+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MTR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2021-09-10T17:55:28.223960+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MTR: Rating: GREEN; Mode of pathogenicity: None; Publications: 8968736, 8968737, 9683607, 12068375; Phenotypes: Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2021-09-10T16:28:57.217416+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTR as ready",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2021-09-10T16:28:57.198949+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtr has been classified as Green List (High Evidence).",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2021-09-10T16:28:55.364092+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTR were changed from Homocystinuria-megaloblastic anemia, cblG complementation type, 250940; 250940 Homocystinuria-megaloblastic anemia, cblG complementation type to Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2021-09-10T16:28:46.166643+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTR were set to 9683607; 12068375",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2021-09-10T16:28:31.096527+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MTR: Rating: GREEN; Mode of pathogenicity: None; Publications: 8968736, 8968737, 9683607, 12068375; Phenotypes: Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2021-09-10T16:12:02.823376+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LPIN2 as ready",
"entity_name": "LPIN2",
"entity_type": "gene"
},
{
"created": "2021-09-10T16:12:02.810324+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lpin2 has been classified as Green List (High Evidence).",
"entity_name": "LPIN2",
"entity_type": "gene"
},
{
"created": "2021-09-10T16:11:33.011020+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LPIN2 were changed from to Majeed syndrome, MIM# 609628; Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anaemia",
"entity_name": "LPIN2",
"entity_type": "gene"
},
{
"created": "2021-09-10T16:11:01.684659+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LPIN2 were set to ",
"entity_name": "LPIN2",
"entity_type": "gene"
},
{
"created": "2021-09-10T16:10:26.070074+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LPIN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LPIN2",
"entity_type": "gene"
},
{
"created": "2021-09-10T16:09:34.213883+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LPIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15994876, 33993107, 33670882, 33314777, 31727123; Phenotypes: Majeed syndrome, MIM# 609628, Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LPIN2",
"entity_type": "gene"
},
{
"created": "2021-09-10T16:04:49.022643+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LPIN2 as ready",
"entity_name": "LPIN2",
"entity_type": "gene"
},
{
"created": "2021-09-10T16:04:49.007576+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lpin2 has been classified as Green List (High Evidence).",
"entity_name": "LPIN2",
"entity_type": "gene"
},
{
"created": "2021-09-10T16:03:18.111565+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LPIN2 were changed from to Majeed syndrome, MIM# 609628; Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anaemia",
"entity_name": "LPIN2",
"entity_type": "gene"
},
{
"created": "2021-09-10T16:02:58.045367+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LPIN2 were set to ",
"entity_name": "LPIN2",
"entity_type": "gene"
},
{
"created": "2021-09-10T16:02:39.807055+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LPIN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LPIN2",
"entity_type": "gene"
},
{
"created": "2021-09-10T16:02:23.295347+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LPIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15994876, 33993107, 33670882, 33314777, 31727123; Phenotypes: Majeed syndrome, MIM# 609628, Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LPIN2",
"entity_type": "gene"
},
{
"created": "2021-09-10T16:01:45.244246+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LPIN2 as ready",
"entity_name": "LPIN2",
"entity_type": "gene"
},
{
"created": "2021-09-10T16:01:45.234752+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lpin2 has been classified as Green List (High Evidence).",
"entity_name": "LPIN2",
"entity_type": "gene"
},
{
"created": "2021-09-10T16:01:43.227043+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LPIN2 were changed from Congenital dyserythropoietic anemia; Microcytic anemia; Majeed syndrome, 609628; 609628 Microcytic anemia; CDA; Majeed syndrome; 609628 Majeed syndrome to Majeed syndrome, MIM# 609628; Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anaemia",
"entity_name": "LPIN2",
"entity_type": "gene"
},
{
"created": "2021-09-10T16:01:32.077088+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LPIN2 were set to 17330256; 15994876",
"entity_name": "LPIN2",
"entity_type": "gene"
},
{
"created": "2021-09-10T16:01:18.115347+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LPIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15994876, 33993107, 33670882, 33314777, 31727123; Phenotypes: Majeed syndrome, MIM# 609628, Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LPIN2",
"entity_type": "gene"
},
{
"created": "2021-09-10T14:31:39.531898+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNQ1 as ready",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2021-09-10T14:31:39.522780+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnq1 has been classified as Red List (Low Evidence).",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2021-09-10T14:27:30.387213+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNQ1 was added\ngene: KCNQ1 was added to Hydrops fetalis. Sources: Expert Review\nMode of inheritance for gene: KCNQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNQ1 were set to 27539165\nPhenotypes for gene: KCNQ1 were set to Long QT syndrome 1, 192500\nReview for gene: KCNQ1 was set to RED\nAdded comment: Can present antenatally with bradycardia, but no specific mention of hydrops. \nSources: Expert Review",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2021-09-10T14:26:00.506290+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNH2 as ready",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2021-09-10T14:26:00.493443+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnh2 has been classified as Red List (Low Evidence).",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2021-09-10T14:25:53.727487+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNH2 was added\ngene: KCNH2 was added to Hydrops fetalis. Sources: Expert Review\nMode of inheritance for gene: KCNH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNH2 were set to 27492745\nPhenotypes for gene: KCNH2 were set to long QT syndrome\nReview for gene: KCNH2 was set to RED\nAdded comment: Single case report identified of presentation with hydrops. \nSources: Expert Review",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2021-09-10T14:20:56.947344+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN5A as ready",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2021-09-10T14:20:56.936256+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.204",
"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": "2021-09-10T14:20:41.512708+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCN5A as Green List (high evidence)",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2021-09-10T14:20:41.501855+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.204",
"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": "2021-09-10T14:20:13.021697+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCN5A was added\ngene: SCN5A was added to Hydrops fetalis. Sources: Expert Review\nMode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SCN5A were set to 22064211; 15184283; 19419784\nPhenotypes for gene: SCN5A were set to Long QT syndrome 3 (MIM#603830)\nReview for gene: SCN5A was set to GREEN\nAdded comment: Three families reported with severe perinatal presentation, including hydrops. \nSources: Expert Review",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2021-09-10T10:53:24.431899+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag adult-onset tag was added to STR: OPDM1.",
"entity_name": "OPDM1",
"entity_type": "str"
},
{
"created": "2021-09-10T10:52:42.990770+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag adult-onset tag was added to STR: NIID.",
"entity_name": "NIID",
"entity_type": "str"
},
{
"created": "2021-09-10T10:51:58.513865+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Australian Genomics; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-09-10T10:51:29.870047+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag paediatric-onset tag was added to STR: VACTERLX.",
"entity_name": "VACTERLX",
"entity_type": "str"
},
{
"created": "2021-09-10T10:50:59.144823+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag adult-onset tag was added to STR: OPML1.",
"entity_name": "OPML1",
"entity_type": "str"
},
{
"created": "2021-09-10T10:48:49.710249+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked STR: NIPA1 as ready",
"entity_name": "NIPA1",
"entity_type": "str"
},
{
"created": "2021-09-10T10:48:49.700003+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Str: nipa1 has been classified as Red List (Low Evidence).",
"entity_name": "NIPA1",
"entity_type": "str"
},
{
"created": "2021-09-10T10:48:44.969603+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag adult-onset tag was added to STR: NIPA1.",
"entity_name": "NIPA1",
"entity_type": "str"
},
{
"created": "2021-09-10T10:48:13.055751+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag paediatric-onset tag was added to STR: FRAXF.",
"entity_name": "FRAXF",
"entity_type": "str"
},
{
"created": "2021-09-10T10:47:10.877514+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag paediatric-onset tag was added to STR: FRA7A.",
"entity_name": "FRA7A",
"entity_type": "str"
},
{
"created": "2021-09-10T10:45:05.560515+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked STR: FRA11B as ready",
"entity_name": "FRA11B",
"entity_type": "str"
},
{
"created": "2021-09-10T10:45:05.551332+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Str: fra11b has been classified as Red List (Low Evidence).",
"entity_name": "FRA11B",
"entity_type": "str"
},
{
"created": "2021-09-10T10:44:58.966578+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag paediatric-onset tag was added to STR: FRA11B.",
"entity_name": "FRA11B",
"entity_type": "str"
},
{
"created": "2021-09-10T10:43:56.676689+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag paediatric-onset tag was added to STR: FRA11A.",
"entity_name": "FRA11A",
"entity_type": "str"
},
{
"created": "2021-09-10T10:43:36.327126+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag adult-onset tag was added to STR: FAME7.",
"entity_name": "FAME7",
"entity_type": "str"
},
{
"created": "2021-09-10T10:43:22.408584+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag adult-onset tag was added to STR: FAME6.",
"entity_name": "FAME6",
"entity_type": "str"
},
{
"created": "2021-09-10T10:43:05.407644+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag adult-onset tag was added to STR: FAME4.",
"entity_name": "FAME4",
"entity_type": "str"
},
{
"created": "2021-09-10T10:41:43.323498+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag adult-onset tag was added to STR: DMD.\nTag paediatric-onset tag was added to STR: DMD.",
"entity_name": "DMD",
"entity_type": "str"
},
{
"created": "2021-09-10T10:41:25.525126+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag paediatric-onset tag was added to STR: FRA2A.",
"entity_name": "FRA2A",
"entity_type": "str"
},
{
"created": "2021-09-10T10:40:54.336272+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag paediatric-onset tag was added to STR: FRA12A.",
"entity_name": "FRA12A",
"entity_type": "str"
},
{
"created": "2021-09-10T10:40:15.875004+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked STR: CCD as ready",
"entity_name": "CCD",
"entity_type": "str"
},
{
"created": "2021-09-10T10:40:15.864472+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Str: ccd has been classified as Amber List (Moderate Evidence).",
"entity_name": "CCD",
"entity_type": "str"
},
{
"created": "2021-09-10T10:40:12.733881+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag paediatric-onset tag was added to STR: CCD.",
"entity_name": "CCD",
"entity_type": "str"
},
{
"created": "2021-09-10T10:39:52.968809+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked STR: CANVAS_ACAGG as ready",
"entity_name": "CANVAS_ACAGG",
"entity_type": "str"
},
{
"created": "2021-09-10T10:39:52.956613+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Str: canvas_acagg has been classified as Amber List (Moderate Evidence).",
"entity_name": "CANVAS_ACAGG",
"entity_type": "str"
},
{
"created": "2021-09-10T10:39:36.888143+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag adult-onset tag was added to STR: CANVAS_ACAGG.",
"entity_name": "CANVAS_ACAGG",
"entity_type": "str"
},
{
"created": "2021-09-10T10:39:05.623326+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag adult-onset tag was added to STR: XDP.",
"entity_name": "XDP",
"entity_type": "str"
},
{
"created": "2021-09-10T10:37:34.332975+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag paediatric-onset tag was added to STR: TOF.",
"entity_name": "TOF",
"entity_type": "str"
},
{
"created": "2021-09-10T10:37:09.497135+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag paediatric-onset tag was added to STR: SPD1.",
"entity_name": "SPD1",
"entity_type": "str"
},
{
"created": "2021-09-10T10:36:42.744018+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag adult-onset tag was added to STR: SCA8.",
"entity_name": "SCA8",
"entity_type": "str"
},
{
"created": "2021-09-10T10:35:58.635017+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag adult-onset tag was added to STR: SCA7.",
"entity_name": "SCA7",
"entity_type": "str"
},
{
"created": "2021-09-10T10:35:07.307481+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag adult-onset tag was added to STR: SCA6.",
"entity_name": "SCA6",
"entity_type": "str"
},
{
"created": "2021-09-10T10:33:58.713440+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag adult-onset tag was added to STR: SCA37.",
"entity_name": "SCA37",
"entity_type": "str"
},
{
"created": "2021-09-10T10:33:36.081822+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag adult-onset tag was added to STR: SCA36.",
"entity_name": "SCA36",
"entity_type": "str"
},
{
"created": "2021-09-10T10:33:11.985670+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag adult-onset tag was added to STR: SCA31.",
"entity_name": "SCA31",
"entity_type": "str"
},
{
"created": "2021-09-10T10:32:18.017982+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag adult-onset tag was added to STR: SCA3.\nTag paediatric-onset tag was added to STR: SCA3.",
"entity_name": "SCA3",
"entity_type": "str"
}
]
}