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{
"count": 220833,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1973",
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"results": [
{
"created": "2020-01-21T20:18:05.467363+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COX10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX10",
"entity_type": "gene"
},
{
"created": "2020-01-21T20:17:37.308441+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COX10 as Amber List (moderate evidence)",
"entity_name": "COX10",
"entity_type": "gene"
},
{
"created": "2020-01-21T20:17:37.296891+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX10",
"entity_type": "gene"
},
{
"created": "2020-01-21T20:16:57.014138+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COX10: Rating: AMBER; Mode of pathogenicity: None; Publications: 10767350; Phenotypes: Mitochondrial complex IV deficiency, MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX10",
"entity_type": "gene"
},
{
"created": "2020-01-21T18:18:49.978255+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COQ6 were set to 21540551",
"entity_name": "COQ6",
"entity_type": "gene"
},
{
"created": "2020-01-21T18:18:42.938906+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COQ6 as ready",
"entity_name": "COQ6",
"entity_type": "gene"
},
{
"created": "2020-01-21T18:18:42.921186+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COQ6",
"entity_type": "gene"
},
{
"created": "2020-01-21T18:18:16.777666+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COQ6 were changed from to Coenzyme Q10 deficiency, primary, 6, MIM#614650",
"entity_name": "COQ6",
"entity_type": "gene"
},
{
"created": "2020-01-21T18:17:49.834747+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COQ6 were set to ",
"entity_name": "COQ6",
"entity_type": "gene"
},
{
"created": "2020-01-21T18:17:19.137588+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COQ6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ6",
"entity_type": "gene"
},
{
"created": "2020-01-21T18:16:55.706588+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COQ6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ6",
"entity_type": "gene"
},
{
"created": "2020-01-21T18:16:21.324220+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COQ6 as Amber List (moderate evidence)",
"entity_name": "COQ6",
"entity_type": "gene"
},
{
"created": "2020-01-21T18:16:21.312297+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COQ6",
"entity_type": "gene"
},
{
"created": "2020-01-21T18:15:42.285796+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COQ6: Rating: AMBER; Mode of pathogenicity: None; Publications: 21540551; Phenotypes: Coenzyme Q10 deficiency, primary, 6, MIM#614650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ6",
"entity_type": "gene"
},
{
"created": "2020-01-21T18:12:33.957077+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COG8 were changed from Congenital disorder of glycosylation, type IIh, 611182 to Congenital disorder of glycosylation, type IIh, 611182",
"entity_name": "COG8",
"entity_type": "gene"
},
{
"created": "2020-01-21T18:12:14.536729+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COG8 as ready",
"entity_name": "COG8",
"entity_type": "gene"
},
{
"created": "2020-01-21T18:12:13.746432+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COG8",
"entity_type": "gene"
},
{
"created": "2020-01-21T18:12:04.956963+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COG8 were set to 28619360; 17220172; 17331980",
"entity_name": "COG8",
"entity_type": "gene"
},
{
"created": "2020-01-21T18:11:41.092171+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COG8 were changed from to Congenital disorder of glycosylation, type IIh, 611182",
"entity_name": "COG8",
"entity_type": "gene"
},
{
"created": "2020-01-21T18:11:17.747585+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COG8 were set to ",
"entity_name": "COG8",
"entity_type": "gene"
},
{
"created": "2020-01-21T18:10:48.954327+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG8",
"entity_type": "gene"
},
{
"created": "2020-01-21T18:10:20.481406+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COG8 as Amber List (moderate evidence)",
"entity_name": "COG8",
"entity_type": "gene"
},
{
"created": "2020-01-21T18:10:20.469701+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COG8",
"entity_type": "gene"
},
{
"created": "2020-01-21T18:09:42.010759+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COG8: Rating: AMBER; Mode of pathogenicity: None; Publications: 28619360, 17220172, 17331980; Phenotypes: Congenital disorder of glycosylation, type IIh, 611182; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG8",
"entity_type": "gene"
},
{
"created": "2020-01-21T18:04:38.274864+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HOXB6 as ready",
"entity_name": "HOXB6",
"entity_type": "gene"
},
{
"created": "2020-01-21T18:04:38.262523+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxb6 has been classified as Green List (High Evidence).",
"entity_name": "HOXB6",
"entity_type": "gene"
},
{
"created": "2020-01-21T18:04:26.033073+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HOXB6 were changed from to Hypospadias",
"entity_name": "HOXB6",
"entity_type": "gene"
},
{
"created": "2020-01-21T18:04:09.211854+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HOXB6 were set to ",
"entity_name": "HOXB6",
"entity_type": "gene"
},
{
"created": "2020-01-21T18:03:52.601257+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HOXB6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HOXB6",
"entity_type": "gene"
},
{
"created": "2020-01-21T18:01:37.982836+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIFR as ready",
"entity_name": "LIFR",
"entity_type": "gene"
},
{
"created": "2020-01-21T18:01:37.971681+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lifr has been classified as Green List (High Evidence).",
"entity_name": "LIFR",
"entity_type": "gene"
},
{
"created": "2020-01-21T18:01:24.695010+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LIFR were changed from to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM#\t601559; CAKUT",
"entity_name": "LIFR",
"entity_type": "gene"
},
{
"created": "2020-01-21T18:01:08.564321+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LIFR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LIFR",
"entity_type": "gene"
},
{
"created": "2020-01-21T18:00:44.217551+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.882",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LIFR were set to ",
"entity_name": "LIFR",
"entity_type": "gene"
},
{
"created": "2020-01-21T18:00:06.125826+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LIFR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LIFR",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:58:14.621685+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COG6 were changed from Coenzyme Q10 deficiency, primary, 6, MIM#614650 to Coenzyme Q10 deficiency, primary, 6, MIM#614650",
"entity_name": "COG6",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:57:58.447710+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COG6 as ready",
"entity_name": "COG6",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:57:58.434752+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COG6",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:57:44.928984+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COG6 were changed from to Coenzyme Q10 deficiency, primary, 6, MIM#614650",
"entity_name": "COG6",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:57:15.918053+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COG6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG6",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:56:41.357124+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COG6 as Amber List (moderate evidence)",
"entity_name": "COG6",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:56:41.345500+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COG6",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:56:07.702094+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COG6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 6, MIM#614650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG6",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:51:53.475509+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COG4 as ready",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:51:53.464240+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:51:47.183165+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COG4 were changed from Congenital disorder of glycosylation, type IIj, MIM#613489 to Congenital disorder of glycosylation, type IIj, MIM#613489",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:51:24.723970+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COG4 were changed from to Congenital disorder of glycosylation, type IIj, MIM#613489",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:50:54.793536+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:50:14.159058+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COG4 as Amber List (moderate evidence)",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:50:14.147389+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:49:39.304060+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COG4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIj, MIM#613489; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG4",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:47:01.503793+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHD4 were set to 27479907; 27616479",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:46:54.525359+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHD4 as ready",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:46:54.512332+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd4 has been classified as Red List (Low Evidence).",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:46:32.130848+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHD4 were set to ",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:46:02.578604+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHD4 were changed from to Sifrim-Hitz-Weiss syndrome, MIM# 617159",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:45:17.969755+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:44:42.185628+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHD4 as Red List (low evidence)",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:44:42.174271+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd4 has been classified as Red List (Low Evidence).",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:44:01.503682+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHD4: Rating: RED; Mode of pathogenicity: None; Publications: 27479907, 27616479; Phenotypes: Sifrim-Hitz-Weiss syndrome, MIM# 617159; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:38:26.583127+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC88A as ready",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:38:26.571054+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc88a has been classified as Green List (High Evidence).",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:38:21.628635+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC88A were changed from PEHO syndrome-like, 617507 to PEHO syndrome-like, 617507",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:37:46.722774+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC88A were changed from to PEHO syndrome-like, 617507",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:37:23.631179+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CCDC88A were set to ",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:36:24.663091+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC88A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:35:51.095372+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCDC88A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26917597, 30392057; Phenotypes: PEHO syndrome-like, 617507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:26:30.238941+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA1B as ready",
"entity_name": "CACNA1B",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:26:30.227732+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1b has been classified as Green List (High Evidence).",
"entity_name": "CACNA1B",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:26:03.956634+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CACNA1B as Green List (high evidence)",
"entity_name": "CACNA1B",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:26:03.944677+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1b has been classified as Green List (High Evidence).",
"entity_name": "CACNA1B",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:25:14.284676+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CACNA1B was added\ngene: CACNA1B was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: CACNA1B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CACNA1B were set to 30982612\nPhenotypes for gene: CACNA1B were set to Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM# 618497\nReview for gene: CACNA1B was set to GREEN\nAdded comment: Three unrelated families reported. \nSources: Expert list",
"entity_name": "CACNA1B",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:25:08.990007+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA1B as ready",
"entity_name": "CACNA1B",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:25:08.976183+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1b has been classified as Green List (High Evidence).",
"entity_name": "CACNA1B",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:24:54.811724+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1B were changed from to Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM# 618497",
"entity_name": "CACNA1B",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:24:24.715437+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CACNA1B were set to ",
"entity_name": "CACNA1B",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:23:34.641000+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CACNA1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CACNA1B",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:23:11.086305+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CACNA1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30982612; Phenotypes: Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM# 618497; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CACNA1B",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:22:58.309288+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA1B as ready",
"entity_name": "CACNA1B",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:22:58.297342+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1b has been classified as Green List (High Evidence).",
"entity_name": "CACNA1B",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:22:24.995713+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CACNA1B as Green List (high evidence)",
"entity_name": "CACNA1B",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:22:24.978423+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1b has been classified as Green List (High Evidence).",
"entity_name": "CACNA1B",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:21:22.405898+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CACNA1B was added\ngene: CACNA1B was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: CACNA1B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CACNA1B were set to 30982612\nPhenotypes for gene: CACNA1B were set to Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM#\t618497\nReview for gene: CACNA1B was set to GREEN\ngene: CACNA1B was marked as current diagnostic\nAdded comment: Three unrelated families reported. \nSources: Expert list",
"entity_name": "CACNA1B",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:15:32.575113+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP6V1A as ready",
"entity_name": "ATP6V1A",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:15:32.563297+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v1a has been classified as Green List (High Evidence).",
"entity_name": "ATP6V1A",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:15:21.776339+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP6V1A as Green List (high evidence)",
"entity_name": "ATP6V1A",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:15:21.763401+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v1a has been classified as Green List (High Evidence).",
"entity_name": "ATP6V1A",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:14:42.895203+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP6V1A was added\ngene: ATP6V1A was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: ATP6V1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ATP6V1A were set to 29668857; 28065471\nPhenotypes for gene: ATP6V1A were set to Epileptic encephalopathy, infantile or early childhood, 618012; Cutis laxa, type IID, 617403\nReview for gene: ATP6V1A was set to GREEN\ngene: ATP6V1A was marked as current diagnostic\nAdded comment: Monoallelic variants associated with Epileptic encephalopathy, infantile or early childhood, 3 618012 and biallelic variants associated with Cutis laxa, autosomal recessive, type IID 617403. Both phenotypes include seizures. \nSources: Expert list",
"entity_name": "ATP6V1A",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:09:59.685001+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP6V0A2 as ready",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:09:59.672897+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v0a2 has been classified as Green List (High Evidence).",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:09:46.436681+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP6V0A2 as Green List (high evidence)",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:09:46.424432+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v0a2 has been classified as Green List (High Evidence).",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2020-01-21T17:08:33.359915+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP6V0A2 was added\ngene: ATP6V0A2 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP6V0A2 were set to 18157129; 22773132\nPhenotypes for gene: ATP6V0A2 were set to Cutis laxa, type IIA,219200\nReview for gene: ATP6V0A2 was set to GREEN\ngene: ATP6V0A2 was marked as current diagnostic\nAdded comment: AR cutis laxa type IIa (ARCLA2A) is a multi-system disorder with features including cutis laxa, abnormal growth, dev delay, and skeletal abnormalities. Cobblestone-like brain dysgenesis manifests as developmental delay and an epileptic syndrome: Morova et al, 2008 - 10 patients with cutis laxa and clinical features included epilepsy. Van Maldergem et al, 2008 - 11 patients from 9 families - 5/11 developed refractory seizures. All but 1 patient had variants in ATP6V0A2. \nSources: Expert list",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2020-01-21T16:53:37.831793+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDH2 as ready",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2020-01-21T16:53:37.819845+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdh2 has been classified as Green List (High Evidence).",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2020-01-21T16:53:29.649668+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDH2 as Green List (high evidence)",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2020-01-21T16:53:29.638009+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdh2 has been classified as Green List (High Evidence).",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2020-01-21T16:53:07.959429+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDH2 as ready",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2020-01-21T16:53:07.304030+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdh2 has been classified as Green List (High Evidence).",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2020-01-21T16:52:54.570314+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDH2 as Green List (high evidence)",
"entity_name": "CDH2",
"entity_type": "gene"
}
]
}