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{
"count": 220377,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=939",
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"results": [
{
"created": "2022-03-15T10:14:26.234924+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4566",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C12orf4 were set to 34967075; 31334606; 27311568; 25558065; 28097321",
"entity_name": "C12orf4",
"entity_type": "gene"
},
{
"created": "2022-03-15T10:14:01.826298+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4566",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C12orf4 were set to 34967075; 31334606; 27311568; 25558065; 28097321",
"entity_name": "C12orf4",
"entity_type": "gene"
},
{
"created": "2022-03-15T10:13:40.223671+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11358",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C12orf4 were changed from to Intellectual developmental disorder, autosomal recessive 66 MIM#618221",
"entity_name": "C12orf4",
"entity_type": "gene"
},
{
"created": "2022-03-15T10:12:51.763219+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4565",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C12orf4 were set to ",
"entity_name": "C12orf4",
"entity_type": "gene"
},
{
"created": "2022-03-15T10:12:32.182127+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4565",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: C12orf4 was changed from to None",
"entity_name": "C12orf4",
"entity_type": "gene"
},
{
"created": "2022-03-15T10:11:34.520344+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4564",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C12orf4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C12orf4",
"entity_type": "gene"
},
{
"created": "2022-03-15T10:10:55.806676+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4563",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: C12orf4: Rating: GREEN; Mode of pathogenicity: None; Publications: 34967075, 31334606, 27311568, 25558065, 28097321; Phenotypes: Intellectual developmental disorder, autosomal recessive 66 MIM#618221; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "C12orf4",
"entity_type": "gene"
},
{
"created": "2022-03-15T10:10:22.747145+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11357",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C12orf4 were set to ",
"entity_name": "C12orf4",
"entity_type": "gene"
},
{
"created": "2022-03-15T10:10:13.038969+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11356",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: C12orf4 was changed from to None",
"entity_name": "C12orf4",
"entity_type": "gene"
},
{
"created": "2022-03-15T10:08:23.471408+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11355",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C12orf4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C12orf4",
"entity_type": "gene"
},
{
"created": "2022-03-15T10:08:03.078287+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11354",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: C12orf4: Rating: GREEN; Mode of pathogenicity: None; Publications: 34967075, 31334606, 27311568, 25558065, 28097321; Phenotypes: Intellectual developmental disorder, autosomal recessive 66 MIM#618221; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "C12orf4",
"entity_type": "gene"
},
{
"created": "2022-03-14T19:28:33.228996+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IARS2 as ready",
"entity_name": "IARS2",
"entity_type": "gene"
},
{
"created": "2022-03-14T19:28:33.217448+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iars2 has been classified as Green List (High Evidence).",
"entity_name": "IARS2",
"entity_type": "gene"
},
{
"created": "2022-03-14T19:28:25.180773+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IARS2 were changed from to Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM# 616007",
"entity_name": "IARS2",
"entity_type": "gene"
},
{
"created": "2022-03-14T19:28:05.016424+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IARS2 were set to ",
"entity_name": "IARS2",
"entity_type": "gene"
},
{
"created": "2022-03-14T19:27:44.626276+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IARS2",
"entity_type": "gene"
},
{
"created": "2022-03-14T19:27:24.484437+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28328135, 30419932, 25130867, 30041933; Phenotypes: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM# 616007; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IARS2",
"entity_type": "gene"
},
{
"created": "2022-03-14T18:16:38.898171+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KAAG1 as ready",
"entity_name": "KAAG1",
"entity_type": "gene"
},
{
"created": "2022-03-14T18:16:38.888216+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kaag1 has been classified as Red List (Low Evidence).",
"entity_name": "KAAG1",
"entity_type": "gene"
},
{
"created": "2022-03-14T18:16:29.556979+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KAAG1 as Red List (low evidence)",
"entity_name": "KAAG1",
"entity_type": "gene"
},
{
"created": "2022-03-14T18:16:29.547923+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kaag1 has been classified as Red List (Low Evidence).",
"entity_name": "KAAG1",
"entity_type": "gene"
},
{
"created": "2022-03-14T18:16:11.523639+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KAAG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "KAAG1",
"entity_type": "gene"
},
{
"created": "2022-03-14T18:14:50.247580+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KATNAL2 as ready",
"entity_name": "KATNAL2",
"entity_type": "gene"
},
{
"created": "2022-03-14T18:14:50.232916+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: katnal2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KATNAL2",
"entity_type": "gene"
},
{
"created": "2022-03-14T18:14:42.852993+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KATNAL2 were changed from to Oligo-astheno-teratozoospermia; Autism",
"entity_name": "KATNAL2",
"entity_type": "gene"
},
{
"created": "2022-03-14T18:14:20.536700+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KATNAL2 were set to ",
"entity_name": "KATNAL2",
"entity_type": "gene"
},
{
"created": "2022-03-14T18:13:08.629908+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KATNAL2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KATNAL2",
"entity_type": "gene"
},
{
"created": "2022-03-14T18:11:57.084122+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KATNAL2 as Amber List (moderate evidence)",
"entity_name": "KATNAL2",
"entity_type": "gene"
},
{
"created": "2022-03-14T18:11:57.059855+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: katnal2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KATNAL2",
"entity_type": "gene"
},
{
"created": "2022-03-14T18:11:39.247988+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KATNAL2 as Amber List (moderate evidence)",
"entity_name": "KATNAL2",
"entity_type": "gene"
},
{
"created": "2022-03-14T18:11:39.238721+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: katnal2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KATNAL2",
"entity_type": "gene"
},
{
"created": "2022-03-14T18:11:10.515611+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KATNAL2: Changed rating: AMBER",
"entity_name": "KATNAL2",
"entity_type": "gene"
},
{
"created": "2022-03-14T18:10:56.506609+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KATNAL2: Rating: AMBER; Mode of pathogenicity: None; Publications: 34096614, 22495311, 21572417, 22495309, 22495306; Phenotypes: Oligo-astheno-teratozoospermia, Autism; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KATNAL2",
"entity_type": "gene"
},
{
"created": "2022-03-14T18:06:43.701020+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNA1 as ready",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2022-03-14T18:06:43.691076+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcna1 has been classified as Green List (High Evidence).",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2022-03-14T18:06:35.663100+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNA1 were changed from to Episodic ataxia/myokymia syndrome, MIM# 160120; Epilepsy, MONDO:0005027, KCNA1-related",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2022-03-14T18:06:12.459781+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNA1 were set to ",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2022-03-14T18:05:58.138814+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: KCNA1 was changed from to None",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2022-03-14T18:04:34.417524+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2022-03-14T18:03:55.571639+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32316562; Phenotypes: Epilepsy, MONDO:0005027, KCNA1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:59:08.997329+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNA5 as ready",
"entity_name": "KCNA5",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:59:08.985360+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcna5 has been classified as Green List (High Evidence).",
"entity_name": "KCNA5",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:59:00.706662+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNA5 were changed from to Atrial fibrillation, familial, 7, MIM# 612240",
"entity_name": "KCNA5",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:58:42.523577+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNA5 were set to ",
"entity_name": "KCNA5",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:58:08.280880+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNA5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNA5",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:57:47.264741+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KCNA5: Changed rating: GREEN",
"entity_name": "KCNA5",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:57:37.123243+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNA5: Rating: ; Mode of pathogenicity: None; Publications: 16772329, 19343045, 23264583; Phenotypes: Atrial fibrillation, familial, 7, MIM# 612240; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNA5",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:54:08.629992+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCND3 as ready",
"entity_name": "KCND3",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:54:08.619150+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnd3 has been classified as Green List (High Evidence).",
"entity_name": "KCND3",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:54:04.282264+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCND3 as Green List (high evidence)",
"entity_name": "KCND3",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:54:04.272445+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnd3 has been classified as Green List (High Evidence).",
"entity_name": "KCND3",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:53:27.674601+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCND3 was added\ngene: KCND3 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: KCND3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCND3 were set to 32823520\nPhenotypes for gene: KCND3 were set to Spinocerebellar ataxia 19, MIM#607346\nReview for gene: KCND3 was set to GREEN\nAdded comment: Over 60 individuals reported with neurological disorders and variants in KCND3. Two broad clinical groups in terms of presentation: neurodevelopmental disorder with epilepsy and/or movement disorders with ataxia later in the disease course characterized the early onset forms, while a prominent ataxic syndrome with possible cognitive decline, movement disorders, and peripheral neuropathy were observed in the late onset forms. \nSources: Expert Review",
"entity_name": "KCND3",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:52:50.633453+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCND3 were set to ",
"entity_name": "KCND3",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:51:32.537597+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCND3 as ready",
"entity_name": "KCND3",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:51:32.526382+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnd3 has been classified as Green List (High Evidence).",
"entity_name": "KCND3",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:51:24.719729+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCND3 as ready",
"entity_name": "KCND3",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:51:24.706283+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnd3 has been classified as Green List (High Evidence).",
"entity_name": "KCND3",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:51:20.670563+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCND3 as Green List (high evidence)",
"entity_name": "KCND3",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:51:20.659454+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnd3 has been classified as Green List (High Evidence).",
"entity_name": "KCND3",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:51:04.839801+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCND3 was added\ngene: KCND3 was added to Ataxia - paediatric. Sources: Expert Review\nMode of inheritance for gene: KCND3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCND3 were set to 32823520\nPhenotypes for gene: KCND3 were set to Spinocerebellar ataxia 19, MIM#\t607346\nReview for gene: KCND3 was set to GREEN\nAdded comment: Variable age of symptom onset, including paediatric. Reviewed in PMID 32823520. \nSources: Expert Review",
"entity_name": "KCND3",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:49:03.658838+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCND3 as Green List (high evidence)",
"entity_name": "KCND3",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:49:03.648947+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnd3 has been classified as Green List (High Evidence).",
"entity_name": "KCND3",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:48:46.043093+11:00",
"panel_name": "Atrial Fibrillation",
"panel_id": 210,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNE5 as ready",
"entity_name": "KCNE5",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:48:46.003606+11:00",
"panel_name": "Atrial Fibrillation",
"panel_id": 210,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcne5 has been classified as Red List (Low Evidence).",
"entity_name": "KCNE5",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:48:30.971845+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Progressive neurological condition; ID only reported in some, most however reported as having normal cognition.; to: Progressive neurological condition; ID only reported in some. Recent review of all published patients, PMID 32823520 defined a group with early onset of disease, where DD/ID are the predominant presenting symptoms, with ataxia developing later.",
"entity_name": "KCND3",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:47:35.132726+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KCND3: Changed rating: GREEN; Changed publications: 32823520",
"entity_name": "KCND3",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:44:11.412128+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCND3 were changed from Spinocerebellar ataxia 19, MIM# 607346 to Spinocerebellar ataxia 19, MIM# 607346",
"entity_name": "KCND3",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:44:05.036554+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCND3 were changed from to Spinocerebellar ataxia 19, MIM# 607346",
"entity_name": "KCND3",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:43:44.793852+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCND3 were set to ",
"entity_name": "KCND3",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:43:08.653563+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCND3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCND3",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:42:49.407742+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCND3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23280837, 23280838, 34361012, 34067185, 33575485, 32823520; Phenotypes: Spinocerebellar ataxia 19, MIM# 607346; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCND3",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:39:14.801762+11:00",
"panel_name": "Atrial Fibrillation",
"panel_id": 210,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNE5 were changed from Atrial fibrillation to Atrial fibrillation",
"entity_name": "KCNE5",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:38:21.272967+11:00",
"panel_name": "Atrial Fibrillation",
"panel_id": 210,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNE5 were changed from to Atrial fibrillation",
"entity_name": "KCNE5",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:38:08.943977+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNE5 as ready",
"entity_name": "KCNE5",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:38:08.926354+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcne5 has been classified as Red List (Low Evidence).",
"entity_name": "KCNE5",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:37:43.959837+11:00",
"panel_name": "Atrial Fibrillation",
"panel_id": 210,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNE5 were set to ",
"entity_name": "KCNE5",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:37:13.504284+11:00",
"panel_name": "Atrial Fibrillation",
"panel_id": 210,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNE5 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "KCNE5",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:36:44.307563+11:00",
"panel_name": "Atrial Fibrillation",
"panel_id": 210,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNE5 as Red List (low evidence)",
"entity_name": "KCNE5",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:36:44.295099+11:00",
"panel_name": "Atrial Fibrillation",
"panel_id": 210,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcne5 has been classified as Red List (Low Evidence).",
"entity_name": "KCNE5",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:36:15.833043+11:00",
"panel_name": "Atrial Fibrillation",
"panel_id": 210,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNE5: Rating: RED; Mode of pathogenicity: None; Publications: 18313602, 16054468, 30289750; Phenotypes: Atrial fibrillation; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "KCNE5",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:36:10.847581+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNE5 were changed from to Atrial fibrillation",
"entity_name": "KCNE5",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:35:55.748949+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNE5 were set to ",
"entity_name": "KCNE5",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:35:37.736984+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNE5 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "KCNE5",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:34:04.719654+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNE5 as Red List (low evidence)",
"entity_name": "KCNE5",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:34:04.703254+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcne5 has been classified as Red List (Low Evidence).",
"entity_name": "KCNE5",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:33:59.449096+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ10 as ready",
"entity_name": "KCNJ10",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:33:59.438072+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj10 has been classified as Green List (High Evidence).",
"entity_name": "KCNJ10",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:33:44.714090+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Associated with Brugada is DISPUTED.\r\n\r\nRare variants in KCNE5 reported in AF cohorts with some supportive functional data.; to: Association with Brugada is DISPUTED.\r\n\r\nRare variants in KCNE5 reported in AF cohorts with some supportive functional data.",
"entity_name": "KCNE5",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:31:53.212473+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNE5: Rating: RED; Mode of pathogenicity: None; Publications: 18313602, 16054468, 30289750; Phenotypes: Atrial fibrillation; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "KCNE5",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:28:04.260064+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ10 were changed from SESAME syndrome, MIM# 612780 to SESAME syndrome, MIM# 612780",
"entity_name": "KCNJ10",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:27:18.818518+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ10 were changed from to SESAME syndrome, MIM# 612780",
"entity_name": "KCNJ10",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:26:53.184826+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ10 as ready",
"entity_name": "KCNJ10",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:26:53.173631+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj10 has been classified as Green List (High Evidence).",
"entity_name": "KCNJ10",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:26:46.849083+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ10 as ready",
"entity_name": "KCNJ10",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:26:46.837972+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj10 has been classified as Green List (High Evidence).",
"entity_name": "KCNJ10",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:26:40.396402+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ10 were changed from to SESAME syndrome, MIM# 612780",
"entity_name": "KCNJ10",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:26:40.369762+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNJ10 were set to ",
"entity_name": "KCNJ10",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:26:03.081601+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNJ10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KCNJ10",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:25:32.711528+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNJ10 were set to ",
"entity_name": "KCNJ10",
"entity_type": "gene"
},
{
"created": "2022-03-14T17:25:26.466526+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNJ10: Rating: GREEN; Mode of pathogenicity: None; Publications: 19289823, 19420365, 21849804, 11466414; Phenotypes: SESAME syndrome, MIM# 612780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KCNJ10",
"entity_type": "gene"
}
]
}