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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1940",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1938",
"results": [
{
"created": "2020-02-05T16:50:33.112638+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SNX27 as Green List (high evidence)",
"entity_name": "SNX27",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:50:33.088376+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snx27 has been classified as Green List (High Evidence).",
"entity_name": "SNX27",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:49:49.672475+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SNX27 was added\ngene: SNX27 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: SNX27 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SNX27 were set to 25894286; 31721175; 21300787; 23524343\nPhenotypes for gene: SNX27 were set to intellectual disability; seizures\nReview for gene: SNX27 was set to GREEN\nAdded comment: Three unrelated families and animal model. \nSources: Expert Review",
"entity_name": "SNX27",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:41:38.520447+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PUM1 as ready",
"entity_name": "PUM1",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:41:38.508973+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pum1 has been classified as Green List (High Evidence).",
"entity_name": "PUM1",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:40:32.323570+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HMCN1 as ready",
"entity_name": "HMCN1",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:40:32.312873+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hmcn1 has been classified as Red List (Low Evidence).",
"entity_name": "HMCN1",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:39:44.193929+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HMCN1 as Red List (low evidence)",
"entity_name": "HMCN1",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:39:44.183054+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hmcn1 has been classified as Red List (Low Evidence).",
"entity_name": "HMCN1",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:39:34.766103+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: HMCN1: Rating: RED; Mode of pathogenicity: None; Publications: 25986072, 16020313, 14570714; Phenotypes: Age-related macular degeneration; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "HMCN1",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:36:54.934581+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PUM1 were changed from ataxia; intellectual disability; epilepsy to intellectual disability; epilepsy; Spinocerebellar ataxia 47, MIM#\t617931",
"entity_name": "PUM1",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:35:21.548838+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PUM1 as Green List (high evidence)",
"entity_name": "PUM1",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:35:21.524203+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pum1 has been classified as Green List (High Evidence).",
"entity_name": "PUM1",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:34:42.866652+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PUM1 was added\ngene: PUM1 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: PUM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PUM1 were set to 29474920; 25768905; 30903679; 31859446\nPhenotypes for gene: PUM1 were set to ataxia; intellectual disability; epilepsy\nReview for gene: PUM1 was set to GREEN\nAdded comment: More than 10 families reported. Individuals with either PUM1 deletions or de novo missense variants have a developmental syndrome (Pumilio1-associated developmental disability, ataxia, and seizure; PADDAS). One family with milder missense variant and adult-onset ataxia with incomplete penetrance (Pumilio1-related cerebellar ataxia, PRCA) \nSources: Expert Review",
"entity_name": "PUM1",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:29:08.936043+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PMPCB as ready",
"entity_name": "PMPCB",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:29:08.925472+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmpcb has been classified as Green List (High Evidence).",
"entity_name": "PMPCB",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:28:53.047904+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PMPCB as Green List (high evidence)",
"entity_name": "PMPCB",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:28:53.023644+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmpcb has been classified as Green List (High Evidence).",
"entity_name": "PMPCB",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:24:49.618274+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PMPCB was added\ngene: PMPCB was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review\nMode of inheritance for gene: PMPCB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PMPCB were set to 29576218\nPhenotypes for gene: PMPCB were set to Multiple mitochondrial dysfunctions syndrome 6, MIM#\t617954\nReview for gene: PMPCB was set to GREEN\nAdded comment: Five individuals from four families; seizures in 4/5 individuals reported, onset in infancy. \nSources: Expert Review",
"entity_name": "PMPCB",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:22:45.467342+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NSF as ready",
"entity_name": "NSF",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:22:45.456937+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsf has been classified as Amber List (Moderate Evidence).",
"entity_name": "NSF",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:22:16.206947+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NSF as Amber List (moderate evidence)",
"entity_name": "NSF",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:22:16.195967+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsf has been classified as Amber List (Moderate Evidence).",
"entity_name": "NSF",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:21:30.001332+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PMPCB as ready",
"entity_name": "PMPCB",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:21:29.990950+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmpcb has been classified as Green List (High Evidence).",
"entity_name": "PMPCB",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:21:24.723537+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PMPCB as Green List (high evidence)",
"entity_name": "PMPCB",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:21:24.713320+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmpcb has been classified as Green List (High Evidence).",
"entity_name": "PMPCB",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:20:41.339405+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FSCN2 as Red List (low evidence)",
"entity_name": "FSCN2",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:20:41.328159+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fscn2 has been classified as Red List (Low Evidence).",
"entity_name": "FSCN2",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:20:36.111516+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PMPCB was added\ngene: PMPCB was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: PMPCB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PMPCB were set to 29576218\nPhenotypes for gene: PMPCB were set to Multiple mitochondrial dysfunctions syndrome 6, MIM#\t617954\nReview for gene: PMPCB was set to GREEN\nAdded comment: Five individuals from four families; seizures in 4/5 individuals reported, onset in infancy. \nSources: Expert list",
"entity_name": "PMPCB",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:20:31.344533+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FSCN2: Rating: RED; Mode of pathogenicity: None; Publications: 11527955, 16043865, 16280978, 17251446, 18450588; Phenotypes: Retinitis pigmentosa 30 MIM#607921, Macular degeneration; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "FSCN2",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:16:48.556435+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCYT2 as ready",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:16:48.545422+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcyt2 has been classified as Green List (High Evidence).",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:16:41.592504+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PCYT2 as Green List (high evidence)",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:16:41.582110+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcyt2 has been classified as Green List (High Evidence).",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:15:13.588641+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCYT2 was added\ngene: PCYT2 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCYT2 were set to 31637422\nPhenotypes for gene: PCYT2 were set to intellectual disability; regression; spastic para-/tetraparesis; epilepsy; progressive cerebral and cerebellar atrophy\nReview for gene: PCYT2 was set to GREEN\nAdded comment: Five individuals from four families. \nSources: Expert list",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:10:30.132536+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OXR1 as ready",
"entity_name": "OXR1",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:10:30.120131+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oxr1 has been classified as Green List (High Evidence).",
"entity_name": "OXR1",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:09:39.337997+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OXR1 as Green List (high evidence)",
"entity_name": "OXR1",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:09:39.327596+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: oxr1 has been classified as Green List (High Evidence).",
"entity_name": "OXR1",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:08:41.004892+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OXR1 was added\ngene: OXR1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: OXR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OXR1 were set to 31785787; 22028674\nPhenotypes for gene: OXR1 were set to Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, MIM#\t213000\nReview for gene: OXR1 was set to GREEN\nAdded comment: Five individuals from three unrelated families, supportive animal models. \nSources: Literature",
"entity_name": "OXR1",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:03:26.860217+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NSF was added\ngene: NSF was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: NSF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NSF were set to 31675180\nPhenotypes for gene: NSF were set to Seizures; EEG with burst suppression; Global developmental delay; Intellectual disability\nReview for gene: NSF was set to AMBER\nAdded comment: Two individuals reported with de novo missense variants in this gene. \nSources: Literature",
"entity_name": "NSF",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:03:03.924789+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NSF as ready",
"entity_name": "NSF",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:03:03.827551+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsf has been classified as Amber List (Moderate Evidence).",
"entity_name": "NSF",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:01:46.014271+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NSF as Amber List (moderate evidence)",
"entity_name": "NSF",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:01:46.003727+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsf has been classified as Amber List (Moderate Evidence).",
"entity_name": "NSF",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:01:26.731411+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NSF was added\ngene: NSF was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NSF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NSF were set to 31675180\nPhenotypes for gene: NSF were set to Seizures; EEG with burst suppression; Global developmental delay; Intellectual disability\nReview for gene: NSF was set to AMBER\nAdded comment: Two individuals reported with de novo missense variants in this gene. \nSources: Literature",
"entity_name": "NSF",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:00:50.162955+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NSF as ready",
"entity_name": "NSF",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:00:50.149365+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsf has been classified as Amber List (Moderate Evidence).",
"entity_name": "NSF",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:00:30.638960+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NSF as Amber List (moderate evidence)",
"entity_name": "NSF",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:00:30.614032+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsf has been classified as Amber List (Moderate Evidence).",
"entity_name": "NSF",
"entity_type": "gene"
},
{
"created": "2020-02-05T15:59:14.346791+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NSF was added\ngene: NSF was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: NSF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NSF were set to 31675180\nPhenotypes for gene: NSF were set to Seizures; EEG with burst suppression; Global developmental delay; Intellectual disability\nReview for gene: NSF was set to AMBER\nAdded comment: Two individuals reported with de novo missense variants in this gene. \nSources: Literature",
"entity_name": "NSF",
"entity_type": "gene"
},
{
"created": "2020-02-05T15:53:35.583271+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KAT8 as ready",
"entity_name": "KAT8",
"entity_type": "gene"
},
{
"created": "2020-02-05T15:53:35.571620+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kat8 has been classified as Green List (High Evidence).",
"entity_name": "KAT8",
"entity_type": "gene"
},
{
"created": "2020-02-05T15:52:52.576541+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KAT8 as Green List (high evidence)",
"entity_name": "KAT8",
"entity_type": "gene"
},
{
"created": "2020-02-05T15:52:52.565974+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kat8 has been classified as Green List (High Evidence).",
"entity_name": "KAT8",
"entity_type": "gene"
},
{
"created": "2020-02-05T15:52:37.119733+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PITPNM3 as Red List (low evidence)",
"entity_name": "PITPNM3",
"entity_type": "gene"
},
{
"created": "2020-02-05T15:52:37.108838+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pitpnm3 has been classified as Red List (Low Evidence).",
"entity_name": "PITPNM3",
"entity_type": "gene"
},
{
"created": "2020-02-05T15:52:26.828424+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: PITPNM3: Rating: RED; Mode of pathogenicity: None; Publications: 17377520, 22405330; Phenotypes: Cone-rod dystrophy 5 MIM#600977; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "PITPNM3",
"entity_type": "gene"
},
{
"created": "2020-02-05T15:52:20.534352+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KAT8 as ready",
"entity_name": "KAT8",
"entity_type": "gene"
},
{
"created": "2020-02-05T15:52:20.523623+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kat8 has been classified as Green List (High Evidence).",
"entity_name": "KAT8",
"entity_type": "gene"
},
{
"created": "2020-02-05T15:52:13.093047+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KAT8 was added\ngene: KAT8 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KAT8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KAT8 were set to 31794431\nPhenotypes for gene: KAT8 were set to Intellectual disability; seizures; autism; dysmorphic features\nReview for gene: KAT8 was set to GREEN\nAdded comment: Eight unrelated individuals reported with de novo variants in this gene and a mouse model. All variants missense, in the chromobarrel domain or the acetyltransferase domain; three individuals had the same variant p.Tyr90Cys . One more individual reported with bi-allelic variants: one missense and one frameshift; carrier parents were normal suggesting that may be haploinsuffiency is not the mechanism. \nSources: Literature",
"entity_name": "KAT8",
"entity_type": "gene"
},
{
"created": "2020-02-05T15:51:50.524274+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KAT8 as Green List (high evidence)",
"entity_name": "KAT8",
"entity_type": "gene"
},
{
"created": "2020-02-05T15:51:50.513821+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kat8 has been classified as Green List (High Evidence).",
"entity_name": "KAT8",
"entity_type": "gene"
},
{
"created": "2020-02-05T15:50:17.747999+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KAT8 was added\ngene: KAT8 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: KAT8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KAT8 were set to 31794431\nPhenotypes for gene: KAT8 were set to Intellectual disability; seizures; autism; dysmorphic features\nReview for gene: KAT8 was set to GREEN\nAdded comment: Eight unrelated individuals reported with de novo variants in this gene and a mouse model. All variants missense, in the chromobarrel domain or the acetyltransferase domain; three individuals had the same variant p.Tyr90Cys . One more individual reported with bi-allelic variants: one missense and one frameshift; carrier parents were normal suggesting that may be haploinsuffiency is not the mechanism. \nSources: Literature",
"entity_name": "KAT8",
"entity_type": "gene"
},
{
"created": "2020-02-05T15:49:39.411185+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KAT8 as ready",
"entity_name": "KAT8",
"entity_type": "gene"
},
{
"created": "2020-02-05T15:49:39.398888+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kat8 has been classified as Green List (High Evidence).",
"entity_name": "KAT8",
"entity_type": "gene"
},
{
"created": "2020-02-05T15:48:44.971524+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KAT8 as Green List (high evidence)",
"entity_name": "KAT8",
"entity_type": "gene"
},
{
"created": "2020-02-05T15:48:44.947168+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kat8 has been classified as Green List (High Evidence).",
"entity_name": "KAT8",
"entity_type": "gene"
},
{
"created": "2020-02-05T15:47:21.304607+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KAT8 was added\ngene: KAT8 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: KAT8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KAT8 were set to 31794431\nPhenotypes for gene: KAT8 were set to Intellectual disability; seizures; autism; dysmorphic features\nReview for gene: KAT8 was set to GREEN\nAdded comment: Eight unrelated individuals reported with de novo variants in this gene and a mouse model. All variants missense, in the chromobarrel domain or the acetyltransferase domain; three individuals had the same variant p.Tyr90Cys . One more individual reported with bi-allelic variants: one missense and one frameshift; carrier parents were normal suggesting that may be haploinsuffiency is not the mechanism. \nSources: Literature",
"entity_name": "KAT8",
"entity_type": "gene"
},
{
"created": "2020-02-05T15:40:37.126500+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN9A as ready",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2020-02-05T15:40:37.115588+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn9a has been classified as Amber List (Moderate Evidence).",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2020-02-05T15:40:00.845875+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN9A were changed from to {Dravet syndrome, modifier of} MIM#607208; Epilepsy, generalized, with febrile seizures plus, type 7 MIM#613863; Febrile seizures, familial, 3B MIM#613863",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2020-02-05T15:39:28.251873+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCN9A were set to ",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2020-02-05T15:38:55.369416+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN9A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2020-02-05T15:38:01.913436+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCN9A as Amber List (moderate evidence)",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2020-02-05T15:38:01.901992+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn9a has been classified as Amber List (Moderate Evidence).",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2020-02-05T15:37:18.702236+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCN9A: Rating: AMBER; Mode of pathogenicity: None; Publications: 19763161, 29500686, 30834459, 23895530; Phenotypes: {Dravet syndrome, modifier of} MIM#607208, Epilepsy, generalized, with febrile seizures plus, type 7 MIM#613863, Febrile seizures, familial, 3B MIM#613863; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2020-02-05T15:27:29.091274+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-05T15:26:30.638305+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Macular Dystrophy/Stargardt Disease_RMH to Macular Dystrophy/Stargardt Disease\nPanel status changed from internal to public",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-05T15:24:48.299482+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RBP3 as Amber List (moderate evidence)",
"entity_name": "RBP3",
"entity_type": "gene"
},
{
"created": "2020-02-05T15:24:48.288537+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rbp3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RBP3",
"entity_type": "gene"
},
{
"created": "2020-02-05T15:24:38.632232+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: RBP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 25766589, 19074801; Phenotypes: Retinitis pigmentosa 66 MIM#615233; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RBP3",
"entity_type": "gene"
},
{
"created": "2020-02-05T15:10:07.305512+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PRDM13 as Red List (low evidence)",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2020-02-05T15:10:07.300556+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Not detectable with WES",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2020-02-05T15:10:07.273899+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: prdm13 has been classified as Red List (Low Evidence).",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2020-02-05T15:09:49.909792+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: PRDM13: Rating: RED; Mode of pathogenicity: Other; Publications: 28973654, 26507665; Phenotypes: Macular dystrophy, North Carolina type MIM#136550; Mode of inheritance: None",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2020-02-05T15:00:23.011795+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: PRDM13.",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2020-02-05T14:56:17.391876+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CFH as Green List (high evidence)",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2020-02-05T14:56:17.381243+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cfh has been classified as Green List (High Evidence).",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2020-02-05T14:56:06.564765+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: CFH: Rating: GREEN; Mode of pathogenicity: None; Publications: 27572114, 25814826; Phenotypes: Basal laminar drusen MIM#126700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2020-02-05T10:29:01.679930+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1980",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: TRAPPC9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30853973; Phenotypes: Intellectual disability, autosomal recessive 13 (MIM# 613192); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2020-02-05T10:03:38.551187+11:00",
"panel_name": "Renal Cystic Disease_SuperPanel",
"panel_id": 263,
"panel_version": "0.116",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel status changed from promoted to public\nPanel types changed to Superpanel; Victorian Clinical Genetics Services; KidGen; Royal Melbourne Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-05T08:34:03.273902+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLRA1 as ready",
"entity_name": "GLRA1",
"entity_type": "gene"
},
{
"created": "2020-02-05T08:34:03.262974+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glra1 has been classified as Red List (Low Evidence).",
"entity_name": "GLRA1",
"entity_type": "gene"
},
{
"created": "2020-02-05T08:33:50.164978+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLRA1 were changed from Hyperekplexia 1, MIM# 149400 to Hyperekplexia 1, MIM# 149400",
"entity_name": "GLRA1",
"entity_type": "gene"
},
{
"created": "2020-02-05T08:33:09.002640+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLRA1 were changed from to Hyperekplexia 1, MIM# 149400",
"entity_name": "GLRA1",
"entity_type": "gene"
},
{
"created": "2020-02-05T08:32:31.276686+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLRA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GLRA1",
"entity_type": "gene"
},
{
"created": "2020-02-05T08:31:59.794861+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GLRA1 as Red List (low evidence)",
"entity_name": "GLRA1",
"entity_type": "gene"
},
{
"created": "2020-02-05T08:31:59.782939+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glra1 has been classified as Red List (Low Evidence).",
"entity_name": "GLRA1",
"entity_type": "gene"
}
]
}