HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1939",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1937",
"results": [
{
"created": "2020-02-06T16:27:50.418902+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NR4A2 as Red List (low evidence)",
"entity_name": "NR4A2",
"entity_type": "gene"
},
{
"created": "2020-02-06T16:27:50.407797+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nr4a2 has been classified as Red List (Low Evidence).",
"entity_name": "NR4A2",
"entity_type": "gene"
},
{
"created": "2020-02-06T16:27:10.712305+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: NR4A2: Rating: RED; Mode of pathogenicity: None; Publications: 12756136, 9092472; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "NR4A2",
"entity_type": "gene"
},
{
"created": "2020-02-06T16:15:17.008161+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: MATR3: Rating: AMBER; Mode of pathogenicity: None; Publications: 24686783, 30015619; Phenotypes: Amyotrophic lateral sclerosis 21 MIM#606070; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "MATR3",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:56:36.310243+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: LRRK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17060595, 31038182, 27521182, 28487191; Phenotypes: Parkinson disease 8 MIM#607060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "LRRK2",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:31:55.260777+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ALS2 as Red List (low evidence)",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:31:55.250023+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.6",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: als2 has been classified as Red List (Low Evidence).",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:31:27.645639+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ALS2 as Red List (low evidence)",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:31:27.633582+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: als2 has been classified as Red List (Low Evidence).",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:30:58.063564+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HTRA2 as Red List (low evidence)",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:30:58.052021+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: htra2 has been classified as Red List (Low Evidence).",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:29:54.836324+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: HTRA2: Rating: RED; Mode of pathogenicity: None; Publications: 18800009; Phenotypes: Parkinson disease 13 MIM#610297, 3-methylglutaconic aciduria, type VIII MIM#617248; Mode of inheritance: None",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:26:25.652150+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBR4 were changed from Episodic ataxia; progressive neurological deterioration to Episodic ataxia; progressive neurological deterioration",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:26:22.200531+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBR4 as ready",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:26:22.188623+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ubr4 has been classified as Red List (Low Evidence).",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:25:59.216927+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBR4 were changed from to Episodic ataxia; progressive neurological deterioration",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:25:31.462549+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBR4 were set to ",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:25:02.750293+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UBR4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:24:32.117180+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UBR4 as Red List (low evidence)",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:24:32.106530+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ubr4 has been classified as Red List (Low Evidence).",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:23:53.304862+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBR4 as ready",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:23:53.294348+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ubr4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:23:46.745952+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UBR4: Rating: RED; Mode of pathogenicity: None; Publications: 29062094, 23982692, 28600779; Phenotypes: Episodic ataxia, progressive neurological deterioration; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:23:31.289821+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBR4 were changed from to Episodic ataxia; progressive neurological deterioration",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:23:22.530792+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBR4 were set to ",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:23:07.349162+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UBR4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:22:22.847850+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UBR4 as Amber List (moderate evidence)",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:22:22.835732+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ubr4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:22:02.906579+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UBR4: Rating: AMBER; Mode of pathogenicity: None; Publications: 29062094, 23982692, 28600779; Phenotypes: Episodic ataxia, progressive neurological deterioration; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:19:47.894167+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBR4 as ready",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:19:47.883707+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ubr4 has been classified as Red List (Low Evidence).",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:19:35.366909+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBR4 were changed from Episodic ataxia to Episodic ataxia",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:19:00.724225+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBR4 were changed from to Episodic ataxia",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:18:27.022314+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBR4 were set to ",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:17:45.809375+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UBR4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:17:08.327253+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UBR4 as Red List (low evidence)",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:17:08.316722+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ubr4 has been classified as Red List (Low Evidence).",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:16:26.197645+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UBR4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:06:30.577935+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1992",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: UBR4: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29062094, 23982692, 28600779; Phenotypes: Episodic ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UBR4",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:06:09.406523+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HTRA1 as Green List (high evidence)",
"entity_name": "HTRA1",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:06:09.394914+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: htra1 has been classified as Green List (High Evidence).",
"entity_name": "HTRA1",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:05:41.657395+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HTRA1 as Green List (high evidence)",
"entity_name": "HTRA1",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:05:41.631854+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: htra1 has been classified as Green List (High Evidence).",
"entity_name": "HTRA1",
"entity_type": "gene"
},
{
"created": "2020-02-06T15:04:50.277736+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HTRA1 was added\ngene: HTRA1 was added to Early-onset Dementia. Sources: Expert list\nMode of inheritance for gene: HTRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: HTRA1 were set to 29895533; 26063658; 19387015\nPhenotypes for gene: HTRA1 were set to CARASIL syndrome MIM#600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 MIM#616779\nReview for gene: HTRA1 was set to GREEN\nAdded comment: Dementia or cognitive decline have been reported in >3 cases with recessive and dominant disease. \nSources: Expert list",
"entity_name": "HTRA1",
"entity_type": "gene"
},
{
"created": "2020-02-06T14:52:17.810571+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1262",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: HDAC4: Rating: AMBER; Mode of pathogenicity: Other; Publications: PMID: 24715439, 20691407, 31209962; Phenotypes: Brachydactyly mental retardation syndrome, Brachydactyly without intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T14:37:51.123042+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: GCH1: Rating: RED; Mode of pathogenicity: None; Publications: 29948246; Phenotypes: Dystonia, DOPA-responsive, with or without hyperphenylalaninemia MIM#128230, Hyperphenylalaninemia, BH4-deficient, B MIM#233910; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2020-02-06T14:25:04.688381+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FIG4: Rating: RED; Mode of pathogenicity: None; Publications: 28889094, 19118816; Phenotypes: Amyotrophic lateral sclerosis 11 MIM#612577, Charcot-Marie-Tooth disease, type 4J MIM#611228; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2020-02-06T13:31:15.080081+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CP was added\ngene: CP was added to Early-onset Dementia. Sources: Expert list\nMode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CP were set to 7539672; https://doi.org/10.1093/qjmed/89.5.355; 28874056; 28012953\nPhenotypes for gene: CP were set to Hemosiderosis, systemic, due to aceruloplasminemia MIM#604290\nReview for gene: CP was set to GREEN\nAdded comment: >3 cases have been reported with dementia/cognitive decline as a feature of the condition. Cp-/- mice have increased memory impairment and iron accumulation and high expression of CP could have a protective role in Alzheimer's disease. \nSources: Expert list",
"entity_name": "CP",
"entity_type": "gene"
},
{
"created": "2020-02-06T13:19:00.606487+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.594",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Rare Disease; Royal Melbourne Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-06T13:08:05.379491+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1262",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: RCC1L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "RCC1L",
"entity_type": "gene"
},
{
"created": "2020-02-06T12:28:50.518646+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GMNN as ready",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2020-02-06T12:28:50.507433+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gmnn has been classified as Green List (High Evidence).",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2020-02-06T12:28:39.372328+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GMNN were changed from to Meier-Gorlin syndrome 6, MIM# 616835",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2020-02-06T12:28:15.830655+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GMNN were set to ",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2020-02-06T12:27:54.123786+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GMNN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2020-02-06T12:27:32.946947+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GMNN: Rating: GREEN; Mode of pathogenicity: None; Publications: 26637980; Phenotypes: Meier-Gorlin syndrome 6, MIM# 616835; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2020-02-06T12:25:45.209596+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GMNN as ready",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2020-02-06T12:25:45.193899+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gmnn has been classified as Amber List (Moderate Evidence).",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2020-02-06T12:25:34.576354+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GMNN as Amber List (moderate evidence)",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2020-02-06T12:25:34.551831+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gmnn has been classified as Amber List (Moderate Evidence).",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2020-02-06T12:24:37.107477+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GMNN was added\ngene: GMNN was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: GMNN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GMNN were set to 26637980\nPhenotypes for gene: GMNN were set to Meier-Gorlin syndrome 6, MIM#\t616835\nReview for gene: GMNN was set to AMBER\nAdded comment: Two of the three reported individuals had ID. \nSources: Expert list",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2020-02-06T09:11:11.742983+11:00",
"panel_name": "Haematuria/Alport",
"panel_id": 39,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag Medicare tag was added to gene: COL4A5.",
"entity_name": "COL4A5",
"entity_type": "gene"
},
{
"created": "2020-02-06T09:10:26.992752+11:00",
"panel_name": "Haematuria/Alport",
"panel_id": 39,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag Medicare tag was added to gene: COL4A4.",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2020-02-06T09:10:01.968867+11:00",
"panel_name": "Haematuria/Alport",
"panel_id": 39,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag Medicare tag was added to gene: COL4A3.",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2020-02-06T09:06:38.934652+11:00",
"panel_name": "Haematuria/Alport",
"panel_id": 39,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel name changed from Haematuria to Haematuria/Alport\nPanel types changed to Victorian Clinical Genetics Services; KidGen; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-05T22:00:49.462343+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ATP7B: Rating: RED; Mode of pathogenicity: None; Publications: 26758278, 25988284, 26758278; Phenotypes: Wilson disease MIM#277900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2020-02-05T17:31:38.190568+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAPPC4 as ready",
"entity_name": "TRAPPC4",
"entity_type": "gene"
},
{
"created": "2020-02-05T17:31:38.178881+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trappc4 has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC4",
"entity_type": "gene"
},
{
"created": "2020-02-05T17:31:33.140300+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAPPC4 as ready",
"entity_name": "TRAPPC4",
"entity_type": "gene"
},
{
"created": "2020-02-05T17:31:33.129537+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trappc4 has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC4",
"entity_type": "gene"
},
{
"created": "2020-02-05T17:31:20.841533+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRAPPC4 as Green List (high evidence)",
"entity_name": "TRAPPC4",
"entity_type": "gene"
},
{
"created": "2020-02-05T17:31:20.830681+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trappc4 has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC4",
"entity_type": "gene"
},
{
"created": "2020-02-05T17:31:16.967673+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAPPC4 as ready",
"entity_name": "TRAPPC4",
"entity_type": "gene"
},
{
"created": "2020-02-05T17:31:16.955220+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trappc4 has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC4",
"entity_type": "gene"
},
{
"created": "2020-02-05T17:31:06.598581+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRAPPC4 as Green List (high evidence)",
"entity_name": "TRAPPC4",
"entity_type": "gene"
},
{
"created": "2020-02-05T17:31:06.586196+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trappc4 has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC4",
"entity_type": "gene"
},
{
"created": "2020-02-05T17:30:29.258635+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRAPPC4 was added\ngene: TRAPPC4 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: TRAPPC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAPPC4 were set to 31794024\nPhenotypes for gene: TRAPPC4 were set to intellectual disability; epilepsy; spasticity; microcephaly\nReview for gene: TRAPPC4 was set to GREEN\nAdded comment: Seven individuals from three unrelated families reported; recurrent splice site variant (hg19:chr11:g.118890966A>G; TRAPPC4: NM_016146.5; c.454+3A>G), not a founder variant. \nSources: Expert Review",
"entity_name": "TRAPPC4",
"entity_type": "gene"
},
{
"created": "2020-02-05T17:29:27.397579+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1989",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRAPPC4 was added\ngene: TRAPPC4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review\nMode of inheritance for gene: TRAPPC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAPPC4 were set to 31794024\nPhenotypes for gene: TRAPPC4 were set to intellectual disability; epilepsy; spasticity; microcephaly\nReview for gene: TRAPPC4 was set to GREEN\nAdded comment: Seven individuals from three unrelated families reported; recurrent splice site variant (hg19:chr11:g.118890966A>G; TRAPPC4: NM_016146.5; c.454+3A>G), not a founder variant. \nSources: Expert Review",
"entity_name": "TRAPPC4",
"entity_type": "gene"
},
{
"created": "2020-02-05T17:28:31.090864+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRAPPC4 as Green List (high evidence)",
"entity_name": "TRAPPC4",
"entity_type": "gene"
},
{
"created": "2020-02-05T17:28:31.080470+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trappc4 has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC4",
"entity_type": "gene"
},
{
"created": "2020-02-05T17:27:45.395360+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ANG: Rating: RED; Mode of pathogenicity: None; Publications: 19153377; Phenotypes: Amyotrophic lateral sclerosis 9 MIM#611895; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ANG",
"entity_type": "gene"
},
{
"created": "2020-02-05T17:27:22.420949+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRAPPC4 was added\ngene: TRAPPC4 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: TRAPPC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAPPC4 were set to 31794024\nPhenotypes for gene: TRAPPC4 were set to intellectual disability; epilepsy; spasticity; microcephaly\nReview for gene: TRAPPC4 was set to GREEN\nAdded comment: Seven individuals from three unrelated families reported; recurrent splice site variant (hg19:chr11:g.118890966A>G; TRAPPC4: NM_016146.5; c.454+3A>G), not a founder variant. \nSources: Expert Review",
"entity_name": "TRAPPC4",
"entity_type": "gene"
},
{
"created": "2020-02-05T17:13:00.625175+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMX2 as ready",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2020-02-05T17:13:00.614672+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmx2 has been classified as Green List (High Evidence).",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2020-02-05T17:12:56.483749+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMX2 as Green List (high evidence)",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2020-02-05T17:12:56.460365+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmx2 has been classified as Green List (High Evidence).",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2020-02-05T17:12:01.964960+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMX2 was added\ngene: TMX2 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMX2 were set to 31735293; 31586943\nPhenotypes for gene: TMX2 were set to Microcephaly; ID; brain malformations; seizures\nReview for gene: TMX2 was set to GREEN\nAdded comment: 14 individuals from 10 unrelated families with bi-allelic variants in this gene (31735293) and another four families with recurrent variant (31586943). \nSources: Expert Review",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2020-02-05T17:04:33.679736+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ALS2: Rating: RED; Mode of pathogenicity: None; Publications: 31405128, 12145748, 24562058; Phenotypes: Amyotrophic lateral sclerosis 2, juvenile MIM#205100, Primary lateral sclerosis, juvenile MIM#606353, Spastic paralysis, infantile onset ascending MIM#607225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2020-02-05T17:00:54.848310+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNX27 as ready",
"entity_name": "SNX27",
"entity_type": "gene"
},
{
"created": "2020-02-05T17:00:54.837778+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1988",
"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": "2020-02-05T17:00:42.944115+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNX27 as ready",
"entity_name": "SNX27",
"entity_type": "gene"
},
{
"created": "2020-02-05T17:00:42.933177+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1257",
"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": "2020-02-05T16:55:27.984649+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SNX27 as Green List (high evidence)",
"entity_name": "SNX27",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:55:27.973966+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1988",
"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": "2020-02-05T16:54:46.105916+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SNX27 as Green List (high evidence)",
"entity_name": "SNX27",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:54:46.091886+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1257",
"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": "2020-02-05T16:53:36.692724+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SNX27 was added\ngene: SNX27 was added to Intellectual disability syndromic and non-syndromic. 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": "2020-02-05T16:53:09.544110+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SNX27 was added\ngene: SNX27 was added to Mendeliome. 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": "2020-02-05T16:50:48.615839+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNX27 as ready",
"entity_name": "SNX27",
"entity_type": "gene"
},
{
"created": "2020-02-05T16:50:48.604665+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"
}
]
}