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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1938",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1936",
"results": [
{
"created": "2020-02-06T20:20:26.586851+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MATR3 as ready",
"entity_name": "MATR3",
"entity_type": "gene"
},
{
"created": "2020-02-06T20:20:26.562669+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: matr3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MATR3",
"entity_type": "gene"
},
{
"created": "2020-02-06T20:19:26.045154+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: MATR3 were changed from to Amyotrophic lateral sclerosis 21 MIM#606070",
"entity_name": "MATR3",
"entity_type": "gene"
},
{
"created": "2020-02-06T20:17:45.114497+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.28",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: MATR3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "MATR3",
"entity_type": "gene"
},
{
"created": "2020-02-06T20:16:29.842100+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.27",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: PARK7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PARK7",
"entity_type": "gene"
},
{
"created": "2020-02-06T20:13:06.582533+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: LRRK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "LRRK2",
"entity_type": "gene"
},
{
"created": "2020-02-06T20:09:55.285460+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TAF15 as Amber List (moderate evidence)",
"entity_name": "TAF15",
"entity_type": "gene"
},
{
"created": "2020-02-06T20:09:55.261376+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: taf15 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TAF15",
"entity_type": "gene"
},
{
"created": "2020-02-06T20:08:32.519325+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RNF216 as Green List (high evidence)",
"entity_name": "RNF216",
"entity_type": "gene"
},
{
"created": "2020-02-06T20:08:32.508409+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rnf216 has been classified as Green List (High Evidence).",
"entity_name": "RNF216",
"entity_type": "gene"
},
{
"created": "2020-02-06T20:08:07.417258+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RNF216 as Green List (high evidence)",
"entity_name": "RNF216",
"entity_type": "gene"
},
{
"created": "2020-02-06T20:08:07.406218+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rnf216 has been classified as Green List (High Evidence).",
"entity_name": "RNF216",
"entity_type": "gene"
},
{
"created": "2020-02-06T20:07:47.073318+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RNF216 as ready",
"entity_name": "RNF216",
"entity_type": "gene"
},
{
"created": "2020-02-06T20:07:47.059302+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rnf216 has been classified as Red List (Low Evidence).",
"entity_name": "RNF216",
"entity_type": "gene"
},
{
"created": "2020-02-06T20:07:09.318753+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CP as Green List (high evidence)",
"entity_name": "CP",
"entity_type": "gene"
},
{
"created": "2020-02-06T20:07:09.294958+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cp has been classified as Green List (High Evidence).",
"entity_name": "CP",
"entity_type": "gene"
},
{
"created": "2020-02-06T20:05:03.924639+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MATR3 as Amber List (moderate evidence)",
"entity_name": "MATR3",
"entity_type": "gene"
},
{
"created": "2020-02-06T20:05:03.914090+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: matr3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MATR3",
"entity_type": "gene"
},
{
"created": "2020-02-06T20:02:25.947872+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GCH1 as Red List (low evidence)",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2020-02-06T20:02:25.937081+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gch1 has been classified as Red List (Low Evidence).",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2020-02-06T20:01:02.460428+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FIG4 as Red List (low evidence)",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2020-02-06T20:01:02.455336+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: ALS-FTD not a prominent phenotype",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2020-02-06T20:01:02.428290+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fig4 has been classified as Red List (Low Evidence).",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2020-02-06T19:59:05.030451+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ATP7B as ready",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2020-02-06T19:59:05.018734+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atp7b has been classified as Red List (Low Evidence).",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2020-02-06T19:57:18.881861+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ATP7B as Red List (low evidence)",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2020-02-06T19:57:18.871092+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atp7b has been classified as Red List (Low Evidence).",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2020-02-06T19:54:49.562374+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ANG as Red List (low evidence)",
"entity_name": "ANG",
"entity_type": "gene"
},
{
"created": "2020-02-06T19:54:49.557447+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Not a prominent ALS-FTD phenotype",
"entity_name": "ANG",
"entity_type": "gene"
},
{
"created": "2020-02-06T19:54:49.530837+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ang has been classified as Red List (Low Evidence).",
"entity_name": "ANG",
"entity_type": "gene"
},
{
"created": "2020-02-06T19:11:29.417838+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: WDR45 as Green List (high evidence)",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2020-02-06T19:11:29.394275+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: wdr45 has been classified as Green List (High Evidence).",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2020-02-06T19:10:40.790919+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: De novo variants identified in 5 cases with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA), which included dementia as a feature. \nSources: Expert list; to: De novo variants identified in 5 female cases with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA), which included dementia as a feature. \r\nSources: Expert list",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2020-02-06T19:09:59.059303+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: WDR45 was added\ngene: WDR45 was added to Early-onset Dementia. Sources: Expert list\nMode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: WDR45 were set to 23435086\nPhenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5 MIM#300894\nReview for gene: WDR45 was set to GREEN\nAdded comment: De novo variants identified in 5 cases with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA), which included dementia as a feature. \nSources: Expert list",
"entity_name": "WDR45",
"entity_type": "gene"
},
{
"created": "2020-02-06T19:02:17.354560+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: VPS35: Rating: ; Mode of pathogenicity: None; Publications: 31686421, 22105352; Phenotypes: {Parkinson disease 17} MIM#614203; Mode of inheritance: None",
"entity_name": "VPS35",
"entity_type": "gene"
},
{
"created": "2020-02-06T18:43:04.178074+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.595",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Epilepsy has been reported as a symptom at onset of the condition in >3 unrelated cases. \nSources: Literature; to: Epilepsy has been reported as a symptom at onset of the condition in at least 8 unrelated cases. \r\nSources: Literature",
"entity_name": "VPS13A",
"entity_type": "gene"
},
{
"created": "2020-02-06T18:39:27.017464+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.595",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: VPS13A was added\ngene: VPS13A was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS13A were set to 26813249; 30140251; 31192303\nPhenotypes for gene: VPS13A were set to Choreoacanthocytosis MIM#200150\nReview for gene: VPS13A was set to GREEN\nAdded comment: Epilepsy has been reported as a symptom at onset of the condition in >3 unrelated cases. \nSources: Literature",
"entity_name": "VPS13A",
"entity_type": "gene"
},
{
"created": "2020-02-06T18:32:00.788533+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: VPS13A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26813249, 15824261, 30140251, 31192303; Phenotypes: Choreoacanthocytosis MIM#200150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS13A",
"entity_type": "gene"
},
{
"created": "2020-02-06T18:18:17.272700+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: VAPB as Red List (low evidence)",
"entity_name": "VAPB",
"entity_type": "gene"
},
{
"created": "2020-02-06T18:18:17.261972+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: vapb has been classified as Red List (Low Evidence).",
"entity_name": "VAPB",
"entity_type": "gene"
},
{
"created": "2020-02-06T18:17:40.546531+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: VAPB: Rating: RED; Mode of pathogenicity: None; Publications: 31873036, 31089860; Phenotypes: Amyotrophic lateral sclerosis 8 MIM#608627, Spinal muscular atrophy, late-onset, Finkel type MIM#182980; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "VAPB",
"entity_type": "gene"
},
{
"created": "2020-02-06T18:04:47.548371+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: UCHL1 as Red List (low evidence)",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2020-02-06T18:04:47.537808+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: uchl1 has been classified as Red List (Low Evidence).",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2020-02-06T18:04:09.609738+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: UCHL1: Rating: RED; Mode of pathogenicity: None; Publications: 27231703, 15297154; Phenotypes: Spastic paraplegia 79, autosomal recessive MIM#615491; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:48:08.986028+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TH as Red List (low evidence)",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:48:08.975250+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: th has been classified as Red List (Low Evidence).",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:47:30.216206+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: TH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Segawa syndrome, recessive MIM#605407; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:41:50.538208+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TAF15 was added\ngene: TAF15 was added to Early-onset Dementia. Sources: Expert list\nMode of inheritance for gene: TAF15 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TAF15 were set to 28889094\nPhenotypes for gene: TAF15 were set to Amyotrophic lateral sclerosis; Frontotemporal dementia\nReview for gene: TAF15 was set to AMBER\nAdded comment: Two missense variants identified in two unrelated cases with a similar phenotype which included low motor neuron predominant signs, behavioural variant FTD and movement disorders, and in one patient, neuropathology showed a frontotemporal lobar degeneration pattern. \nSources: Expert list",
"entity_name": "TAF15",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:24:07.588353+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: None; Publications: 27318863, 28237315, 18079167; Phenotypes: Spastic paraplegia 11, autosomal recessive MIM#604360, Charcot-Marie-Tooth disease, axonal, type 2X MIM#616668, Amyotrophic lateral sclerosis 5, juvenile MIM#602099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:17:35.198598+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SPART as Red List (low evidence)",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:17:35.187712+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: spart has been classified as Red List (Low Evidence).",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:17:06.298747+11:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HDAC4 were set to 24715439; 20691407; 31209962",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:17:04.507748+11:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HDAC4 as ready",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:17:04.422371+11:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hdac4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:16:38.324780+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: SPART: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Troyer syndrome MIM#275900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPART",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:16:36.921050+11:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HDAC4 were changed from Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability to Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:16:10.800969+11:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HDAC4 were changed from to Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:15:45.164911+11:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HDAC4 were set to ",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:15:16.152920+11:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HDAC4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:14:47.773189+11:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HDAC4 as Amber List (moderate evidence)",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:14:47.762562+11:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hdac4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:14:10.105986+11:00",
"panel_name": "Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy",
"panel_id": 161,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HDAC4: Rating: AMBER; Mode of pathogenicity: None; Publications: 24715439, 20691407, 31209962; Phenotypes: Brachydactyly mental retardation syndrome, Brachydactyly without intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:13:13.931587+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HDAC4 as ready",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:13:13.920541+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hdac4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:13:02.861996+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HDAC4 were changed from Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability to Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:12:26.541159+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2000",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HDAC4 were changed from to Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:11:52.364904+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HDAC4 were set to ",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:11:34.091728+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SOD1 as Red List (low evidence)",
"entity_name": "SOD1",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:11:34.080012+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sod1 has been classified as Red List (Low Evidence).",
"entity_name": "SOD1",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:11:25.619199+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HDAC4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:10:43.809892+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: SOD1: Rating: RED; Mode of pathogenicity: None; Publications: 19252762, 20577002; Phenotypes: Amyotrophic lateral sclerosis 1 MIM#105400, Spastic tetraplegia and axial hypotonia, progressive MIM#618598; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SOD1",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:09:11.935258+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HDAC4 as Amber List (moderate evidence)",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:09:11.924710+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hdac4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:08:07.927953+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HDAC4 as ready",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:08:07.917052+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hdac4 has been classified as Red List (Low Evidence).",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:08:00.285300+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HDAC4 were changed from to Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:07:25.182116+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HDAC4 were set to ",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:06:52.872241+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HDAC4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:06:03.869380+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HDAC4 as Red List (low evidence)",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:06:03.858632+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hdac4 has been classified as Red List (Low Evidence).",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:05:10.079612+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HDAC4: Rating: RED; Mode of pathogenicity: None; Publications: 24715439, 20691407, 31209962; Phenotypes: Brachydactyly mental retardation syndrome, Brachydactyly without intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:03:54.512444+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Comment when marking as ready: Contradictory evidence: deletions linked to brachydactyly-MR but note some individuals reported without MR. Only reports of intragenic variants (still structural rather than SNVs).; to: Comment when marking as ready: Contradictory evidence: deletions linked to brachydactyly-MR but note some individuals reported without MR. Only two reports of intragenic variants (still structural rather than SNVs).",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:03:45.141118+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": "reviewed gene: HDAC4: Rating: AMBER; Mode of pathogenicity: None; Publications: 24715439, 20691407, 31209962; Phenotypes: Brachydactyly mental retardation syndrome, Brachydactyly without intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:02:52.228326+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SETX as Red List (low evidence)",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:02:52.217851+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: setx has been classified as Red List (Low Evidence).",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:02:15.297268+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: SETX: Rating: RED; Mode of pathogenicity: None; Publications: 24694197; Phenotypes: Amyotrophic lateral sclerosis 4, juvenile MIM#602433, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MIM#606002; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SETX",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:00:23.682504+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HDAC4 as ready",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:00:23.677630+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Contradictory evidence: deletions linked to brachydactyly-MR but note some individuals reported without MR. Only reports of intragenic variants (still structural rather than SNVs).",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T17:00:23.638701+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hdac4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T16:58:28.277822+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RNF216 was added\ngene: RNF216 was added to Early-onset Dementia. Sources: Expert list\nMode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNF216 were set to 23656588; 25841028; 27995769\nPhenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840\nReview for gene: RNF216 was set to GREEN\nAdded comment: At least 3 families reported with dementia as a feature of the condition. Mouse model has deficits in spatial learning and memory. \nSources: Expert list",
"entity_name": "RNF216",
"entity_type": "gene"
},
{
"created": "2020-02-06T16:58:19.362930+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HDAC4 were changed from to Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T16:57:57.583628+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: HDAC4 was changed from to Other",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T16:57:36.489630+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HDAC4 were set to ",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T16:57:07.305359+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HDAC4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T16:56:57.299895+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HDAC4 as Amber List (moderate evidence)",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T16:56:57.289020+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hdac4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HDAC4",
"entity_type": "gene"
},
{
"created": "2020-02-06T16:45:59.611641+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: PRKN: Changed rating: GREEN",
"entity_name": "PRKN",
"entity_type": "gene"
},
{
"created": "2020-02-06T16:45:47.409216+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: PRKN: Rating: ; Mode of pathogenicity: None; Publications: 29644727; Phenotypes: Parkinson disease, juvenile, type 2 MIM#600116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRKN",
"entity_type": "gene"
},
{
"created": "2020-02-06T16:40:50.993985+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: PINK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29644727, 15955953; Phenotypes: Parkinson disease 6, early onset MIM#605909; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PINK1",
"entity_type": "gene"
},
{
"created": "2020-02-06T16:38:03.775003+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.7",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: PARK7: Rating: GREEN; Mode of pathogenicity: None; Publications: 16240358, 27085187, 29644727; Phenotypes: Parkinson disease 7, autosomal recessive early-onset MIM#606324; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PARK7",
"entity_type": "gene"
}
]
}