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{
"count": 220817,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1605",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1603",
"results": [
{
"created": "2020-09-06T18:31:22.109873+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif1c has been classified as Green List (High Evidence).",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2020-09-06T18:31:16.193313+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF1C were changed from to Spastic ataxia 2, autosomal recessive, MIM# 611302",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2020-09-06T18:30:55.924990+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIF1C were set to ",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2020-09-06T18:30:36.538530+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIF1C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2020-09-06T18:30:18.757516+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIF1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 24319291, 31413903, 29544888; Phenotypes: Spastic ataxia 2, autosomal recessive, MIM# 611302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2020-09-06T18:25:57.789118+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF1C as ready",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2020-09-06T18:25:57.778614+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif1c has been classified as Amber List (Moderate Evidence).",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2020-09-06T18:25:45.163734+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIF1C as Amber List (moderate evidence)",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2020-09-06T18:25:45.149198+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif1c has been classified as Amber List (Moderate Evidence).",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2020-09-06T18:25:35.505642+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF1C was added\ngene: KIF1C was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: KIF1C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF1C were set to 31413903\nPhenotypes for gene: KIF1C were set to Spastic ataxia 2, autosomal recessive, MIM#\t611302\nReview for gene: KIF1C was set to AMBER\nAdded comment: Neurologic disorder characterized by onset in the first 2 decades of cerebellar ataxia, dysarthria, and variable spasticity of the lower limbs. At least one report of a more complex movement disorder including dystonia. \nSources: Expert list",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2020-09-06T16:47:20.487754+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNA2 as ready",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2020-09-06T16:47:20.478068+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcna2 has been classified as Green List (High Evidence).",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2020-09-06T16:47:17.589404+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNA2 were changed from to Episodic ataxia; Epileptic encephalopathy, early infantile, 32, MIM# 616366",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2020-09-06T16:46:50.981989+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNA2 were set to ",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2020-09-06T16:46:24.458244+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2020-09-06T16:46:01.591486+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KCNA2: Changed rating: GREEN",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2020-09-06T16:45:52.784769+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNA2: Rating: ; Mode of pathogenicity: None; Publications: 27733563, 27543892, 25477152; Phenotypes: Episodic ataxia, Epileptic encephalopathy, early infantile, 32 616366; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2020-09-06T16:08:36.878028+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IRF2BPL as ready",
"entity_name": "IRF2BPL",
"entity_type": "gene"
},
{
"created": "2020-09-06T16:08:36.867618+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf2bpl has been classified as Green List (High Evidence).",
"entity_name": "IRF2BPL",
"entity_type": "gene"
},
{
"created": "2020-09-06T16:08:34.126778+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IRF2BPL were changed from to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM# 618088",
"entity_name": "IRF2BPL",
"entity_type": "gene"
},
{
"created": "2020-09-06T16:08:07.717193+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IRF2BPL were set to ",
"entity_name": "IRF2BPL",
"entity_type": "gene"
},
{
"created": "2020-09-06T16:07:39.586771+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IRF2BPL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IRF2BPL",
"entity_type": "gene"
},
{
"created": "2020-09-06T16:07:08.500947+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IRF2BPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 30057031, 30166628; Phenotypes: Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM# 618088; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IRF2BPL",
"entity_type": "gene"
},
{
"created": "2020-09-06T16:03:05.112017+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTB as ready",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2020-09-06T16:03:05.101316+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actb has been classified as Green List (High Evidence).",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2020-09-06T16:02:58.581867+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: ACTB was changed from to Other",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2020-09-06T16:02:04.591357+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAJC12 as ready",
"entity_name": "DNAJC12",
"entity_type": "gene"
},
{
"created": "2020-09-06T16:02:04.578996+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnajc12 has been classified as Green List (High Evidence).",
"entity_name": "DNAJC12",
"entity_type": "gene"
},
{
"created": "2020-09-06T16:00:33.710138+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAO1 as ready",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2020-09-06T16:00:33.700381+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnao1 has been classified as Green List (High Evidence).",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2020-09-06T16:00:30.354994+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNAO1 were set to ",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:59:58.639362+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: GNAO1 was changed from to Other",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:59:08.332328+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA1A as ready",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:59:08.321716+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1a has been classified as Green List (High Evidence).",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:58:30.931383+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDHX as ready",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:58:30.914122+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdhx has been classified as Green List (High Evidence).",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:58:05.002697+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNASEH2B as ready",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:58:04.992689+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnaseh2b has been classified as Green List (High Evidence).",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:57:38.330936+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNASEH2C as ready",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:57:38.313582+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnaseh2c has been classified as Green List (High Evidence).",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:57:16.684731+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNORD118 as ready",
"entity_name": "SNORD118",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:57:16.677121+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snord118 has been classified as Green List (High Evidence).",
"entity_name": "SNORD118",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:56:53.353222+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUOX as ready",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:56:53.342017+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: suox has been classified as Green List (High Evidence).",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:56:29.799811+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SYT1 as ready",
"entity_name": "SYT1",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:56:29.790260+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syt1 has been classified as Green List (High Evidence).",
"entity_name": "SYT1",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:56:04.924096+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SAMHD1 as ready",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:56:04.914541+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: samhd1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:55:44.430075+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AFG3L2 as ready",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:55:44.416557+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: afg3l2 has been classified as Red List (Low Evidence).",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:55:22.717395+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHMP2B as ready",
"entity_name": "CHMP2B",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:55:22.709823+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chmp2b has been classified as Red List (Low Evidence).",
"entity_name": "CHMP2B",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:55:02.520402+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EARS2 as ready",
"entity_name": "EARS2",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:55:02.506895+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ears2 has been classified as Red List (Low Evidence).",
"entity_name": "EARS2",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:54:44.632768+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GAMT as ready",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:54:44.621489+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gamt has been classified as Red List (Low Evidence).",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:54:28.160047+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNQ2 as ready",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:54:28.152305+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnq2 has been classified as Red List (Low Evidence).",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:54:09.514710+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAPT as ready",
"entity_name": "MAPT",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:54:09.502126+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mapt has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAPT",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:54:05.391825+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAPT as Amber List (moderate evidence)",
"entity_name": "MAPT",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:54:05.381210+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mapt has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAPT",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:53:38.841690+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAT1A as ready",
"entity_name": "MAT1A",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:53:38.831250+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mat1a has been classified as Red List (Low Evidence).",
"entity_name": "MAT1A",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:53:24.563212+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MMADHC as ready",
"entity_name": "MMADHC",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:53:24.540788+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmadhc has been classified as Red List (Low Evidence).",
"entity_name": "MMADHC",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:52:55.128329+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPV17 as ready",
"entity_name": "MPV17",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:52:55.094687+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpv17 has been classified as Red List (Low Evidence).",
"entity_name": "MPV17",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:52:38.541707+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLP1 as ready",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:52:38.531641+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plp1 has been classified as Red List (Low Evidence).",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:52:22.130578+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNASEH2A as ready",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:52:22.122056+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnaseh2a has been classified as Red List (Low Evidence).",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:52:06.537570+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS37A as ready",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:52:06.529511+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps37a has been classified as Red List (Low Evidence).",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:51:33.698418+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TOR1AIP1 as ready",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:51:33.690329+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tor1aip1 has been classified as Red List (Low Evidence).",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:51:13.417309+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UNC80 as ready",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:51:13.408628+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc80 has been classified as Red List (Low Evidence).",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:48:56.713986+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HPRT1 as ready",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:48:56.701851+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hprt1 has been classified as Green List (High Evidence).",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:48:48.415618+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HPRT1 were set to ",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:48:33.278216+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HPRT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301328; Phenotypes: Lesch-Nyhan syndrome, MIM# 300322; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:43:15.522536+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HIBCH as ready",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:43:15.514963+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hibch has been classified as Green List (High Evidence).",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:42:55.283441+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HIBCH as Green List (high evidence)",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:42:55.274199+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hibch has been classified as Green List (High Evidence).",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:42:45.662316+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HIBCH was added\ngene: HIBCH was added to Dystonia - complex. Sources: Expert Review\nMode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HIBCH were set to 26026795; 25251209; 24299452; 32677093\nPhenotypes for gene: HIBCH were set to 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM#\t250620\nReview for gene: HIBCH was set to GREEN\nAdded comment: Autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia. Dystonia is a feature. \nSources: Expert Review",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:40:43.659175+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HIBCH as ready",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:40:43.650105+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hibch has been classified as Green List (High Evidence).",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:40:39.880710+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HIBCH as Green List (high evidence)",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:40:39.870629+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hibch has been classified as Green List (High Evidence).",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:40:13.598682+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HIBCH was added\ngene: HIBCH was added to Regression. Sources: Expert list\nMode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HIBCH were set to 26026795; 25251209; 24299452; 32677093\nPhenotypes for gene: HIBCH were set to 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM#\t250620\nReview for gene: HIBCH was set to GREEN\nAdded comment: Autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia. Multiple unrelated families reported. \nSources: Expert list",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:39:51.243508+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ECHS1 as ready",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:39:51.235000+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: echs1 has been classified as Green List (High Evidence).",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:39:47.091227+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ECHS1 as Green List (high evidence)",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:39:47.081263+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: echs1 has been classified as Green List (High Evidence).",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:39:37.860579+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ECHS1 was added\ngene: ECHS1 was added to Dystonia - complex. Sources: Expert Review\nMode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ECHS1 were set to 32677093; 32858208\nPhenotypes for gene: ECHS1 were set to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM#\t616277\nReview for gene: ECHS1 was set to GREEN\nAdded comment: Paroxysmal and non-paroxysmal dystonia described as a manifestation of this metabolic disorder. \nSources: Expert Review",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:26:10.987574+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GTPBP2 was added\ngene: GTPBP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review\nMode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GTPBP2 were set to 26675814; 29449720; 30790272\nPhenotypes for gene: GTPBP2 were set to Jaberi-Elahi syndrome, MIM#617988\nReview for gene: GTPBP2 was set to GREEN\nAdded comment: Nine individuals from six unrelated families with bi-allelic variants in this gene causing a neuro-ectodermal syndrome. Key features include prenatal onset microcephaly, tone abnormalities, and movement disorders, epilepsy, dysmorphic features, retinal dysfunction, ectodermal dysplasia, and brain iron accumulation. \nSources: Expert Review",
"entity_name": "GTPBP2",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:25:07.151653+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GTPBP2 as ready",
"entity_name": "GTPBP2",
"entity_type": "gene"
},
{
"created": "2020-09-06T15:25:07.141512+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtpbp2 has been classified as Green List (High Evidence).",
"entity_name": "GTPBP2",
"entity_type": "gene"
}
]
}