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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=797",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=795",
"results": [
{
"created": "2022-07-18T19:03:09.272694+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WARS2 were set to PMID: 29120065; 34890876",
"entity_name": "WARS2",
"entity_type": "gene"
},
{
"created": "2022-07-18T19:01:52.681848+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WARS2 as Green List (high evidence)",
"entity_name": "WARS2",
"entity_type": "gene"
},
{
"created": "2022-07-18T19:01:52.669761+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wars2 has been classified as Green List (High Evidence).",
"entity_name": "WARS2",
"entity_type": "gene"
},
{
"created": "2022-07-18T19:01:20.800581+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34890876, 31970218, 29120065; Phenotypes: Parkinsonism-dystonia 3, childhood-onset, MIM# 619738; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WARS2",
"entity_type": "gene"
},
{
"created": "2022-07-18T18:58:47.773205+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZFYVE26 as ready",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2022-07-18T18:58:47.761147+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zfyve26 has been classified as Green List (High Evidence).",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2022-07-18T18:58:42.515002+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZFYVE26 were changed from Spastic paraplegia and retinal degeneration; Kjellin syndrome; Parkinsonism; OMIM 270700 to Spastic paraplegia 15, autosomal recessive, MIM#\t270700; Spastic paraplegia and retinal degeneration; Kjellin syndrome; Parkinsonism",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2022-07-18T18:57:35.659387+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZFYVE26 as Green List (high evidence)",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2022-07-18T18:57:35.647447+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zfyve26 has been classified as Green List (High Evidence).",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2022-07-18T13:42:58.280042+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL11A1 as ready",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2022-07-18T13:42:58.269026+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col11a1 has been classified as Green List (High Evidence).",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2022-07-18T07:44:34.701733+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: ATXN10 was added\ngene: ATXN10 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: ATXN10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ATXN10 were set to PMID: 28890930\nPhenotypes for gene: ATXN10 were set to Spinocerebellar Ataxia 10; Parkinsonism; OMIM 603516\nReview for gene: ATXN10 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "ATXN10",
"entity_type": "gene"
},
{
"created": "2022-07-18T07:42:16.076487+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: ATXN2 was added\ngene: ATXN2 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: ATXN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ATXN2 were set to PMID: 11761482, 17923635\nPhenotypes for gene: ATXN2 were set to Spinocerebellar Ataxia 2; Parkinsonism; Myoclonus; OMIM 183090\nReview for gene: ATXN2 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "ATXN2",
"entity_type": "gene"
},
{
"created": "2022-07-18T07:38:52.485867+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: ATXN3 was added\ngene: ATXN3 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: ATXN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ATXN3 were set to PMID: 11176969; 7574470\nPhenotypes for gene: ATXN3 were set to Spinocerebellar 3; Machado Joseph disease; Ataxia; Parkinsonism; OMIM 109150\nReview for gene: ATXN3 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "ATXN3",
"entity_type": "gene"
},
{
"created": "2022-07-18T07:35:41.534030+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: ATXN8 was added\ngene: ATXN8 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: ATXN8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ATXN8 were set to PMID: 24285970\nPhenotypes for gene: ATXN8 were set to Spinocerebellar 8; Parkinsonism; OMIM 608768\nReview for gene: ATXN8 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "ATXN8",
"entity_type": "gene"
},
{
"created": "2022-07-18T07:33:04.875719+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: TPP1 was added\ngene: TPP1 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TPP1 were set to PMID: 21940688\nPhenotypes for gene: TPP1 were set to Late Infantile NCL; Parkinsonism; OMIM 204500\nReview for gene: TPP1 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2022-07-18T07:30:19.081788+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: CYP27A1 was added\ngene: CYP27A1 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP27A1 were set to PMID: 30054180\nPhenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis, infantile-onset diarrhoea, juvenile-onset cataract, young adult-onset tendon xanthomas; Epilepsy; Parkinsonism; Ataxia; Peripheral neuropathy; OMIM 213700\nReview for gene: CYP27A1 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2022-07-18T07:27:07.507431+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: DDC was added\ngene: DDC was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DDC were set to PMID: 33983693\nPhenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency (DYT-DDC); Infantile-onset parkinsonism & dystonia; Bulbar dysfunction; Oculogyric crisis; Autonomic dysfunction; Intellectual disability; OMIM 608603\nReview for gene: DDC was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2022-07-18T07:10:49.814402+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: DHDDS was added\ngene: DHDDS was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: DHDDS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: DHDDS were set to PMID: 34837344, 29100083\nPhenotypes for gene: DHDDS were set to Myoclonic Epilepsy; Parkinsonism; Ataxia; Intellectual disability; OMIM 617836\nReview for gene: DHDDS was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2022-07-18T01:45:30.740657+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: EIF2AK2 was added\ngene: EIF2AK2 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: EIF2AK2 were set to PMID: 32197074\nPhenotypes for gene: EIF2AK2 were set to Neurodevelopmental Syndrome; Developmental delays; Ataxia; Parkinsonism; White matter alterations; OMIM 618877\nReview for gene: EIF2AK2 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2022-07-18T01:40:03.639414+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: EPM2A was added\ngene: EPM2A was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EPM2A were set to PMID: 27574708\nPhenotypes for gene: EPM2A were set to Lafora disease; Progressive Myoclonic Epilepsy; Parkinsonism; OMIM 254780\nReview for gene: EPM2A was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "EPM2A",
"entity_type": "gene"
},
{
"created": "2022-07-18T01:37:48.956606+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: FOXG1 was added\ngene: FOXG1 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: FOXG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FOXG1 were set to PMID: 21953941\nPhenotypes for gene: FOXG1 were set to Developmental and Epileptic Encephalopathy; Dystonia,; Athetosis; Parkinsonism; Stereotypies; OMIM 613454\nReview for gene: FOXG1 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2022-07-18T01:28:53.292684+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: GLB1 was added\ngene: GLB1 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GLB1 were set to PMID: 34514040\nPhenotypes for gene: GLB1 were set to GM1 Gangliosidosis; Parkinsonism; OMIM 230650\nReview for gene: GLB1 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2022-07-18T01:24:52.498241+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: HEXA was added\ngene: HEXA was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HEXA were set to PMID: 33069254\nPhenotypes for gene: HEXA were set to GM2 Gangliosidosis; Tay-Sachs disease; Parkinsonism; OMIM 272800\nReview for gene: HEXA was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2022-07-18T01:19:57.485451+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: JPH3 was added\ngene: JPH3 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: JPH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: JPH3 were set to PMID: 28131164\nPhenotypes for gene: JPH3 were set to Huntington Disease Like 2 (HDL2); Parkinsonism; Severe Dementia; OMIM 606438\nReview for gene: JPH3 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "JPH3",
"entity_type": "gene"
},
{
"created": "2022-07-18T01:13:08.220893+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: NPC2 was added\ngene: NPC2 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NPC2 were set to PMID: 35695805\nPhenotypes for gene: NPC2 were set to Niemann Pick C2; Parkinsonism; OMIM 607625\nReview for gene: NPC2 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2022-07-18T01:09:17.222145+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "edited their review of gene: NPC1: Changed publications: PMID: 24035292, 30369906",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2022-07-18T01:00:27.678539+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: NPC1 was added\ngene: NPC1 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NPC1 were set to PMID: 24035292\nPhenotypes for gene: NPC1 were set to Niemann Pick C1; Parkinsonism; OMIM 257220\nReview for gene: NPC1 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2022-07-18T00:54:35.297823+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: NUS1 was added\ngene: NUS1 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: NUS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NUS1 were set to PMID: 32485575; 30348779\nPhenotypes for gene: NUS1 were set to Mental retardation 55 with seizures (MRD55); Parkinsonism; Developmental delay; Intellectual disability; Ataxia; Myoclonus; OMIM 617831\nReview for gene: NUS1 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2022-07-18T00:47:46.996316+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: PGK1 was added\ngene: PGK1 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PGK1 were set to PMID: 30975619\nPhenotypes for gene: PGK1 were set to Haemolytic anaemia; Rhabdomyolysis; Myopathy; Juvenile Parkinsonism; OMIM 300653\nReview for gene: PGK1 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "PGK1",
"entity_type": "gene"
},
{
"created": "2022-07-18T00:44:35.036826+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: POLR3A was added\ngene: POLR3A was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLR3A were set to PMID: 33652360\nPhenotypes for gene: POLR3A were set to POLR3A Leukoencephalopathy; Parkinsonism; Ocular and dental abnormality; Hypogonadism, OMIM 607694\nReview for gene: POLR3A was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2022-07-18T00:39:34.161145+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: PPP2R2B was added\ngene: PPP2R2B was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: PPP2R2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PPP2R2B were set to PMID: 31286011\nPhenotypes for gene: PPP2R2B were set to Spinocerebellar ataxia 12; Parkinsonism; OMIM 604326\nReview for gene: PPP2R2B was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "PPP2R2B",
"entity_type": "gene"
},
{
"created": "2022-07-18T00:35:32.348204+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: PRKCG was added\ngene: PRKCG was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: PRKCG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PRKCG were set to PMID: 29603387\nPhenotypes for gene: PRKCG were set to Spinocerebellar ataxia 14; Myoclonus; Parkinsonism; OMIM 605361\nReview for gene: PRKCG was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "PRKCG",
"entity_type": "gene"
},
{
"created": "2022-07-18T00:30:09.191372+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: QDPR was added\ngene: QDPR was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: QDPR were set to PMID: 28413401\nPhenotypes for gene: QDPR were set to Dehydropteridin reductase deficiency, Infantile-onset dystonia; Parkinsonism; Epilepsy; Autonomic dysfunction; Hyperphenylalaninemia; OMIM 261360\nReview for gene: QDPR was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2022-07-18T00:25:50.133909+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: SCN1A was added\ngene: SCN1A was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SCN1A were set to PMID: 28186331; 24850485\nPhenotypes for gene: SCN1A were set to Dravet syndrome; Epilepsy, Paekinsonism; OMIM 607208\nReview for gene: SCN1A was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2022-07-18T00:22:58.927536+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: SERAC1 was added\ngene: SERAC1 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SERAC1 were set to PMID: 29332177; 16527507\nPhenotypes for gene: SERAC1 were set to MEGDEL Syndrome; Parkinsonism\nReview for gene: SERAC1 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2022-07-18T00:16:23.768599+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: SLC19A3 was added\ngene: SLC19A3 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC19A3 were set to PMID: 24260777\nPhenotypes for gene: SLC19A3 were set to Biotin-Thiamine Responsive Basal Ganglia disease; Childhood onset Dystonia and Parkinsonism; OMIM 607483\nReview for gene: SLC19A3 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2022-07-18T00:12:24.398762+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: SLC18A2 was added\ngene: SLC18A2 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC18A2 were set to PMID: 23363473, 33983693\nPhenotypes for gene: SLC18A2 were set to Brain dopamine-serotonin transport disease, Childhood-onset parkinsonism, OMIM 618049\nReview for gene: SLC18A2 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "SLC18A2",
"entity_type": "gene"
},
{
"created": "2022-07-17T23:53:15.884797+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: SOX6 was added\ngene: SOX6 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: SOX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SOX6 were set to PMID: 24453155, 25127144\nPhenotypes for gene: SOX6 were set to Tolchin-Le Caignec syndrome; Developmental delay; ID; ASD; ADHD; Parkinsonism; Syringomyelia, OMIM 618971\nReview for gene: SOX6 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "SOX6",
"entity_type": "gene"
},
{
"created": "2022-07-17T23:35:55.385844+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: SPG7 was added\ngene: SPG7 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPG7 were set to PMID: 31433872\nPhenotypes for gene: SPG7 were set to Hereditary Spastic Paraplegia 7; Ataxia; Progressive external opthalmoplegia; Parkinsonism; OMIM 607259\nReview for gene: SPG7 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2022-07-17T23:27:28.108382+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: STUB1 was added\ngene: STUB1 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: STUB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: STUB1 were set to PubMed: 30381368; 32285148, 32337344\nPhenotypes for gene: STUB1 were set to Spinocerebellar Ataxia 48; Parkinsonism, OMIM 618093\nReview for gene: STUB1 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "STUB1",
"entity_type": "gene"
},
{
"created": "2022-07-17T23:15:14.305327+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: STXBP1 was added\ngene: STXBP1 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: STXBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: STXBP1 were set to PMID: 25418441, 32643187, 29929108\nPhenotypes for gene: STXBP1 were set to Developmental and epileptic encephalopathy 4; Juvenile onset Parkinsonism; OMIM 612164\nReview for gene: STXBP1 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2022-07-17T23:06:40.222700+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: TBC1D24 was added\ngene: TBC1D24 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBC1D24 were set to PMID: 28663785; 21087195\nPhenotypes for gene: TBC1D24 were set to Developmental and epileptic encephalopathy 16; Intellectual disability; Parkinsonism; Seizures; Psychosis; OMIM 615338\nReview for gene: TBC1D24 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2022-07-17T22:42:16.201614+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: TBP was added\ngene: TBP was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: TBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TBP were set to PMID: 27172828; 14638975; 11313753; 11914409\nPhenotypes for gene: TBP were set to Spinocerebellar Ataxia 17; Parkinsonism; Chorea; Seizures; Psychosis; Dementia; OMIM 607136\nReview for gene: TBP was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "TBP",
"entity_type": "gene"
},
{
"created": "2022-07-17T22:31:59.925560+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: UBTF was added\ngene: UBTF was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: UBTF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: UBTF were set to PubMed: 28777933; 29300972\nPhenotypes for gene: UBTF were set to Neurodegeneration, childhood-onset; Parkinsonism; Dystonia; Chorea; Brain atrophy\nReview for gene: UBTF was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "UBTF",
"entity_type": "gene"
},
{
"created": "2022-07-17T22:19:11.928792+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: VAC14 was added\ngene: VAC14 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: VAC14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VAC14 were set to PMID: 31392254; 28502045\nPhenotypes for gene: VAC14 were set to Childhood onset Striatonigral degeneration; Dystonia; Parkinsonism; OMIM 617054\nReview for gene: VAC14 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "VAC14",
"entity_type": "gene"
},
{
"created": "2022-07-17T22:11:59.812459+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "reviewed gene: WARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "WARS2",
"entity_type": "gene"
},
{
"created": "2022-07-17T22:08:15.744174+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: WARS2 was added\ngene: WARS2 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: WARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WARS2 were set to PMID: 29120065; 34890876\nPhenotypes for gene: WARS2 were set to Childhood onset parkinsonism dystonia-3; Myoclonus ataxia; OMIM 619738",
"entity_name": "WARS2",
"entity_type": "gene"
},
{
"created": "2022-07-17T21:42:20.121198+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "SHEKEEB MOHAMMAD",
"item_type": "entity",
"text": "gene: ZFYVE26 was added\ngene: ZFYVE26 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZFYVE26 were set to PMID: 33033739; 21462267\nPhenotypes for gene: ZFYVE26 were set to Spastic paraplegia and retinal degeneration; Kjellin syndrome; Parkinsonism; OMIM 270700\nReview for gene: ZFYVE26 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2022-07-17T18:43:18.919453+10:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBA2 as ready",
"entity_name": "UBA2",
"entity_type": "gene"
},
{
"created": "2022-07-17T18:43:18.910645+10:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uba2 has been classified as Green List (High Evidence).",
"entity_name": "UBA2",
"entity_type": "gene"
},
{
"created": "2022-07-17T18:43:05.676531+10:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UBA2 as Green List (high evidence)",
"entity_name": "UBA2",
"entity_type": "gene"
},
{
"created": "2022-07-17T18:43:05.664572+10:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uba2 has been classified as Green List (High Evidence).",
"entity_name": "UBA2",
"entity_type": "gene"
},
{
"created": "2022-07-17T18:42:57.461126+10:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UBA2 was added\ngene: UBA2 was added to Hand and foot malformations. Sources: Expert Review\nMode of inheritance for gene: UBA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UBA2 were set to 31332306; 31587267; 34159400\nPhenotypes for gene: UBA2 were set to ACCES syndrome, MIM# 619959; Split-Hand/Foot Malformation; Aplasia Cutis Congenita; Ectrodactyly\nReview for gene: UBA2 was set to GREEN\nAdded comment: 2x unrelated probands with isolated split hand malformation. fs variants - 1x de novo and 1x inherited from apparent unaffected mother (no radiographs of her hand available)\r\n\r\n1x proband with unilateral split-hand malformation (missense). Her daughter and grandson reported to have ectrofactyly but were unavailable for testing \nSources: Expert Review",
"entity_name": "UBA2",
"entity_type": "gene"
},
{
"created": "2022-07-17T18:40:54.401317+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBA2 were set to 31332306; 31587267",
"entity_name": "UBA2",
"entity_type": "gene"
},
{
"created": "2022-07-17T18:40:36.287834+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBA2 were changed from Split-Hand/Foot Malformation; Aplasia Cutis Congenita; Ectrodactyly to ACCES syndrome, MIM# 619959; Split-Hand/Foot Malformation; Aplasia Cutis Congenita; Ectrodactyly",
"entity_name": "UBA2",
"entity_type": "gene"
},
{
"created": "2022-07-17T18:40:25.168365+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBA2 were set to PMID: 31332306; 31587267",
"entity_name": "UBA2",
"entity_type": "gene"
},
{
"created": "2022-07-17T18:39:59.942197+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBA2 were changed from Split-Hand/Foot Malformation; Aplasia Cutis Congenita; Ectrodactyly to ACCES syndrome, MIM# 619959; Split-Hand/Foot Malformation; Aplasia Cutis Congenita; Ectrodactyly",
"entity_name": "UBA2",
"entity_type": "gene"
},
{
"created": "2022-07-17T18:39:17.096410+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBA2 were changed from Split-Hand/Foot Malformation; Aplasia Cutis Congenita; Ectrodactyly to ACCES syndrome, MIM# 619959; Split-Hand/Foot Malformation; Aplasia Cutis Congenita; Ectrodactyly",
"entity_name": "UBA2",
"entity_type": "gene"
},
{
"created": "2022-07-17T18:38:51.271255+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ACCES syndrome, MIM# 619959; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UBA2",
"entity_type": "gene"
},
{
"created": "2022-07-16T19:02:11.392780+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANKRD11 as ready",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2022-07-16T19:02:11.371229+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ankrd11 has been classified as Green List (High Evidence).",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2022-07-16T19:01:55.168003+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANKRD11 were changed from to KBG syndrome, MIM# 148050",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2022-07-16T19:01:22.137389+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANKRD11 were set to ",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2022-07-16T19:00:58.501441+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANKRD11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2022-07-16T19:00:32.050358+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANKRD11: Rating: GREEN; Mode of pathogenicity: None; Publications: 27605097; Phenotypes: KBG syndrome 148050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ANKRD11",
"entity_type": "gene"
},
{
"created": "2022-07-16T18:56:35.621327+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAMTS10 as ready",
"entity_name": "ADAMTS10",
"entity_type": "gene"
},
{
"created": "2022-07-16T18:56:35.608833+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamts10 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS10",
"entity_type": "gene"
},
{
"created": "2022-07-16T18:56:31.580956+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADAMTS10 were changed from to Weill-Marchesani syndrome 1, recessive, MIM# 277600",
"entity_name": "ADAMTS10",
"entity_type": "gene"
},
{
"created": "2022-07-16T18:56:07.143092+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADAMTS10 were set to ",
"entity_name": "ADAMTS10",
"entity_type": "gene"
},
{
"created": "2022-07-16T18:55:43.238813+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADAMTS10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAMTS10",
"entity_type": "gene"
},
{
"created": "2022-07-16T18:54:30.134861+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADAMTS10: Rating: GREEN; Mode of pathogenicity: None; Publications: 15368195, 18567016, 19836009; Phenotypes: Weill-Marchesani syndrome 1, recessive, MIM# 277600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAMTS10",
"entity_type": "gene"
},
{
"created": "2022-07-16T18:49:52.319652+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACVR1 as ready",
"entity_name": "ACVR1",
"entity_type": "gene"
},
{
"created": "2022-07-16T18:49:52.308534+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acvr1 has been classified as Green List (High Evidence).",
"entity_name": "ACVR1",
"entity_type": "gene"
},
{
"created": "2022-07-16T18:49:49.961245+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACVR1 were changed from to Congenital heart disease, MONDO:0005453",
"entity_name": "ACVR1",
"entity_type": "gene"
},
{
"created": "2022-07-16T18:49:21.499684+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACVR1 were set to ",
"entity_name": "ACVR1",
"entity_type": "gene"
},
{
"created": "2022-07-16T18:48:58.076318+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACVR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACVR1",
"entity_type": "gene"
},
{
"created": "2022-07-16T18:48:25.354921+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACVR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29089047, 19506109, 21248739; Phenotypes: Congenital heart disease, MONDO:0005453; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACVR1",
"entity_type": "gene"
},
{
"created": "2022-07-16T12:17:27.825699+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASXL1 as ready",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2022-07-16T12:17:27.814156+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asxl1 has been classified as Green List (High Evidence).",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2022-07-16T12:17:23.205406+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ASXL1 as Green List (high evidence)",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2022-07-16T12:17:23.196313+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asxl1 has been classified as Green List (High Evidence).",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2022-07-15T22:10:27.060961+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.32",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: ASXL1 was added\ngene: ASXL1 was added to Cerebral Palsy. Sources: Literature,Expert Review\nMode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ASXL1 were set to 33528536; 30542205\nPhenotypes for gene: ASXL1 were set to Bohring-Opitz syndrome (MIM 605039)\nReview for gene: ASXL1 was set to GREEN\nAdded comment: 3 individuals with de novo loss of function variants identified in a retrospective CP cohort analysis (PMID 33528536) . One additional individual reported in PMID 30542205 with \"atypical cerebral palsy\". \r\n\r\nTruncal hypotonia with spasticity of the extremities are sometimes reported in BOS (but are not characteristic of the disorder), along with multiple developmental abnormalities of varying severity. \nSources: Literature, Expert Review",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2022-07-15T20:13:33.401825+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP1A3 as Green List (high evidence)",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2022-07-15T20:13:33.389994+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp1a3 has been classified as Green List (High Evidence).",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2022-07-15T20:12:39.243720+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ESCO2 as ready",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2022-07-15T20:12:39.230802+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: esco2 has been classified as Green List (High Evidence).",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2022-07-15T20:12:36.548168+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ESCO2 were changed from Atrial septal defect; Ventricular septal defect; Pulmonic stenosis; tricuspid regurgitation to Roberts-SC phocomelia syndrome, MIM#\t268300; Atrial septal defect; Ventricular septal defect; Pulmonic stenosis; tricuspid regurgitation",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2022-07-15T20:11:50.656088+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ESCO2 as Green List (high evidence)",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2022-07-15T20:11:50.643289+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: esco2 has been classified as Green List (High Evidence).",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2022-07-15T20:11:11.227887+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: RYR1.",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2022-07-15T20:10:30.863728+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EP300 as ready",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2022-07-15T20:10:30.853360+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ep300 has been classified as Green List (High Evidence).",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2022-07-15T20:10:30.385918+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EP300 as ready",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2022-07-15T20:10:30.376853+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ep300 has been classified as Green List (High Evidence).",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2022-07-15T20:10:26.557231+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EP300 were changed from Ventricular septal defect; Patent foramen ovale; Patent ductus arteriosus; mild valve dysplasia to Rubinstein-Taybi syndrome 2, MIM# 613684",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2022-07-15T20:09:53.530018+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EP300 as Green List (high evidence)",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2022-07-15T20:09:53.515847+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ep300 has been classified as Green List (High Evidence).",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2022-07-15T20:09:28.190936+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EP300: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Rubinstein-Taybi syndrome 2, MIM# 613684; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2022-07-15T20:08:17.761660+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAH5 as ready",
"entity_name": "DNAH5",
"entity_type": "gene"
}
]
}