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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=565",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=563",
"results": [
{
"created": "2023-08-08T15:33:27.185884+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TET2 as ready",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2023-08-08T15:33:27.173235+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tet2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2023-08-08T15:33:22.393761+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TET2 as Amber List (moderate evidence)",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2023-08-08T15:33:22.381021+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tet2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2023-08-08T15:33:14.140889+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TET2: Changed rating: AMBER",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2023-08-08T15:31:19.833853+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TET2 was added\ngene: TET2 was added to Pulmonary Arterial Hypertension. Sources: Expert list\nMode of inheritance for gene: TET2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TET2 were set to 32192357\nPhenotypes for gene: TET2 were set to Pulmonary arterial hypertension MONDO:0015924, TET2-related\nAdded comment: MODERATE by ClinGen.\r\n\r\nTET2 was first reported in relation to autosomal dominant pulmonary arterial hypertension (PAH) in 2020 (Potus et al., PMID: 32192357). Out of a cohort of 2572 cases from the PAH biobank, 6 rare predicted deleterious likely germline variants including missense, nonsense, and frameshift variants were identified in 6 unrelated individuals. The relationship between TET2 and PAH is also supported by experimental evidence including tissue expression in controls and patients, biochemical function as a negative regulator of a proinflammatory response, and knock out TET2 mice exhibiting a PH phenotype. \nSources: Expert list",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2023-08-08T15:28:34.919302+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GGCX: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: pulmonary arterial hypertension MONDO:0015924; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2023-08-08T15:26:44.267183+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: pulmonary arterial hypertension MONDO:0015924, ABCC8-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2023-08-08T15:23:19.357715+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SOX17: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Heritable pulmonary arterial hypertension, MONDO:0017148, SOX17-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOX17",
"entity_type": "gene"
},
{
"created": "2023-08-08T15:21:46.929284+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary hypertension, primary, 2 MIM#615342; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD9",
"entity_type": "gene"
},
{
"created": "2023-08-08T15:21:09.437891+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: KDR: DEFINITIVE by ClinGen.",
"entity_name": "KDR",
"entity_type": "gene"
},
{
"created": "2023-08-08T15:20:44.373143+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNK3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary hypertension, primary, 4 MIM#615344; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNK3",
"entity_type": "gene"
},
{
"created": "2023-08-08T15:20:06.303954+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GDF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 5 MIM#615506, Pulmonary arterial hypertension; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2023-08-08T15:10:24.584887+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.215",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301791; Phenotypes: Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2023-08-08T15:03:35.040958+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.185",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "edited their review of gene: ADNP: Added comment: In addition to the previous cases, there is one case report of a boy with the full phenotypic picture of Helsmoortel-van der Aa syndrome and hypotonic cerebral palsy. Note that hypotonia is one feature of Helsmoortel-van der Aa syndrome, but hypotonic cerebral palsy seems to be rare.; Changed rating: GREEN; Changed publications: 29780943; Changed phenotypes: Helsmoortel-van der Aa syndrome MIM#615873",
"entity_name": "ADNP",
"entity_type": "gene"
},
{
"created": "2023-08-08T14:54:11.185919+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CAV1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary hypertension, primary, 3 MIM#615343; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CAV1",
"entity_type": "gene"
},
{
"created": "2023-08-08T14:53:34.582411+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BMPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600, Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2023-08-08T14:52:58.312587+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: ATP13A3: DEFINITIVE by ClinGen.",
"entity_name": "ATP13A3",
"entity_type": "gene"
},
{
"created": "2023-08-08T14:17:46.494136+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.215",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25299038, 18313024; Phenotypes: Laurence-Moon Syndrome (LMS) MIM#245800, Spastic Paraplegia Type 39 MIM#612020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2023-08-08T13:04:32.541451+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.215",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: None; Publications: 30039206, 27066567, 25728773; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2B2 (MIM#605589), Ataxia-oculomotor apraxia 4 (MIM#616267); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2023-08-08T09:53:04.399550+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.215",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PLP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301361, 11872612; Phenotypes: Pelizaeus-Merzbacher disease (MIM#312080); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2023-08-08T09:39:57.562477+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.9",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "edited their review of gene: DPP9: Added comment: de novo monoallelic dominant-negative mutation in DPP9 (c.755G>C, R252P) presenting with HLH at ~2m. Functional data supporting dominant negative mechanism.; Changed publications: PMID: 37544411; Changed phenotypes: HLH; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DPP9",
"entity_type": "gene"
},
{
"created": "2023-08-08T09:14:50.246636+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.215",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PLA2G6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Infantile neuroaxonal dystrophy 1 (MIM#256600), Neurodegeneration with brain iron accumulation 2B (MIM#610217), Parkinson disease 14, autosomal recessive (MIM#612953); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2023-08-07T16:50:04.468641+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.215",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PHYH: Rating: AMBER; Mode of pathogenicity: None; Publications: 2433405, 20301527; Phenotypes: Adult Refsum Disease MIM#266500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PHYH",
"entity_type": "gene"
},
{
"created": "2023-08-07T16:16:05.221843+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.215",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PEX7: Rating: RED; Mode of pathogenicity: None; Publications: 20301447, 12325024; Phenotypes: Peroxisome biogenesis disorder 9B (MIM#614879); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2023-08-07T15:58:11.611353+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.215",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PDYN: Rating: AMBER; Mode of pathogenicity: None; Publications: 21035104; Phenotypes: Spinocerebellar ataxia 23 (MIM#610245); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "PDYN",
"entity_type": "gene"
},
{
"created": "2023-08-07T14:41:24.828681+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.215",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16240368, 18065439, 20157015, 21112924; Phenotypes: Optic atrophy plus syndrome (MIM#125250); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2023-08-07T14:07:30.200606+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.215",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: NGLY1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22581936, 27388694, 29419975; Phenotypes: Congenital disorder of deglycosylation 1 (CDDG1) (MIM#615273); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2023-08-07T11:19:44.173848+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.103",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: RELA was added\ngene: RELA was added to Inflammatory bowel disease. Sources: Literature\nMode of inheritance for gene: RELA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RELA were set to PMID: 37273177\nPhenotypes for gene: RELA were set to Inflammatory bowel disease\nReview for gene: RELA was set to GREEN\nAdded comment: Patients with RELA DN mutations additionally presented periodic fever, inflammatory bowel diseases (IBDs), juvenile idiopathic arthritis (JIA), and skin involvement. Complete penetrance was observed for IBD \nSources: Literature",
"entity_name": "RELA",
"entity_type": "gene"
},
{
"created": "2023-08-07T11:11:13.237491+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.9",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: RELA was added\ngene: RELA was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature\nMode of inheritance for gene: RELA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RELA were set to PMID: 37273177\nPhenotypes for gene: RELA were set to periodic fever, inflammatory bowel disease, JIA\nReview for gene: RELA was set to GREEN\nAdded comment: Dominant negative RELA mutations in six patients from five unrelated families. Phenotypic overlap with RELA haploinsufficiency - chronic mucocutaneous ulcerations and autoimmune hematological disorders such as immune thrombocytopenia (ITP) and neutropenia. Patients with RELA DN mutations additionally presented periodic fever, inflammatory bowel diseases (IBDs), juvenile idiopathic arthritis (JIA), and skin involvement. \nSources: Literature",
"entity_name": "RELA",
"entity_type": "gene"
},
{
"created": "2023-08-07T09:10:20.841060+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.185",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2023-08-07T09:10:15.157892+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.185",
"user_name": "Luisa Weiss",
"item_type": "entity",
"text": "edited their review of gene: SYNE1: Added comment: Two cases each in two larger CP cohort studies, one with ataxic and one with spastic CP, with biallelic SYNE1 mutations.\r\nIn addition, one case report of an 18-year-old girl with CP and a heterozygous SYNE1-mutation. Not that this patient had a history of perinatal distress and asphyxia. The SYNE1 mutation was discovered at the age of 18 years due to a hypertrophic cardiomyopathy. It is uncertain whether the SYNE1 mutation is the cause for the CP.; Changed rating: GREEN; Changed publications: 34321325, 34816117, 31110749; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2023-08-05T12:52:39.629273+10:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNRNPA2B1 were changed from oculopharyngeal muscular dystrophy, MONDO:0008116 to oculopharyngeal muscular dystrophy, MONDO:0008116, OMIM#620460",
"entity_name": "HNRNPA2B1",
"entity_type": "gene"
},
{
"created": "2023-08-05T12:52:20.452500+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNRNPA2B1 were changed from inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MONDO:0014178; oculopharyngeal muscular dystrophy, MONDO:0008116 to oculopharyngeal muscular dystrophy, MONDO:0008116, OMIM#620460",
"entity_name": "HNRNPA2B1",
"entity_type": "gene"
},
{
"created": "2023-08-05T12:49:53.822772+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1087",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNRNPA2B1 were changed from oculopharyngeal muscular dystrophy, MONDO:0008116; Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MIM#615422 to oculopharyngeal muscular dystrophy, MONDO:0008116, OMIM#620460; Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MIM#615422",
"entity_name": "HNRNPA2B1",
"entity_type": "gene"
},
{
"created": "2023-08-04T16:08:07.466755+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.215",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: SURF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9843204, 9837813; Phenotypes: Charcot-Marie-Tooth disease, type 4K (MIM#616684, MONDO:0014733); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2023-08-04T16:05:31.779455+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.215",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36137062, 26542466, 23176824; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay (HSAN) (MIM#615031); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2023-08-04T15:35:38.034974+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.215",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: TYMP: Rating: AMBER; Mode of pathogenicity: Other; Publications: 20301358, 14757860; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type) MIM#603041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2023-08-04T12:16:44.790408+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGAP1 were changed from Cerebral palsy to Cerebral palsy, MONDO:0006497, AGAP1-related",
"entity_name": "AGAP1",
"entity_type": "gene"
},
{
"created": "2023-08-04T12:16:24.303853+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AGAP1: Changed phenotypes: Cerebral palsy, MONDO:0006497, AGAP1-related",
"entity_name": "AGAP1",
"entity_type": "gene"
},
{
"created": "2023-08-04T12:16:06.980720+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGAP1 were changed from Neurodevelopmental disorder, MONDO:0700092, AGAP1-related to Cerebral palsy, MONDO:0006497, AGAP1-related",
"entity_name": "AGAP1",
"entity_type": "gene"
},
{
"created": "2023-08-04T12:13:52.741656+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGAP1 were changed from Cerebral palsy to Neurodevelopmental disorder, MONDO:0700092, AGAP1-related",
"entity_name": "AGAP1",
"entity_type": "gene"
},
{
"created": "2023-08-04T12:09:39.694223+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AGAP1 were set to 31700678; 25666757; 30472483",
"entity_name": "AGAP1",
"entity_type": "gene"
},
{
"created": "2023-08-04T12:09:07.961781+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: AGAP1.",
"entity_name": "AGAP1",
"entity_type": "gene"
},
{
"created": "2023-08-04T12:08:28.189833+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HPDL were set to 33634263",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2023-08-04T12:07:44.274290+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HPDL as Green List (high evidence)",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2023-08-04T12:07:44.261385+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hpdl has been classified as Green List (High Evidence).",
"entity_name": "HPDL",
"entity_type": "gene"
},
{
"created": "2023-08-04T12:06:42.040120+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAP2K1 as ready",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2023-08-04T12:06:42.026257+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: map2k1 has been classified as Green List (High Evidence).",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2023-08-04T12:06:35.793290+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAP2K1 as Green List (high evidence)",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2023-08-04T12:06:35.779704+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: map2k1 has been classified as Green List (High Evidence).",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2023-08-04T11:53:40.308421+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRDM10 were changed from Fibrofolliculoma, HP:0030436; lipomatosis, MONDO:0006574; renal cell carcinoma, MONDO:0005086 to Birt-Hogg-Dube syndrome 2, MIM# 620459",
"entity_name": "PRDM10",
"entity_type": "gene"
},
{
"created": "2023-08-04T11:53:15.549153+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRDM10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Birt-Hogg-Dube syndrome 2, MIM# 620459; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRDM10",
"entity_type": "gene"
},
{
"created": "2023-08-04T11:52:14.488671+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLCB4 were changed from Auriculocondylar syndrome 2, MIM# 614669 to Auriculocondylar syndrome 2A, MIM# 614669; Auriculocondylar syndrome 2B, MIM# 620458",
"entity_name": "PLCB4",
"entity_type": "gene"
},
{
"created": "2023-08-04T11:51:57.657431+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLCB4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Auriculocondylar syndrome 2A, MIM# 614669, Auriculocondylar syndrome 2B, MIM# 620458; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PLCB4",
"entity_type": "gene"
},
{
"created": "2023-08-04T11:51:41.485356+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLCB4 were changed from Auriculocondylar syndrome 2, MIM# 614669; Cleft palate to Auriculocondylar syndrome 2A, MIM# 614669; Auriculocondylar syndrome 2B, MIM# 620458; Cleft palate",
"entity_name": "PLCB4",
"entity_type": "gene"
},
{
"created": "2023-08-04T11:51:30.383545+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PLCB4: Changed phenotypes: AAuriculocondylar syndrome 2A, MIM# 614669, Auriculocondylar syndrome 2B, MIM# 620458",
"entity_name": "PLCB4",
"entity_type": "gene"
},
{
"created": "2023-08-04T11:51:16.954771+10:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PLCB4: Changed phenotypes: Auriculocondylar syndrome 2A, MIM# 614669, Auriculocondylar syndrome 2B, MIM# 620458",
"entity_name": "PLCB4",
"entity_type": "gene"
},
{
"created": "2023-08-04T11:51:07.787340+10:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLCB4 were changed from Auriculocondylar syndrome 2, MIM# 614669 to Auriculocondylar syndrome 2A, MIM# 614669; Auriculocondylar syndrome 2B, MIM# 620458",
"entity_name": "PLCB4",
"entity_type": "gene"
},
{
"created": "2023-08-04T11:49:57.601914+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLCB4 were changed from Auriculocondylar syndrome 2, MIM# 614669 to Auriculocondylar syndrome 2A, MIM# 614669; Auriculocondylar syndrome 2B, MIM# 620458",
"entity_name": "PLCB4",
"entity_type": "gene"
},
{
"created": "2023-08-04T11:49:35.610337+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PLCB4: Changed phenotypes: Auriculocondylar syndrome 2A, MIM# 614669, Auriculocondylar syndrome 2B, MIM# 620458",
"entity_name": "PLCB4",
"entity_type": "gene"
},
{
"created": "2023-08-04T11:49:18.488675+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLCB4 were changed from Auriculocondylar syndrome 2, MIM# 614669 to Auriculocondylar syndrome 2A, MIM# 614669; Auriculocondylar syndrome 2B, MIM# 620458",
"entity_name": "PLCB4",
"entity_type": "gene"
},
{
"created": "2023-08-04T11:48:44.628870+10:00",
"panel_name": "Mandibulofacial Acrofacial dysostosis",
"panel_id": 136,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PLCB4: Changed phenotypes: Auriculocondylar syndrome 2A, MIM# 614669, Auriculocondylar syndrome 2B, MIM# 620458",
"entity_name": "PLCB4",
"entity_type": "gene"
},
{
"created": "2023-08-04T11:28:28.626744+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBX5 as ready",
"entity_name": "TBX5",
"entity_type": "gene"
},
{
"created": "2023-08-04T11:28:28.613934+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx5 has been classified as Green List (High Evidence).",
"entity_name": "TBX5",
"entity_type": "gene"
},
{
"created": "2023-08-04T11:28:24.979263+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBX5 as Green List (high evidence)",
"entity_name": "TBX5",
"entity_type": "gene"
},
{
"created": "2023-08-04T11:28:24.966341+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx5 has been classified as Green List (High Evidence).",
"entity_name": "TBX5",
"entity_type": "gene"
},
{
"created": "2023-08-04T11:28:16.729263+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBX5 was added\ngene: TBX5 was added to Cardiomyopathy_Paediatric. Sources: Expert Review\nMode of inheritance for gene: TBX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TBX5 were set to 32449309; 32236096; 25963046; 25725155\nPhenotypes for gene: TBX5 were set to Holt-Oram syndrome, MIM# 142900; Dilated cardiomyopathy\nReview for gene: TBX5 was set to GREEN\nAdded comment: DCM is a feature of this congenital disorder. \nSources: Expert Review",
"entity_name": "TBX5",
"entity_type": "gene"
},
{
"created": "2023-08-04T11:26:24.471024+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBX20 as ready",
"entity_name": "TBX20",
"entity_type": "gene"
},
{
"created": "2023-08-04T11:26:24.460653+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx20 has been classified as Green List (High Evidence).",
"entity_name": "TBX20",
"entity_type": "gene"
},
{
"created": "2023-08-04T11:26:11.253070+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBX20 as Green List (high evidence)",
"entity_name": "TBX20",
"entity_type": "gene"
},
{
"created": "2023-08-04T11:26:11.238887+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx20 has been classified as Green List (High Evidence).",
"entity_name": "TBX20",
"entity_type": "gene"
},
{
"created": "2023-08-04T11:26:03.224332+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBX20 was added\ngene: TBX20 was added to Cardiomyopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TBX20 were set to 26118961; 17668378; 27510170; 35282022\nPhenotypes for gene: TBX20 were set to Dilated cardiomyopathy, MONDO:0005021, TBX20-related\nReview for gene: TBX20 was set to GREEN\nAdded comment: Multiple reports in literature, including of children. Also aware of additional four families identified internally, publication pending. \nSources: Literature",
"entity_name": "TBX20",
"entity_type": "gene"
},
{
"created": "2023-08-04T11:24:32.596926+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBX20 were changed from Dilated cardiomyopathy to Dilated cardiomyopathy, MONDO:0005021, TBX20-related",
"entity_name": "TBX20",
"entity_type": "gene"
},
{
"created": "2023-08-04T11:24:01.336656+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBX20 were set to 26118961; 17668378; 27510170",
"entity_name": "TBX20",
"entity_type": "gene"
},
{
"created": "2023-08-04T11:23:28.780930+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBX20 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBX20",
"entity_type": "gene"
},
{
"created": "2023-08-04T11:23:01.341595+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBX20 as Green List (high evidence)",
"entity_name": "TBX20",
"entity_type": "gene"
},
{
"created": "2023-08-04T11:23:01.329268+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx20 has been classified as Green List (High Evidence).",
"entity_name": "TBX20",
"entity_type": "gene"
},
{
"created": "2023-08-04T11:22:31.092766+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBX20: Rating: GREEN; Mode of pathogenicity: None; Publications: 35282022; Phenotypes: Dilated cardiomyopathy, MONDO:0005021, TBX20-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBX20",
"entity_type": "gene"
},
{
"created": "2023-08-04T11:17:55.337738+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRDM16 as ready",
"entity_name": "PRDM16",
"entity_type": "gene"
},
{
"created": "2023-08-04T11:17:55.325971+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdm16 has been classified as Green List (High Evidence).",
"entity_name": "PRDM16",
"entity_type": "gene"
},
{
"created": "2023-08-04T11:17:51.391423+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRDM16 as Green List (high evidence)",
"entity_name": "PRDM16",
"entity_type": "gene"
},
{
"created": "2023-08-04T11:17:51.381963+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdm16 has been classified as Green List (High Evidence).",
"entity_name": "PRDM16",
"entity_type": "gene"
},
{
"created": "2023-08-04T11:17:35.916289+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRDM16 was added\ngene: PRDM16 was added to Cardiomyopathy_Paediatric. Sources: Expert Review\nMode of inheritance for gene: PRDM16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRDM16 were set to 29367541; 29447731; 30847666; 33082984; 32183154; 33500567; 34540771; 34350506; 34935411\nPhenotypes for gene: PRDM16 were set to Cardiomyopathy, dilated, 1LL MIM#615373; Left ventricular noncompaction 8 MIM#615373\nReview for gene: PRDM16 was set to GREEN\nAdded comment: Paediatric onset reported. \nSources: Expert Review",
"entity_name": "PRDM16",
"entity_type": "gene"
},
{
"created": "2023-08-04T10:24:38.936927+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked STR: LRP12-ALS_CGG as ready",
"entity_name": "LRP12-ALS_CGG",
"entity_type": "str"
},
{
"created": "2023-08-04T10:24:38.922773+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Str: lrp12-als_cgg has been classified as Green List (High Evidence).",
"entity_name": "LRP12-ALS_CGG",
"entity_type": "str"
},
{
"created": "2023-08-04T10:24:35.266960+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for STR: LRP12-ALS_CGG were changed from Amyotrophic lateral sclerosis MONDO:0004976 to Amyotrophic lateral sclerosis MONDO:0004976; Amyotrophic lateral sclerosis 28, MIM#\t620452",
"entity_name": "LRP12-ALS_CGG",
"entity_type": "str"
},
{
"created": "2023-08-04T10:23:04.126815+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL1R1 as ready",
"entity_name": "IL1R1",
"entity_type": "gene"
},
{
"created": "2023-08-04T10:23:04.115546+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il1r1 has been classified as Red List (Low Evidence).",
"entity_name": "IL1R1",
"entity_type": "gene"
},
{
"created": "2023-08-04T10:22:54.276154+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL1R1 was added\ngene: IL1R1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: IL1R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IL1R1 were set to 37315560\nPhenotypes for gene: IL1R1 were set to Chronic recurrent multifocal osteomyelitis 3, MIM# 259680\nReview for gene: IL1R1 was set to RED\nAdded comment: Single individual reported with de novo missense variant in this gene and a phenotype of chronic recurrent multifocal osteomyelitis, auto inflammatory in nature. Some functional data presented. \nSources: Literature",
"entity_name": "IL1R1",
"entity_type": "gene"
},
{
"created": "2023-08-04T10:20:55.769067+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL1R1 as ready",
"entity_name": "IL1R1",
"entity_type": "gene"
},
{
"created": "2023-08-04T10:20:55.759195+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il1r1 has been classified as Red List (Low Evidence).",
"entity_name": "IL1R1",
"entity_type": "gene"
},
{
"created": "2023-08-04T10:20:33.776715+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL1R1 was added\ngene: IL1R1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature\nMode of inheritance for gene: IL1R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IL1R1 were set to 37315560\nPhenotypes for gene: IL1R1 were set to Chronic recurrent multifocal osteomyelitis 3, MIM#\t259680\nReview for gene: IL1R1 was set to RED\nAdded comment: Single individual reported with de novo missense variant in this gene and a phenotype of chronic recurrent multifocal osteomyelitis, auto inflammatory in nature. Some functional data presented. \nSources: Literature",
"entity_name": "IL1R1",
"entity_type": "gene"
},
{
"created": "2023-08-03T13:41:37.638715+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STAB1 as ready",
"entity_name": "STAB1",
"entity_type": "gene"
},
{
"created": "2023-08-03T13:41:37.629127+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stab1 has been classified as Green List (High Evidence).",
"entity_name": "STAB1",
"entity_type": "gene"
},
{
"created": "2023-08-03T13:41:11.257872+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STAB1 as Green List (high evidence)",
"entity_name": "STAB1",
"entity_type": "gene"
},
{
"created": "2023-08-03T13:41:11.236831+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stab1 has been classified as Green List (High Evidence).",
"entity_name": "STAB1",
"entity_type": "gene"
},
{
"created": "2023-08-03T13:38:00.958675+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RINT1 were changed from Recurrent acute liver failure to Infantile liver failure syndrome 3, MIM# 618641",
"entity_name": "RINT1",
"entity_type": "gene"
},
{
"created": "2023-08-03T13:37:34.190813+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RINT1 as ready",
"entity_name": "RINT1",
"entity_type": "gene"
},
{
"created": "2023-08-03T13:37:34.178772+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rint1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RINT1",
"entity_type": "gene"
}
]
}