{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=564","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=562","results":[{"created":"2023-08-08T18:43:49.004387+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.235","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OPA1 as ready","entity_name":"OPA1","entity_type":"gene"},{"created":"2023-08-08T18:43:48.994402+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.235","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: opa1 has been classified as Green List (High Evidence).","entity_name":"OPA1","entity_type":"gene"},{"created":"2023-08-08T18:43:45.599815+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.235","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OPA1 were changed from Optic atrophy plus syndrome, 125250; Optic atrophy 1, 165500; HMSN to Optic atrophy plus syndrome (MIM#125250)","entity_name":"OPA1","entity_type":"gene"},{"created":"2023-08-08T18:43:21.959252+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.234","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: OPA1 were set to ","entity_name":"OPA1","entity_type":"gene"},{"created":"2023-08-08T16:46:30.351891+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.233","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDYN as ready","entity_name":"PDYN","entity_type":"gene"},{"created":"2023-08-08T16:46:30.338609+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.233","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdyn has been classified as Green List (High Evidence).","entity_name":"PDYN","entity_type":"gene"},{"created":"2023-08-08T16:46:24.732794+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.233","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PDYN were changed from Cerebellar ataxia, sensory-motor axonal neuropathy; Spinocerebellar ataxia 23 to Spinocerebellar ataxia 23 (MIM#610245); Cerebellar ataxia, sensory-motor axonal neuropathy; Spinocerebellar ataxia 23","entity_name":"PDYN","entity_type":"gene"},{"created":"2023-08-08T16:46:04.581241+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.232","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PDYN were set to ","entity_name":"PDYN","entity_type":"gene"},{"created":"2023-08-08T16:45:43.080697+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.231","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PDYN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 23 (MIM#610245); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PDYN","entity_type":"gene"},{"created":"2023-08-08T16:44:52.055314+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.231","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX7 as ready","entity_name":"PEX7","entity_type":"gene"},{"created":"2023-08-08T16:44:52.037145+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.231","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex7 has been classified as Red List (Low Evidence).","entity_name":"PEX7","entity_type":"gene"},{"created":"2023-08-08T16:44:49.064630+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.231","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PEX7 were set to ","entity_name":"PEX7","entity_type":"gene"},{"created":"2023-08-08T16:44:25.898151+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.230","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PEX7 as Red List (low evidence)","entity_name":"PEX7","entity_type":"gene"},{"created":"2023-08-08T16:44:25.888460+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.230","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex7 has been classified as Red List (Low Evidence).","entity_name":"PEX7","entity_type":"gene"},{"created":"2023-08-08T16:39:52.904910+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.229","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PHYH as ready","entity_name":"PHYH","entity_type":"gene"},{"created":"2023-08-08T16:39:52.888833+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.229","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: phyh has been classified as Green List (High Evidence).","entity_name":"PHYH","entity_type":"gene"},{"created":"2023-08-08T16:39:48.966614+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.229","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PHYH were changed from Refsum disease; Phytanic acid storage disease to Refsum Disease MIM#266500","entity_name":"PHYH","entity_type":"gene"},{"created":"2023-08-08T16:39:31.614984+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.228","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PHYH were set to ","entity_name":"PHYH","entity_type":"gene"},{"created":"2023-08-08T16:39:06.493934+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.227","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PHYH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Refsum Disease MIM#266500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PHYH","entity_type":"gene"},{"created":"2023-08-08T16:37:59.744547+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.227","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLA2G6 as ready","entity_name":"PLA2G6","entity_type":"gene"},{"created":"2023-08-08T16:37:59.730941+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.227","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pla2g6 has been classified as Green List (High Evidence).","entity_name":"PLA2G6","entity_type":"gene"},{"created":"2023-08-08T16:37:55.130324+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.227","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLA2G6 were changed from Infantile-onset, progressive neurodegeneration (tetraplegia, dementia, visual loss) and axonal sensory-motor neuropathy, globus pallidus iron deposition on MRI to Infantile neuroaxonal dystrophy 1 (MIM#256600); Neurodegeneration with brain iron accumulation 2B (MIM#610217)","entity_name":"PLA2G6","entity_type":"gene"},{"created":"2023-08-08T16:36:17.184891+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.226","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PLA2G6 were set to ","entity_name":"PLA2G6","entity_type":"gene"},{"created":"2023-08-08T16:35:56.914833+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.225","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: None; Publications: 29859652; 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":"2023-08-08T16:33:44.922520+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1099","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DPP9 were changed from Autoinflammatory syndrome MONDO:0019751, DPP9-related; recurrent fevers; repeated infections; herpes susceptibility; cytopenias to Hatipoglu immunodeficiency syndrome MIM#620331; Autoinflammatory syndrome MONDO:0019751, DPP9-related; recurrent fevers; repeated infections; herpes susceptibility; cytopenias","entity_name":"DPP9","entity_type":"gene"},{"created":"2023-08-08T16:33:33.399560+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1098","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DPP9 were changed from Autoinflammatory syndrome MONDO:0019751, DPP9-related; recurrent fevers; repeated infections; herpes susceptibility; cytopenias to Autoinflammatory syndrome MONDO:0019751, DPP9-related; recurrent fevers; repeated infections; herpes susceptibility; cytopenias","entity_name":"DPP9","entity_type":"gene"},{"created":"2023-08-08T16:33:20.417200+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1097","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DPP9 were set to 36112693","entity_name":"DPP9","entity_type":"gene"},{"created":"2023-08-08T16:32:31.197907+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1096","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DPP9 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DPP9","entity_type":"gene"},{"created":"2023-08-08T16:32:10.760656+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1095","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DPP9: Added comment: Amber for mono-allelic association:\r\n\r\nde novo monoallelic dominant-negative mutation in DPP9 (c.755G>C, R252P) presenting with HLH at ~2m. Functional data supporting dominant negative mechanism.; Changed publications: 36112693, 37544411; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DPP9","entity_type":"gene"},{"created":"2023-08-08T16:31:00.286237+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DPP9 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DPP9","entity_type":"gene"},{"created":"2023-08-08T16:29:24.940311+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.225","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLP1 as ready","entity_name":"PLP1","entity_type":"gene"},{"created":"2023-08-08T16:29:24.929334+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.225","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plp1 has been classified as Amber List (Moderate Evidence).","entity_name":"PLP1","entity_type":"gene"},{"created":"2023-08-08T16:28:46.694668+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.225","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLP1 were changed from Pelizaeus-Merzbacher disease; Infantile-onset, nystagmus, cognitive impairment, spasticity and ataxia, leukodystrophy on MRI, mild multifocal SNCV neuropathy seen with null mutations and more mild phenotype of mild spasticity and ataxia; HMSN to Pelizaeus-Merzbacher disease (MIM#312080)","entity_name":"PLP1","entity_type":"gene"},{"created":"2023-08-08T16:28:23.926295+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.224","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PLP1 were set to ","entity_name":"PLP1","entity_type":"gene"},{"created":"2023-08-08T16:28:02.998195+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.223","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLP1 as Amber List (moderate evidence)","entity_name":"PLP1","entity_type":"gene"},{"created":"2023-08-08T16:28:02.988150+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.223","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plp1 has been classified as Amber List (Moderate Evidence).","entity_name":"PLP1","entity_type":"gene"},{"created":"2023-08-08T16:25:07.847660+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.222","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PNKP as ready","entity_name":"PNKP","entity_type":"gene"},{"created":"2023-08-08T16:25:07.838223+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.222","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pnkp has been classified as Green List (High Evidence).","entity_name":"PNKP","entity_type":"gene"},{"created":"2023-08-08T16:25:05.078670+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.222","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PNKP were changed from Ataxia-oculomotor apraxia 4, 616267; Microcephaly, global developmental delay, progressive cerebellar ataxia and atrophy, sensory-motor axonal neuropathy; Microcephaly, seizures, and developmental delay, 613402; HMSN to Charcot-Marie-Tooth disease, axonal, type 2B2 (MIM#605589); Ataxia-oculomotor apraxia 4 (MIM#616267)","entity_name":"PNKP","entity_type":"gene"},{"created":"2023-08-08T16:24:44.768007+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.221","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PNKP were set to ","entity_name":"PNKP","entity_type":"gene"},{"created":"2023-08-08T16:24:02.882791+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.220","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PNPLA6 as ready","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2023-08-08T16:24:02.872895+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.220","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pnpla6 has been classified as Green List (High Evidence).","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2023-08-08T16:24:00.457703+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.220","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PNPLA6 were changed from progressive distal motor neuropathy beginning in early through late adolescence; Hereditary Neuropathies; Childhood onset of slowly progressive spastic paraplegia to Laurence-Moon Syndrome (LMS) MIM#245800; Spastic Paraplegia Type 39 MIM#612020","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2023-08-08T16:23:44.676929+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.219","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PNPLA6 were set to ","entity_name":"PNPLA6","entity_type":"gene"},{"created":"2023-08-08T16:22:56.634591+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.186","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ADNP as Green List (high evidence)","entity_name":"ADNP","entity_type":"gene"},{"created":"2023-08-08T16:22:56.622018+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.186","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adnp has been classified as Green List (High Evidence).","entity_name":"ADNP","entity_type":"gene"},{"created":"2023-08-08T16:22:05.876091+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.218","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"changed review comment from: Neuropathy not an established feature of CAA - only one reported family. \r\nPMID: 24224623\r\nMultigenerational British family with symptoms of mixed neuropathy (predominantly sensory and autonomic) with a Y163X truncation mutation with the M129V polymorphism.; to: Neuropathy not an established feature of PRNP-related CAA - only one reported family. \r\nPMID: 24224623\r\nMultigenerational British family with symptoms of mixed neuropathy (predominantly sensory and autonomic) with a Y163X truncation mutation with the M129V polymorphism.","entity_name":"PRNP","entity_type":"gene"},{"created":"2023-08-08T16:22:03.794322+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.218","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POLG as ready","entity_name":"POLG","entity_type":"gene"},{"created":"2023-08-08T16:22:03.781004+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.218","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polg has been classified as Green List (High Evidence).","entity_name":"POLG","entity_type":"gene"},{"created":"2023-08-08T16:22:00.926790+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.218","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POLG were changed from Mitochondrial DNA depletion syndrome 4B (MNGIE type); Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Progressive external ophthalmoplegia, autosomal dominant 1; Progressive external ophthalmoplegia, autosomal recessive 1; Cardiomyopathy; sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO); HMSN to Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459","entity_name":"POLG","entity_type":"gene"},{"created":"2023-08-08T16:21:40.112537+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.217","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POLG were set to ","entity_name":"POLG","entity_type":"gene"},{"created":"2023-08-08T16:21:31.723023+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.216","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: PRNP: Rating: RED; Mode of pathogenicity: None; Publications: 24224623; Phenotypes: Inherited prion disease, Cerebral amyloid angiopathy, PRNP-related (MIM#137440); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"PRNP","entity_type":"gene"},{"created":"2023-08-08T16:21:22.860040+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: POLG was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"POLG","entity_type":"gene"},{"created":"2023-08-08T16:17:59.964674+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.35","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SOX17 were changed from Vesicoureteral reflux 3 MIM#613674; Pulmonary arterial hypertension to Heritable pulmonary arterial hypertension, MONDO:0017148, SOX17-related","entity_name":"SOX17","entity_type":"gene"},{"created":"2023-08-08T16:15:56.853341+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.33","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMAD4 were changed from Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome MIM#175050; Pulmonary arterial hypertension to Pulmonary arterial hypertension MONDO:0015924, SMAD4-related","entity_name":"SMAD4","entity_type":"gene"},{"created":"2023-08-08T16:15:42.564349+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.32","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: SMAD4.","entity_name":"SMAD4","entity_type":"gene"},{"created":"2023-08-08T16:15:33.954979+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.32","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SMAD4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary arterial hypertension MONDO:0015924, SMAD4-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SMAD4","entity_type":"gene"},{"created":"2023-08-08T16:15:11.116106+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.32","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: SMAD1.","entity_name":"SMAD1","entity_type":"gene"},{"created":"2023-08-08T16:14:49.907356+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.32","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMAD1 were changed from Pulmonary arterial hypertension to Pulmonary arterial hypertension MONDO:0015924, SMAD1-related","entity_name":"SMAD1","entity_type":"gene"},{"created":"2023-08-08T16:14:34.340409+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.31","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SMAD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary arterial hypertension MONDO:0015924, SMAD1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SMAD1","entity_type":"gene"},{"created":"2023-08-08T16:13:59.758780+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.31","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NOTCH3 were changed from Pulmonary arterial hypertension, MONDO:0015924 to Pulmonary arterial hypertension MONDO:0015924, NOTCH3-related","entity_name":"NOTCH3","entity_type":"gene"},{"created":"2023-08-08T16:13:42.607909+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.30","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: NOTCH3.","entity_name":"NOTCH3","entity_type":"gene"},{"created":"2023-08-08T16:13:33.937543+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.30","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NOTCH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary arterial hypertension MONDO:0015924, NOTCH3-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NOTCH3","entity_type":"gene"},{"created":"2023-08-08T16:12:44.952978+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.30","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: BMPR1B.","entity_name":"BMPR1B","entity_type":"gene"},{"created":"2023-08-08T16:12:36.689022+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.30","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BMPR1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary arterial hypertension MONDO:0015924, BMPR1B-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"BMPR1B","entity_type":"gene"},{"created":"2023-08-08T16:09:49.552077+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1095","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDGFD as ready","entity_name":"PDGFD","entity_type":"gene"},{"created":"2023-08-08T16:09:49.532971+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1095","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdgfd has been classified as Red List (Low Evidence).","entity_name":"PDGFD","entity_type":"gene"},{"created":"2023-08-08T16:09:06.046089+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1095","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PDGFD was added\ngene: PDGFD was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: PDGFD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PDGFD were set to 33187088; 33971972\nPhenotypes for gene: PDGFD were set to Pulmonary arterial hypertension MONDO:0015924, PDGFD-related\nReview for gene: PDGFD was set to RED\nAdded comment: Rated as LIMITED by ClinGen. 10 unique variants (all missense) that have been reported in 10 probands in 2 publications (PMIDs: 33187088, 33971972) are included in this curation. 9 of these variants were observed in a cohort of 1647 idiopathic pulmonary arterial hypertension (IPAH) patients of European Ancestry as part of a case-control study. Variant aggregation analysis revealed a significant burden (p=0.0000172) of likely gene damaging PDGFD variants in the IPAH cohort as compared to a group of 18,819 European controls (PMID:33971972). Gelinas et al. also reported a missense PDGFD variant in a proband with IPAH (PMID:33187088). There is currently no functional evidence demonstrating a damaging effect of any of the reported PDGFD variants in humans. \nSources: Expert list","entity_name":"PDGFD","entity_type":"gene"},{"created":"2023-08-08T16:07:28.601313+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.30","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDGFD as ready","entity_name":"PDGFD","entity_type":"gene"},{"created":"2023-08-08T16:07:28.589406+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdgfd has been classified as Red List (Low Evidence).","entity_name":"PDGFD","entity_type":"gene"},{"created":"2023-08-08T16:07:21.089436+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.30","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PDGFD was added\ngene: PDGFD was added to Pulmonary Arterial Hypertension. Sources: Expert list\nMode of inheritance for gene: PDGFD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PDGFD were set to 33187088; 33971972\nPhenotypes for gene: PDGFD were set to Pulmonary arterial hypertension MONDO:0015924, PDGFD-related\nReview for gene: PDGFD was set to RED\nAdded comment: Rated as LIMITED by ClinGen.\r\n\r\n10 unique variants (all missense) that have been reported in 10 probands in 2 publications (PMIDs: 33187088, 33971972) are included in this curation. 9 of these variants were observed in a cohort of 1647 idiopathic pulmonary arterial hypertension (IPAH) patients of European Ancestry as part of a case-control study. Variant aggregation analysis revealed a significant burden (p=0.0000172) of likely gene damaging PDGFD variants in the IPAH cohort as compared to a group of 18,819 European controls (PMID:33971972). Gelinas et al. also reported a missense PDGFD variant in a proband with IPAH (PMID:33187088). There is currently no functional evidence demonstrating a damaging effect of any of the reported PDGFD variants in humans. \nSources: Expert list","entity_name":"PDGFD","entity_type":"gene"},{"created":"2023-08-08T16:01:55.201143+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1094","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KLF2 were changed from Pulmonary arterial hypertension to Pulmonary arterial hypertension MONDO:0015924, KLF2-related","entity_name":"KLF2","entity_type":"gene"},{"created":"2023-08-08T16:01:35.166476+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1093","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KLF2: Changed phenotypes: Pulmonary arterial hypertension MONDO:0015924, KLF2-related","entity_name":"KLF2","entity_type":"gene"},{"created":"2023-08-08T16:01:11.614469+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KLF2 were changed from Pulmonary arterial hypertension to Pulmonary arterial hypertension MONDO:0015924, KLF2-related","entity_name":"KLF2","entity_type":"gene"},{"created":"2023-08-08T16:00:56.395774+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.28","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KLF2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary arterial hypertension MONDO:0015924, KLF2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KLF2","entity_type":"gene"},{"created":"2023-08-08T15:59:20.139948+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1093","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FBLN2 as ready","entity_name":"FBLN2","entity_type":"gene"},{"created":"2023-08-08T15:59:20.127681+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1093","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbln2 has been classified as Red List (Low Evidence).","entity_name":"FBLN2","entity_type":"gene"},{"created":"2023-08-08T15:58:42.002369+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1093","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FBLN2 was added\ngene: FBLN2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: FBLN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FBLN2 were set to 33971972\nPhenotypes for gene: FBLN2 were set to Pulmonary arterial hypertension MONDO:0015924, FBLN2-related\nReview for gene: FBLN2 was set to RED\nAdded comment: LIMITED by ClinGen. Out of a cohort of 1647 idiopathic PAH cases, 3 rare predicted deleterious missense variants were identified in 6 unrelated individuals with one variant recurrent in four individuals. Gene-disease association also supported by tissue expression data. \nSources: Expert list","entity_name":"FBLN2","entity_type":"gene"},{"created":"2023-08-08T15:57:07.128098+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.28","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FBLN2 as ready","entity_name":"FBLN2","entity_type":"gene"},{"created":"2023-08-08T15:57:07.115466+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbln2 has been classified as Red List (Low Evidence).","entity_name":"FBLN2","entity_type":"gene"},{"created":"2023-08-08T15:56:59.719584+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.28","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FBLN2 was added\ngene: FBLN2 was added to Pulmonary Arterial Hypertension. Sources: Expert list\nMode of inheritance for gene: FBLN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FBLN2 were set to 33971972\nPhenotypes for gene: FBLN2 were set to Pulmonary arterial hypertension MONDO:0015924, FBLN2-related\nReview for gene: FBLN2 was set to RED\nAdded comment: LIMITED by ClinGen. Out of a cohort of 1647 idiopathic PAH cases, 3 rare predicted deleterious missense variants were identified in 6 unrelated individuals with one variant recurrent in four individuals. Gene-disease association also supported by tissue expression data. \nSources: Expert list","entity_name":"FBLN2","entity_type":"gene"},{"created":"2023-08-08T15:54:33.560375+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.27","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BMP10 were changed from Pulmonary arterial hypertension to Pulmonary arterial hypertension MONDO:0015924, BMP10-related","entity_name":"BMP10","entity_type":"gene"},{"created":"2023-08-08T15:54:22.512751+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.26","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BMP10 were set to 30578383","entity_name":"BMP10","entity_type":"gene"},{"created":"2023-08-08T15:54:06.825038+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.25","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BMP10: Rating: AMBER; Mode of pathogenicity: None; Publications: 29843651, 33187088, 31661308, 30578383; Phenotypes: Pulmonary arterial hypertension MONDO:0015924, BMP10-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"BMP10","entity_type":"gene"},{"created":"2023-08-08T15:51:04.245818+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1092","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AQP1 were changed from Pulmonary arterial hypertension to Pulmonary arterial hypertension MONDO:0015924, AQP1-related","entity_name":"AQP1","entity_type":"gene"},{"created":"2023-08-08T15:50:41.759867+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1091","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AQP1 were set to PMID:22683574; 29650961","entity_name":"AQP1","entity_type":"gene"},{"created":"2023-08-08T15:50:18.925949+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1090","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AQP1 as Amber List (moderate evidence)","entity_name":"AQP1","entity_type":"gene"},{"created":"2023-08-08T15:50:18.916486+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1090","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aqp1 has been classified as Amber List (Moderate Evidence).","entity_name":"AQP1","entity_type":"gene"},{"created":"2023-08-08T15:50:00.919000+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1089","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AQP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 37007933, 35627312; Phenotypes: Pulmonary arterial hypertension MONDO:0015924, AQP1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AQP1","entity_type":"gene"},{"created":"2023-08-08T15:49:21.587818+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.25","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AQP1 were changed from Pulmonary arterial hypertension MONDO:0015924, AQP2-related to Pulmonary arterial hypertension MONDO:0015924, AQP1-related","entity_name":"AQP1","entity_type":"gene"},{"created":"2023-08-08T15:49:05.840698+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.24","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: AQP1: Changed phenotypes: Pulmonary arterial hypertension MONDO:0015924, AQP1-related","entity_name":"AQP1","entity_type":"gene"},{"created":"2023-08-08T15:48:14.033202+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.24","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AQP1 were changed from Pulmonary arterial hypertension to Pulmonary arterial hypertension MONDO:0015924, AQP2-related","entity_name":"AQP1","entity_type":"gene"},{"created":"2023-08-08T15:48:03.136504+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AQP1 were set to 22683574; 29650961","entity_name":"AQP1","entity_type":"gene"},{"created":"2023-08-08T15:47:52.161723+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.22","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AQP1 as Amber List (moderate evidence)","entity_name":"AQP1","entity_type":"gene"},{"created":"2023-08-08T15:47:52.150305+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.22","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aqp1 has been classified as Amber List (Moderate Evidence).","entity_name":"AQP1","entity_type":"gene"},{"created":"2023-08-08T15:47:42.014034+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.21","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AQP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 37007933, 35627312; Phenotypes: Pulmonary arterial hypertension MONDO:0015924, AQP2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AQP1","entity_type":"gene"},{"created":"2023-08-08T15:35:41.313064+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1089","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TET2 were changed from Dementia; Lymphoma/myeloid malignancy; Immunodeficiency-75 (IMD75), MIM#619126 to Dementia; Lymphoma/myeloid malignancy; Immunodeficiency-75 (IMD75), MIM#619126; Pulmonary arterial hypertension MONDO:0015924, TET2-related","entity_name":"TET2","entity_type":"gene"},{"created":"2023-08-08T15:35:18.856272+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1088","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TET2 were set to 30890702; 31827242; 32330418","entity_name":"TET2","entity_type":"gene"},{"created":"2023-08-08T15:34:51.029894+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1087","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Association with PAH:\r\nMODERATE by ClinGen. TET2 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.; to: Association with PAH:\r\nMODERATE by ClinGen/Amber rating here. TET2 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.","entity_name":"TET2","entity_type":"gene"},{"created":"2023-08-08T15:34:33.546270+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1087","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TET2: Added comment: Association with PAH:\r\nMODERATE by ClinGen. TET2 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.; Changed publications: 30890702, 31827242, 32330418, 32518946, 32192357; Changed phenotypes: Dementia, Lymphoma/myeloid malignancy, Immunodeficiency-75 (IMD75), MIM#619126, Pulmonary arterial hypertension MONDO:0015924, TET2-related","entity_name":"TET2","entity_type":"gene"}]}