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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=564",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&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"
}
]
}