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{
"count": 220437,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=956",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=954",
"results": [
{
"created": "2022-03-02T17:34:17.180205+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pklr has been classified as Green List (High Evidence).",
"entity_name": "PKLR",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:34:12.706953+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PKLR were set to ",
"entity_name": "PKLR",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:33:00.792600+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PMM2 as ready",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:33:00.739289+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmm2 has been classified as Green List (High Evidence).",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:32:56.376305+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PMM2 were changed from CONGENITAL DISORDERS OF GLYCOSYLATION to Congenital disorder of glycosylation, type Ia , MIM#212065",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:32:44.263306+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PMM2 were set to ",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:32:29.210520+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ia , MIM#212065; Mode of inheritance: None",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:29:48.750715+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNKP as ready",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:29:48.734635+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4559",
"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": "2022-03-02T17:29:44.771820+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNKP were changed from ATAXIA-OCULOMOTOR APRAXIA 4; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10 to Microcephaly, seizures, and developmental delay, MIM#613402",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:28:29.832233+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PNKP were set to ",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:27:32.513747+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POC1A as ready",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:27:32.501973+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: poc1a has been classified as Green List (High Evidence).",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:27:28.254799+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POC1A were changed from PRIMORDIAL DWARFISM; SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM#614813",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:27:09.339848+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: ID is not a prominent feature of the phenotype.; to: Skeletal dysplasia.",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:26:51.661638+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POC1A: Changed rating: GREEN",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:25:39.766923+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POGZ as ready",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:25:39.756679+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pogz has been classified as Green List (High Evidence).",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:25:35.382456+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POGZ were changed from INTELLECTUAL DISABILITY to White-Sutton syndrome, MIM# 616364; MONDO:0014606",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:21:40.144757+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POGZ were set to ",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:21:39.918166+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4554",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: PLK1 was added\ngene: PLK1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: PLK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLK1 were set to 33875846\nPhenotypes for gene: PLK1 were set to Epilepsy; microcephaly; intellectual disability\nReview for gene: PLK1 was set to AMBER\ngene: PLK1 was marked as current diagnostic\nAdded comment: Five individuals reported with microcephaly. However, unclear if microcephaly is pre or post natal. \nSources: Literature",
"entity_name": "PLK1",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:21:26.815960+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POGZ was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:20:57.659362+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: White-Sutton syndrome is a neurodevelopmental disorder characterized by delayed psychomotor development apparent in infancy and a characteristic constellation of dysmorphic facial features. Additional features may include hypotonia, sensorineural hearing impairment, visual defects, joint laxity, and gastrointestinal difficulties, such as poor feeding.\r\n\r\nMore than 40 individuals reported.; to: White-Sutton syndrome is a neurodevelopmental disorder characterized by delayed psychomotor development apparent in infancy and a characteristic constellation of dysmorphic facial features. Additional features may include hypotonia, sensorineural hearing impairment, visual defects, joint laxity, and gastrointestinal difficulties, such as poor feeding.\r\n\r\nMore than 40 individuals reported.\r\n\r\nMicrocephaly is a feature, congenital heart disease rarely reported.",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:19:14.836511+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR1C as ready",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:19:14.824270+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr1c has been classified as Green List (High Evidence).",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:18:57.456372+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLR1C were changed from TREACHER COLLINS SYNDROME TYPE 3 to Treacher Collins syndrome 3, MIM# 248390",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:18:44.858028+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POLR1C were set to ",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:18:29.447036+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 8 unrelated individuals reported, ID is part of the phenotype. \nSources: Expert list; to: Treacher Collins more likely to be detected antenatally.\r\n\r\nSources: Expert list",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:18:06.555596+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POLR1C: Changed phenotypes: Leukodystrophy, hypomyelinating, 11, MIM# 616494, Treacher Collins syndrome 3, MIM# 248390",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:16:51.920001+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMGNT2 as ready",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:16:51.910137+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomgnt2 has been classified as Green List (High Evidence).",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:16:47.934834+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMGNT2 were changed from WALKER WARBERG SYNDROME to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, MIM# 614830",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:16:29.088587+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POMGNT2: Changed phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:15:13.158685+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMK as ready",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:15:13.147816+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomk has been classified as Green List (High Evidence).",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:14:19.729716+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMT1 as ready",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:14:19.719972+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomt1 has been classified as Green List (High Evidence).",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:14:15.374594+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMT1 were changed from MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C1; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B1; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A1 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670; Walker-Walburg syndrome",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:14:00.685254+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POMT1 were set to ",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:12:38.168188+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMT2 as ready",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:12:38.155736+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomt2 has been classified as Green List (High Evidence).",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:12:34.056639+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMT2 were changed from MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A2; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B2; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C2 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:12:19.512506+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POMT2 were set to ",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:12:03.353162+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POMT2: Changed phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:11:49.045668+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease association, multiple anomalies at the more severe end of the spectrum.",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2022-03-02T16:49:03.150598+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4546",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: PIGH was added\ngene: PIGH was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: PIGH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIGH were set to 29573052; 33156547; 29603516\nPhenotypes for gene: PIGH were set to Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010\nReview for gene: PIGH was set to AMBER\ngene: PIGH was marked as current diagnostic\nAdded comment: Microcephaly appears to present at postnatal in these individuals.\r\n\r\nThree further families reported, including two sibs with microcephaly. \nSources: Literature",
"entity_name": "PIGH",
"entity_type": "gene"
},
{
"created": "2022-03-02T16:36:46.537594+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4546",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: PHC1 was added\ngene: PHC1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: PHC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PHC1 were set to 23418308\nPhenotypes for gene: PHC1 were set to Microcephaly 11, primary, autosomal recessive, MIM#615414\nReview for gene: PHC1 was set to RED\ngene: PHC1 was marked as current diagnostic\nAdded comment: Short stature and microcephaly, currently not enough information. \r\n\r\nSingle family reported with functional data. \nSources: Literature",
"entity_name": "PHC1",
"entity_type": "gene"
},
{
"created": "2022-03-02T16:28:45.235612+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POR as ready",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2022-03-02T16:28:45.223805+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: por has been classified as Green List (High Evidence).",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2022-03-02T16:27:58.101918+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PORCN as ready",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2022-03-02T16:27:58.090431+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: porcn has been classified as Green List (High Evidence).",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2022-03-02T16:27:53.874179+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PORCN were changed from FOCAL DERMAL HYPOPLASIA to Focal dermal hypoplasia, MIM# 305600",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2022-03-02T16:27:42.264430+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PORCN were set to ",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2022-03-02T16:27:06.742743+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POU1F1 as ready",
"entity_name": "POU1F1",
"entity_type": "gene"
},
{
"created": "2022-03-02T16:27:06.730168+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pou1f1 has been classified as Green List (High Evidence).",
"entity_name": "POU1F1",
"entity_type": "gene"
},
{
"created": "2022-03-02T16:27:03.116656+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4544",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POU1F1 were changed from POU1F1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY to Pituitary hormone deficiency, combined, 1, MIM# 613038",
"entity_name": "POU1F1",
"entity_type": "gene"
},
{
"created": "2022-03-02T16:26:50.099066+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POU1F1 were set to ",
"entity_name": "POU1F1",
"entity_type": "gene"
},
{
"created": "2022-03-02T16:26:34.039097+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Hypotonia with untreated hypothyroidism, not truly ID.; to: Presentation with hydrops reported.",
"entity_name": "POU1F1",
"entity_type": "gene"
},
{
"created": "2022-03-02T16:26:14.888153+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POU1F1: Changed rating: GREEN; Changed publications: 7593413",
"entity_name": "POU1F1",
"entity_type": "gene"
},
{
"created": "2022-03-02T16:24:05.743323+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP2R1A as ready",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2022-03-02T16:24:05.731423+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2r1a has been classified as Green List (High Evidence).",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2022-03-02T16:24:02.202703+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPP2R1A were changed from INTELLECTUAL DISABILITY to Mental retardation, autosomal dominant 36, MIM#616362; Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome, MONDO:0014605",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2022-03-02T16:23:50.321325+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPP2R1A were set to ",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2022-03-02T16:23:39.331737+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: PPP2R1A was changed from to Other",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2022-03-02T16:23:26.794829+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPP2R1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2022-03-02T16:22:58.210011+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP2R5D as ready",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2022-03-02T16:22:58.199183+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2r5d has been classified as Green List (High Evidence).",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2022-03-02T16:22:53.944154+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPP2R5D were changed from INTELLECTUAL DISABILITY to Mental retardation, autosomal dominant 35, MIM#616355",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2022-03-02T16:22:42.206023+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPP2R5D were set to ",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2022-03-02T16:22:29.500385+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPP2R5D was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2022-03-02T16:22:16.459755+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: (P/LP in ClinVar): >15 missense, 1 PTC DN missense mechanism suspected: Functional studies showed defective holoenzyme assembly in transfected HEK293 cells and mutant subunits hindering dephosphorylation of B56δ-anchored substrates. Moreover,. p.P53S was the only variant to not show defective binding - authors speculate an alternative mechanism. Unknown mechanism for PTCs: pLI = 1 and very few in gnomAD. Missense variants cluster p.198-207 (Decipher).; to: (P/LP in ClinVar): >15 missense, 1 PTC DN missense mechanism suspected: Functional studies showed defective holoenzyme assembly in transfected HEK293 cells and mutant subunits hindering dephosphorylation of B56δ-anchored substrates. Moreover,. p.P53S was the only variant to not show defective binding - authors speculate an alternative mechanism. Unknown mechanism for PTCs: pLI = 1 and very few in gnomAD. Missense variants cluster p.198-207 (Decipher).\r\n\r\nHydrocephalus reported in some.",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2022-03-02T16:21:00.593783+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP1CB as ready",
"entity_name": "PPP1CB",
"entity_type": "gene"
},
{
"created": "2022-03-02T16:21:00.483867+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp1cb has been classified as Green List (High Evidence).",
"entity_name": "PPP1CB",
"entity_type": "gene"
},
{
"created": "2022-03-02T16:20:56.918310+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPP1CB were changed from Rasopathy with developmental delay, short stature and sparse slow-growing hair to Noonan syndrome-like disorder with loose anlagen hair 2, OMIM # 617506",
"entity_name": "PPP1CB",
"entity_type": "gene"
},
{
"created": "2022-03-02T16:20:41.110674+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPP1CB were set to ",
"entity_name": "PPP1CB",
"entity_type": "gene"
},
{
"created": "2022-03-02T16:19:07.016354+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPP1CB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPP1CB",
"entity_type": "gene"
},
{
"created": "2022-03-02T15:26:17.604228+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4532",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: PDCD6IP was added\ngene: PDCD6IP was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: PDCD6IP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDCD6IP were set to 32286682\nPhenotypes for gene: PDCD6IP were set to Primary microcephaly\nReview for gene: PDCD6IP was set to AMBER\ngene: PDCD6IP was marked as current diagnostic\nAdded comment: Primary microcephaly was noticed at birth and their occipital-frontal circumference (OFC) was ≤−2 standard deviations (SD), may be relevant for this panel however, currently not enough information.\r\n\r\nOne consanguineous family with 2 affected sibs with primary microcephaly (-4SD), intellectual disability and short stature (-5/6SD), and homozygous frameshift variant in PDCD6IP. The homozygous variant was confirmed in both affected sibs, while the four healthy siblings and parents were heterozygous. The clinical features observed in the patients were similar to the phenotypes observed in mouse and zebrafish models of PDCD6IP mutations in previous studies. \nSources: Literature",
"entity_name": "PDCD6IP",
"entity_type": "gene"
},
{
"created": "2022-03-02T14:47:34.274642+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4532",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: PCYT2 was added\ngene: PCYT2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCYT2 were set to 31637422\nPhenotypes for gene: PCYT2 were set to Spastic paraplegia 82, autosomal recessive\tMIM#618770\nReview for gene: PCYT2 was set to RED\ngene: PCYT2 was marked as current diagnostic\nAdded comment: Brain imaging shows progressive cerebral and cerebellar atrophy however, normal initially.\r\n\r\n5 individuals from 4 families reported with progressive neurologic disorder characterized by global developmental delay apparent from infancy, significant motor impairment, and progressive spasticity mainly affecting the lower limbs. Some never achieved walking, whereas others lost the ability to walk or walk with an unsteady gait. Additional features included variably impaired intellectual development with language difficulties, ocular anomalies, such as nystagmus and visual impairment, and seizures. Brain imaging shows progressive cerebral and cerebellar atrophy, as well as white matter hyperintensities. Overall poor growth, but only one individual reported with microcephaly -3SD, and head size appears relatively spared against other reported growth parameters. \nSources: Literature",
"entity_name": "PCYT2",
"entity_type": "gene"
},
{
"created": "2022-03-02T14:28:10.970088+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4532",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: PCDH12 was added\ngene: PCDH12 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCDH12 were set to 27164683; 30178464\nPhenotypes for gene: PCDH12 were set to Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280\nReview for gene: PCDH12 was set to GREEN\ngene: PCDH12 was marked as current diagnostic\nAdded comment: Brain malformations were detectable antenatally.\r\n\r\nDiencephalic-mesencephalic junction dysplasia syndrome-1 (DMJDS1) is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly, severely delayed or even absent psychomotor development with profound intellectual disability, and spasticity or dystonia. Some patients may have seizures and/or visual impairment. Brain imaging shows a characteristic developmental malformation of the midbrain; subtle intracranial calcifications may also be present. At least 12 families reported. \nSources: Literature",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2022-03-02T14:17:27.165669+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4532",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: PARP6 was added\ngene: PARP6 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: PARP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PARP6 were set to 34067418\nPhenotypes for gene: PARP6 were set to Intellectual disability; Epilepsy; Microcephaly\nReview for gene: PARP6 was set to GREEN\ngene: PARP6 was marked as current diagnostic\nAdded comment: IUGR and partial agenesis of the corpus callosum has been observed.\r\n\r\nFour unrelated individuals reported with de novo variants in this gene and a neurodevelopmental phenotype. Supportive functional data. One pair of siblings with a homozygous missense: limited evidence for bi-allelic variants causing disease. \nSources: Literature",
"entity_name": "PARP6",
"entity_type": "gene"
},
{
"created": "2022-03-02T07:33:57.012817+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL6ST were changed from Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523; Stuve-Wiedemann syndrome 2, MIM# 619751: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response; Hyper-IgE syndrome, autosomal dominant; Immunodeficiency 94 with autoinflammation and dysmorphic facies, MIM# 619750 to Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523; Stuve-Wiedemann syndrome 2, MIM# 619751: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response; Hyper-IgE recurrent infection syndrome 4A, autosomal dominant, MIM#\t619752; Immunodeficiency 94 with autoinflammation and dysmorphic facies, MIM# 619750",
"entity_name": "IL6ST",
"entity_type": "gene"
},
{
"created": "2022-03-02T07:32:08.629791+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL6ST as ready",
"entity_name": "IL6ST",
"entity_type": "gene"
},
{
"created": "2022-03-02T07:32:08.619410+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il6st has been classified as Red List (Low Evidence).",
"entity_name": "IL6ST",
"entity_type": "gene"
},
{
"created": "2022-03-02T07:32:01.917894+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL6ST was added\ngene: IL6ST was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature\nMode of inheritance for gene: IL6ST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IL6ST were set to 33517393\nPhenotypes for gene: IL6ST were set to Immunodeficiency 94 with autoinflammation and dysmorphic facies \t619750\nReview for gene: IL6ST was set to RED\nAdded comment: PMID: 33517393 - Materna-Kiryluk et al 2021 - describe a patient with a novel syndrome of neonatal onset immunodeficiency with autoinflammation and dysmorphic features. The patient was found using exome sequencing to have a de novo IL6ST Tyr186_Tyr190del variant, which was present as a mosaic. It was found in around 15–40% of cells depending on the tissue (blood, urine sediment, hair bulbs and buccal swab). \nSources: Literature",
"entity_name": "IL6ST",
"entity_type": "gene"
},
{
"created": "2022-03-02T07:29:36.685517+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11087",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL6ST were changed from Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523; Stuve-Wiedemann syndrome 2, MIM# 619751: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response; Hyper-IgE syndrome, autosomal dominant to Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523; Stuve-Wiedemann syndrome 2, MIM# 619751: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response; Hyper-IgE syndrome, autosomal dominant; Immunodeficiency 94 with autoinflammation and dysmorphic facies, MIM# 619750",
"entity_name": "IL6ST",
"entity_type": "gene"
},
{
"created": "2022-03-02T07:29:09.463649+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IL6ST: Changed phenotypes: Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523, Stuve-Wiedemann syndrome 2, MIM# 619751: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response, Hyper-IgE syndrome, autosomal dominant, Immunodeficiency 94 with autoinflammation and dysmorphic facies, MIM# 619750",
"entity_name": "IL6ST",
"entity_type": "gene"
},
{
"created": "2022-03-01T19:09:12.970646+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: PUF60: Multiple congenital anomalies.",
"entity_name": "PUF60",
"entity_type": "gene"
},
{
"created": "2022-03-01T19:08:23.898561+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSAP were changed from Combined SAP deficiency, MIM# 611721; Encephalopathy due to prosaposin deficiency, MONDO:0012719; Krabbe disease, atypical, MIM# 611722, MONDO:0012720; Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900, MONDO:0009590; Gaucher disease, atypical, MIM# 610539, MONDO:0012517 to Combined SAP deficiency, MIM# 611721",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2022-03-01T19:08:01.697838+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PSAP: Added comment: Hepatosplenomegaly at birth at the most severe end of the spectrum.; Changed rating: AMBER; Changed phenotypes: Combined SAP deficiency, MIM# 611721",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2022-03-01T19:06:25.635994+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2022-03-01T19:05:42.372569+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBC1D7 as ready",
"entity_name": "TBC1D7",
"entity_type": "gene"
},
{
"created": "2022-03-01T19:05:42.362303+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBC1D7",
"entity_type": "gene"
},
{
"created": "2022-03-01T19:05:35.447695+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBC1D7 as Amber List (moderate evidence)",
"entity_name": "TBC1D7",
"entity_type": "gene"
},
{
"created": "2022-03-01T19:05:35.433521+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBC1D7",
"entity_type": "gene"
},
{
"created": "2022-03-01T19:04:29.300626+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TAOK1 as ready",
"entity_name": "TAOK1",
"entity_type": "gene"
},
{
"created": "2022-03-01T19:04:29.286918+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taok1 has been classified as Green List (High Evidence).",
"entity_name": "TAOK1",
"entity_type": "gene"
},
{
"created": "2022-03-01T19:04:23.944957+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TAOK1 as Green List (high evidence)",
"entity_name": "TAOK1",
"entity_type": "gene"
},
{
"created": "2022-03-01T19:04:23.935630+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taok1 has been classified as Green List (High Evidence).",
"entity_name": "TAOK1",
"entity_type": "gene"
},
{
"created": "2022-03-01T19:03:51.125026+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STT3A as ready",
"entity_name": "STT3A",
"entity_type": "gene"
},
{
"created": "2022-03-01T19:03:51.110546+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stt3a has been classified as Green List (High Evidence).",
"entity_name": "STT3A",
"entity_type": "gene"
}
]
}