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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1062",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1060",
"results": [
{
"created": "2022-01-05T12:43:58.203014+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gba2 has been classified as Red List (Low Evidence).",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:43:32.228131+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Progressive neurodegenerative condition with childhood onset rather than truly ID.; to: Progressive neurodegenerative condition with childhood onset.",
"entity_name": "GBA2",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:42:11.857709+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GBA as ready",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:42:11.843207+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gba has been classified as Green List (High Evidence).",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:42:05.079645+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GBA were set to 30712880",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:41:51.038236+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GBA: Changed publications: 12838552",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:41:11.571916+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GBA were changed from GAUCHER DISEASE TYPE 1; GAUCHER DISEASE TYPE 3C; GAUCHER DISEASE PERINATAL LETHAL; GAUCHER DISEASE TYPE 3; GAUCHER DISEASE TYPE 2; GAUCHER DISEASE to Gaucher disease, perinatal lethal, MIM# 608013",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:40:54.987282+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:40:51.370548+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GBA: Added comment: Multiple reports of perinatal lethal cases. IUGR, hydrops, polyhydramnios, decreased fetal movements.; Changed rating: GREEN; Changed phenotypes: Gaucher disease, perinatal lethal, MIM# 608013",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:38:41.162381+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATA6 as ready",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:38:41.151712+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata6 has been classified as Green List (High Evidence).",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:38:36.645470+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GATA6 were changed from ATRIOVENTRICULAR SEPTAL DEFECT 5; PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS; ATRIAL SEPTAL DEFECT 9 to Pancreatic agenesis and congenital heart defects, MIM# 600001",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:38:20.971176+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GATA6 were set to ",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:38:09.951706+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GATA6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:37:33.887367+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATA2 as ready",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:37:33.877951+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:37:30.258057+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GATA2 were changed from EMBERGER SYNDROME to Emberger syndrome, MIM# 614038",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:37:18.160423+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GATA2 were set to ",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:37:06.407873+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GATA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:36:39.223169+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GATA2 as Amber List (moderate evidence)",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:36:39.211573+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:35:01.881041+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GALC as ready",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:35:01.871008+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galc has been classified as Red List (Low Evidence).",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:34:54.830309+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GALC as Red List (low evidence)",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:34:54.820554+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galc has been classified as Red List (Low Evidence).",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:34:42.519545+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Cannot find reports of hydrops with this specific lysosomal storage disorder. \nSources: Expert list; to: Cannot find reports of hydrops with this specific lysosomal storage disorder. \r\n\r\nProgressive post-natal course.\r\n\r\nSources: Expert list",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:33:16.200739+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: G6PC3 as ready",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:33:16.191503+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: g6pc3 has been classified as Green List (High Evidence).",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:33:04.485221+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: G6PC3 were changed from Dursun syndrome; Neutropenia, severe congenital 4, autosomal recessive to Dursun syndrome 612541; Neutropenia, severe congenital 4, autosomal recessive 612541",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:32:53.342297+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1824",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: G6PC3 were set to ",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:32:34.962931+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:32:26.828460+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: G6PC3: Added comment: Congenital heart defects are a feature.; Changed rating: GREEN",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:32:18.304942+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1823",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: KCNE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Jervell and Lange-Nielsen syndrome 2 (MIM#612347), Long QT syndrome 5 (MIM#613695); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:28:43.504618+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10483",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: KCNC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25401298; Phenotypes: Epilepsy, progressive myoclonic 7 (MIM#616187); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNC1",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:27:27.952843+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.13",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: KCNC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25401298; Phenotypes: Epilepsy, progressive myoclonic 7 (MIM#616187); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNC1",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:25:19.260422+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1823",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: KCNC1: Rating: RED; Mode of pathogenicity: None; Publications: 25401298; Phenotypes: Epilepsy, progressive myoclonic 7 (MIM#616187); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNC1",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:09:05.007767+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1823",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: KBTBD13: Rating: RED; Mode of pathogenicity: None; Publications: 11731279, 21104864; Phenotypes: Nemaline myopathy 6, autosomal dominant (MIM#609273); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KBTBD13",
"entity_type": "gene"
},
{
"created": "2022-01-05T12:06:21.834798+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1823",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: JAK3: Rating: RED; Mode of pathogenicity: None; Publications: 7659163, 7481768; Phenotypes: SCID, autosomal recessive, T-negative/B-positive type (MIM#600802); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "JAK3",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:53:17.356119+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FYCO1 as ready",
"entity_name": "FYCO1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:53:17.338660+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fyco1 has been classified as Green List (High Evidence).",
"entity_name": "FYCO1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:53:12.635224+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FYCO1 were changed from Cataract 18 (MIN#610019) AR to Cataract 18 (MIM#610019) AR",
"entity_name": "FYCO1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:53:01.184224+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1822",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FYCO1 were changed from CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2 to Cataract 18 (MIN#610019) AR",
"entity_name": "FYCO1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:52:37.686472+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FYCO1 were set to ",
"entity_name": "FYCO1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:52:02.728238+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FTL as ready",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:52:02.715935+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ftl has been classified as Green List (High Evidence).",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:51:57.756817+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FTL were changed from HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME to Hyperferritinemia-cataract syndrome, MIM# 600886",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:51:45.305436+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1819",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FTL was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:51:32.163081+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:51:27.397644+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FTL: Added comment: Cataracts are congenital in some and may be detectable antenatally.; Changed rating: GREEN; Changed phenotypes: Hyperferritinemia-cataract syndrome, MIM# 600886; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:50:59.669139+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10483",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: DPF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29429572, 31706665; Phenotypes: Coffin-Siris syndrome 7 MIM#618027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "DPF2",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:50:56.594357+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4404",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: DPF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29429572, 31706665; Phenotypes: Coffin-Siris syndrome 7 MIM#618027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "DPF2",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:50:46.948815+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1818",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: DPF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29429572, 31706665; Phenotypes: Coffin-Siris syndrome 7 MIM#618027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "DPF2",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:50:17.517852+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FRMD4A as ready",
"entity_name": "FRMD4A",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:50:17.507582+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: frmd4a has been classified as Amber List (Moderate Evidence).",
"entity_name": "FRMD4A",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:50:13.127391+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FRMD4A were changed from ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 to Intellectual disability; microcephaly; Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, MIM# 616819",
"entity_name": "FRMD4A",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:49:24.324921+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FRMD4A as Amber List (moderate evidence)",
"entity_name": "FRMD4A",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:49:24.314370+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: frmd4a has been classified as Amber List (Moderate Evidence).",
"entity_name": "FRMD4A",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:48:26.351258+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FREM1 as ready",
"entity_name": "FREM1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:48:26.337434+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: frem1 has been classified as Green List (High Evidence).",
"entity_name": "FREM1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:48:16.452783+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FREM1 were changed from to Manitoba oculotrichoanal syndrome 248450; Bifid nose with or without anorectal and renal anomalies, MIM# 608980; Trigonocephaly 2, MIM# 614485",
"entity_name": "FREM1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:47:57.257908+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FREM1 were set to ",
"entity_name": "FREM1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:47:34.879657+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FREM1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "FREM1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:47:11.035621+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FREM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32016392, 21931569, 21507892, 19732862, 20301721, 28111185; Phenotypes: Manitoba oculotrichoanal syndrome 248450, Bifid nose with or without anorectal and renal anomalies, MIM# 608980, Trigonocephaly 2, MIM# 614485; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "FREM1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:46:31.022751+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FREM1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "FREM1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:45:49.856548+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FREM1 as ready",
"entity_name": "FREM1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:45:49.845046+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: frem1 has been classified as Green List (High Evidence).",
"entity_name": "FREM1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:45:43.700291+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FREM1 were changed from MANITOBA OCULOTRICHOANAL SYNDROME to Manitoba oculotrichoanal syndrome 248450; Bifid nose with or without anorectal and renal anomalies, MIM# 608980; Trigonocephaly 2, MIM# 614485",
"entity_name": "FREM1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:45:29.339630+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FREM1 were set to ",
"entity_name": "FREM1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:45:07.123520+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single individual reported with compound het variants in this gene, supportive mouse model. Individual did not have features of BNAR/MOTA syndromes. \nSources: Literature; to: Single individual reported with compound het variants in this gene and CDH, supportive mouse model. Individual did not have features of BNAR/MOTA syndromes. \r\nSources: Literature",
"entity_name": "FREM1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:44:53.262618+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FREM1: Added comment: Bi-allelic variants are associated with multiple congenital anomaly syndromes (MOTA and BNAR), which likely represent a spectrum.\r\n\r\nThree families reported with trigonocephaly and single missense variants.; Changed rating: GREEN; Changed publications: 32016392, 21931569, 21507892, 19732862, 20301721, 28111185; Changed phenotypes: Manitoba oculotrichoanal syndrome 248450, Bifid nose with or without anorectal and renal anomalies, MIM# 608980, Trigonocephaly 2, MIM# 614485",
"entity_name": "FREM1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:43:31.436258+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1813",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: JAGN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25129144; Phenotypes: Neutropenia, severe congenital, 6, autosomal recessive (MIM#616022); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:37:28.135619+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FRAS1 as ready",
"entity_name": "FRAS1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:37:28.124347+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fras1 has been classified as Green List (High Evidence).",
"entity_name": "FRAS1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:37:19.282577+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FRAS1 were changed from to Fraser syndrome 1, MIM#219000",
"entity_name": "FRAS1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:37:00.630969+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FRAS1 were set to ",
"entity_name": "FRAS1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:36:41.058593+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FRAS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FRAS1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:36:20.605246+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FRAS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12766769, 18671281; Phenotypes: Fraser syndrome 1, MIM#219000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FRAS1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:34:29.826793+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FRAS1 as ready",
"entity_name": "FRAS1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:34:29.808455+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fras1 has been classified as Green List (High Evidence).",
"entity_name": "FRAS1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:34:25.674218+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FRAS1 were changed from FRASER SYNDROME to Fraser syndrome 1, MIM#219000",
"entity_name": "FRAS1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:34:09.549748+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: ID is part of the phenotype; to: Multiple congenital anomalies syndrome.",
"entity_name": "FRAS1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:24:30.407272+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXRED1 as ready",
"entity_name": "FOXRED1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:24:30.398548+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxred1 has been classified as Green List (High Evidence).",
"entity_name": "FOXRED1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:24:15.885343+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXRED1 were changed from to Mitochondrial complex I deficiency, nuclear type 19 MIM#618241",
"entity_name": "FOXRED1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:23:46.644230+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXRED1 were set to ",
"entity_name": "FOXRED1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:23:23.303824+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10477",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: DNAJC19: Rating: GREEN; Mode of pathogenicity: None; Publications: 16055927, 17244376, 22797137; Phenotypes: 3-methylglutaconic aciduria, type V MIM#610198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DNAJC19",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:22:23.181752+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXRED1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FOXRED1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:21:42.747609+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOXRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33613441; Phenotypes: Mitochondrial complex I deficiency, nuclear type 19 MIM#618241; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FOXRED1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:21:23.739959+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.218",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SGPL1 were changed from Nephrotic syndrome, type 14, MIM#\t617575 to Sphingosine Phosphate Lyase Insufficiency Syndrome; Nephrotic syndrome, type 14, MIM#617575",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:21:18.940402+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1812",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SGPL1 as ready",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:21:18.930242+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1812",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sgpl1 has been classified as Green List (High Evidence).",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:21:10.303107+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.6",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SGPL1 as ready",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:21:10.282661+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.6",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sgpl1 has been classified as Green List (High Evidence).",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:21:01.597049+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1812",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SGPL1 were changed from Nephrotic syndrome type 14, 617575; Fetal hydrops to Sphingosine Phosphate Lyase Insufficiency Syndrome; Nephrotic syndrome, type 14, MIM#617575",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:20:54.480127+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.6",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SGPL1 as Green List (high evidence)",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:20:54.470045+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.6",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sgpl1 has been classified as Green List (High Evidence).",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:20:28.845397+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXRED1 as ready",
"entity_name": "FOXRED1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:20:28.828512+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxred1 has been classified as Green List (High Evidence).",
"entity_name": "FOXRED1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:20:27.478318+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1811",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SGPL1 were set to ",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:20:16.621541+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.217",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SGPL1 were set to 28165343",
"entity_name": "SGPL1",
"entity_type": "gene"
}
]
}