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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=537",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=535",
"results": [
{
"created": "2023-10-15T18:11:41.521212+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MBTPS2 as Green List (high evidence)",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:11:41.499418+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mbtps2 has been classified as Green List (High Evidence).",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:11:14.128601+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CR2 were set to 22035880; 26325596",
"entity_name": "CR2",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:10:48.116671+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CR2 as Green List (high evidence)",
"entity_name": "CR2",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:10:48.104284+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cr2 has been classified as Green List (High Evidence).",
"entity_name": "CR2",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:10:23.160492+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CR2: Added comment: PMID:28499783 reported two siblings from consanguineous parents, both with a homozygous frameshift variant in CR2 and with recurrent respiratory infections and hypogammaglobulinemia.; Changed rating: GREEN; Changed publications: 22035880, 26325596, 28499783",
"entity_name": "CR2",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:09:49.847123+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CR2 were set to 22035880; 26325596",
"entity_name": "CR2",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:09:22.804636+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CR2 as Green List (high evidence)",
"entity_name": "CR2",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:09:22.793179+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cr2 has been classified as Green List (High Evidence).",
"entity_name": "CR2",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:09:00.572617+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CR2: Added comment: PMID:28499783 reported two siblings from consanguineous parents, both with a homozygous frameshift variant in CR2 and with recurrent respiratory infections and hypogammaglobulinaemia.; Changed rating: GREEN; Changed publications: 22035880, 26325596, 28499783",
"entity_name": "CR2",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:01:52.949442+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HMOX1 were set to 21088618; 9884342; 20844238",
"entity_name": "HMOX1",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:01:30.574052+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HMOX1 as Green List (high evidence)",
"entity_name": "HMOX1",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:01:30.565927+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmox1 has been classified as Green List (High Evidence).",
"entity_name": "HMOX1",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:01:12.824718+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HMOX1: Added comment: PMID:33066778 provides a third case in support of promoting HMOX1 to green rating. This third case is a boy born to nonconsanguineous parents who presented with early onset asplenia, recurrent infections, and associated flares with bone marrow histiocyte activation with worsening interstitial lung disease and joint pain. This boy harboured compound heterozygous variants (p.L89Sfs*24 and p.Ala88Profs*51).; Changed rating: GREEN; Changed publications: 21088618, 9884342, 20844238, 33066778",
"entity_name": "HMOX1",
"entity_type": "gene"
},
{
"created": "2023-10-15T18:00:29.519393+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HMOX1 were set to 21088618; 9884342; 20844238",
"entity_name": "HMOX1",
"entity_type": "gene"
},
{
"created": "2023-10-15T17:57:19.586266+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HMOX1 as Green List (high evidence)",
"entity_name": "HMOX1",
"entity_type": "gene"
},
{
"created": "2023-10-15T17:57:19.575517+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmox1 has been classified as Green List (High Evidence).",
"entity_name": "HMOX1",
"entity_type": "gene"
},
{
"created": "2023-10-15T17:52:49.156574+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HYOU1 as Green List (high evidence)",
"entity_name": "HYOU1",
"entity_type": "gene"
},
{
"created": "2023-10-15T17:52:49.145345+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hyou1 has been classified as Green List (High Evidence).",
"entity_name": "HYOU1",
"entity_type": "gene"
},
{
"created": "2023-10-15T17:52:33.411169+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID:35549617 reported another case with homozgyous variant (p.Arg486Cys) and anemia, thrombocytopenia and severe panleukopenia and immunodeficiency.; to: PMID:35549617 reported another case with homozgyous variant (p.Arg486Cys) and anaemia, thrombocytopenia and severe panleukopenia and immunodeficiency.",
"entity_name": "HYOU1",
"entity_type": "gene"
},
{
"created": "2023-10-15T17:52:21.429875+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HYOU1: Added comment: PMID:35549617 reported another case with homozgyous variant (p.Arg486Cys) and anemia, thrombocytopenia and severe panleukopenia and immunodeficiency.; Changed rating: GREEN; Changed publications: 27913302, 35822684, 35549617",
"entity_name": "HYOU1",
"entity_type": "gene"
},
{
"created": "2023-10-15T17:49:10.037729+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HYOU1 as Green List (high evidence)",
"entity_name": "HYOU1",
"entity_type": "gene"
},
{
"created": "2023-10-15T17:49:10.025814+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hyou1 has been classified as Green List (High Evidence).",
"entity_name": "HYOU1",
"entity_type": "gene"
},
{
"created": "2023-10-14T18:27:37.545921+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNH5 were changed from Neurodevelopmental disorder MONDO#0700092, KCNH5-related to Developmental and epileptic encephalopathy 112, MIM# 620537",
"entity_name": "KCNH5",
"entity_type": "gene"
},
{
"created": "2023-10-14T18:27:05.571903+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNH5 were set to https://www.medrxiv.org/content/10.1101/2022.04.26.22274147v1",
"entity_name": "KCNH5",
"entity_type": "gene"
},
{
"created": "2023-10-14T18:26:24.171779+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 36307226; Phenotypes: Developmental and epileptic encephalopathy 112, MIM# 620537; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNH5",
"entity_type": "gene"
},
{
"created": "2023-10-14T18:25:42.406506+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNH5 were changed from Neurodevelopmental disorder MONDO#0700092, KCNH5-related to Developmental and epileptic encephalopathy 112, MIM# 620537",
"entity_name": "KCNH5",
"entity_type": "gene"
},
{
"created": "2023-10-14T18:25:04.204502+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1942",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNH5 were set to https://www.medrxiv.org/content/10.1101/2022.04.26.22274147v1",
"entity_name": "KCNH5",
"entity_type": "gene"
},
{
"created": "2023-10-14T18:24:22.914154+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 36307226; Phenotypes: Developmental and epileptic encephalopathy 112, MIM# 620537; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNH5",
"entity_type": "gene"
},
{
"created": "2023-10-14T18:23:42.432331+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KCNH5: Changed phenotypes: Developmental and epileptic encephalopathy 112, MIM# 620537",
"entity_name": "KCNH5",
"entity_type": "gene"
},
{
"created": "2023-10-14T18:23:22.918109+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNH5: Rating: GREEN; Mode of pathogenicity: None; Publications: 36307226; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNH5",
"entity_type": "gene"
},
{
"created": "2023-10-14T18:22:55.411827+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNH5 were changed from Neurodevelopmental disorder MONDO#0700092, KCNH5-related to Developmental and epileptic encephalopathy 112, MIM#\t620537",
"entity_name": "KCNH5",
"entity_type": "gene"
},
{
"created": "2023-10-14T18:22:09.967668+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERLIN2 were changed from Spastic paraplegia 18, autosomal recessive, MIM#\t611225; Spastic paraplegia, dominant to Spastic paraplegia 18, autosomal recessive, MIM# 611225; Spastic paraplegia 18A, autosomal dominant, MIM# 620512",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2023-10-14T18:21:42.671285+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ERLIN2: Changed phenotypes: Spastic paraplegia 18, autosomal recessive, MIM# 611225, Spastic paraplegia 18A, autosomal dominant, MIM# 620512",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2023-10-14T18:21:20.100496+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERLIN2 were changed from hereditary spastic paraplegia 18 MONDO:0012639; Spastic paraplegia 18A, autosomal dominant, MIM# 620512 to Spastic paraplegia 18, autosomal recessive, MIM# 611225; Spastic paraplegia 18A, autosomal dominant, MIM# 620512",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2023-10-14T18:20:57.315859+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ERLIN2: Changed phenotypes: Spastic paraplegia 18, autosomal recessive, MIM# 611225, Spastic paraplegia 18A, autosomal dominant, MIM# 620512; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2023-10-14T18:19:42.849226+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERLIN2 were changed from hereditary spastic paraplegia 18 MONDO:0012639 to hereditary spastic paraplegia 18 MONDO:0012639; Spastic paraplegia 18A, autosomal dominant, MIM# 620512",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2023-10-14T18:19:16.615953+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERLIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 18A, autosomal dominant, MIM# 620512; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ERLIN2",
"entity_type": "gene"
},
{
"created": "2023-10-14T04:28:34.664527+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.18",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: HYOU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35549617; Phenotypes: ?Immunodeficiency 59 and hypoglycemia, OMIM:233600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HYOU1",
"entity_type": "gene"
},
{
"created": "2023-10-14T04:09:45.874191+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.130",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: HMOX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33066778; Phenotypes: Heme oxygenase-1 deficiency, OMIM:614034; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HMOX1",
"entity_type": "gene"
},
{
"created": "2023-10-12T11:45:14.010338+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.68",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "gene: MBTPS2 was added\ngene: MBTPS2 was added to Hair disorders. Sources: Other\nMode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: MBTPS2 were set to 21600032\nPhenotypes for gene: MBTPS2 were set to IFAP syndrome with or without BRESHECK syndrome\tMONDO:0100213\nPenetrance for gene: MBTPS2 were set to unknown\nReview for gene: MBTPS2 was set to GREEN\nAdded comment: This is a well established hair disorder gene. \nSources: Other",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2023-10-12T11:22:25.179455+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1283",
"user_name": "Natalie Tan",
"item_type": "entity",
"text": "changed review comment from: Emerging association in individuals with biallelic variants of a combined phenotype of primary ovarian insufficiency and a Lynch-like syndrome/early-onset colorectal cancer (PMID: 26806154, 34556653). Monoallelic carriers have also been reported with a Lynch-like syndrome (32841224). Association of primary ovarian insufficiency with other malignancies is less clear (32613604, 34556653). See PMID 37378315 for review of literature to April 2023.; to: Emerging association in individuals with biallelic variants of a combined phenotype of primary ovarian insufficiency and a Lynch-like syndrome/early-onset colorectal cancer (PMID: 26806154, 34556653). Monoallelic carriers have also been reported with a Lynch-like syndrome (32841224). Association of primary ovarian insufficiency with other malignancies is less clear (32613604, 34556653). See PMID 37378315 for review of literature to April 2023.",
"entity_name": "MCM9",
"entity_type": "gene"
},
{
"created": "2023-10-12T11:19:47.994426+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1283",
"user_name": "Natalie Tan",
"item_type": "entity",
"text": "reviewed gene: MCM9: Rating: GREEN; Mode of pathogenicity: None; Publications: (PMID: 26806154, 34556653, 32841224, 32613604, 37378315); Phenotypes: Primary ovarian insufficiency, Lynch-like syndrome/colorectal cancer; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MCM9",
"entity_type": "gene"
},
{
"created": "2023-10-12T09:59:45.945963+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.44",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "reviewed gene: IRF4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36662884; Phenotypes: Combined Immune deficiency; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2023-10-11T12:24:44.946545+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) to Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535",
"entity_name": "U2AF2",
"entity_type": "gene"
},
{
"created": "2023-10-11T12:24:17.931919+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) to Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535",
"entity_name": "U2AF2",
"entity_type": "gene"
},
{
"created": "2023-10-11T12:23:33.813890+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) to Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535",
"entity_name": "U2AF2",
"entity_type": "gene"
},
{
"created": "2023-10-11T12:22:59.027437+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) to Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535",
"entity_name": "U2AF2",
"entity_type": "gene"
},
{
"created": "2023-10-11T12:22:05.251367+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder MONDO:0700092, U2AF2-related to Developmental delay, dysmorphic facies, and brain anomalies, MIM#\t620535",
"entity_name": "U2AF2",
"entity_type": "gene"
},
{
"created": "2023-10-09T18:38:10.331171+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EYA3 were changed from Oculo-auriculo-vertebral spectrum (OAVS) to Oculo-auriculo-vertebral spectrum (OAVS), MONDO:0015397, EYA3-related",
"entity_name": "EYA3",
"entity_type": "gene"
},
{
"created": "2023-10-09T18:26:41.214727+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ETS1 were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, ETS1-related",
"entity_name": "ETS1",
"entity_type": "gene"
},
{
"created": "2023-10-09T18:25:58.661339+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ETS1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, ETS1-related",
"entity_name": "ETS1",
"entity_type": "gene"
},
{
"created": "2023-10-09T18:23:13.920647+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ETS1 were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, ETS1-related",
"entity_name": "ETS1",
"entity_type": "gene"
},
{
"created": "2023-10-09T18:22:51.882954+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ETS1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, ETS1-related",
"entity_name": "ETS1",
"entity_type": "gene"
},
{
"created": "2023-10-09T18:17:41.024603+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERBIN were changed from Recurrent respiratory infections; Susceptibility to S.aureus; Eczema; Hyperextensible joints; Scoliosis; Arterial dilatation in some to Combined immunodeficiency, MONDO:0015131, ERBIN-related; Recurrent respiratory infections; Susceptibility to S.aureus; Eczema; Hyperextensible joints; Scoliosis; Arterial dilatation in some",
"entity_name": "ERBIN",
"entity_type": "gene"
},
{
"created": "2023-10-09T18:17:08.464505+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ERBIN: Changed phenotypes: Combined immunodeficiency, MONDO:0015131, ERBIN-related, Recurrent respiratory infections, Susceptibility to S.aureus, Eczema, Hyperextensible joints, Scoliosis, Arterial dilatation in some",
"entity_name": "ERBIN",
"entity_type": "gene"
},
{
"created": "2023-10-09T18:16:49.001129+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERBIN were changed from Recurrent respiratory infections; Susceptibility to S.aureus; Eczema; Hyperextensible joints; Scoliosis; Arterial dilatation in some to Combined immunodeficiency, MONDO:0015131, ERBIN-related; Recurrent respiratory infections; Susceptibility to S.aureus; Eczema; Hyperextensible joints; Scoliosis; Arterial dilatation in some",
"entity_name": "ERBIN",
"entity_type": "gene"
},
{
"created": "2023-10-09T18:16:29.179706+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ERBIN: Changed phenotypes: Combined immunodeficiency, MONDO:0015131, ERBIN-related, Recurrent respiratory infections, Susceptibility to S.aureus, Eczema, Hyperextensible joints, Scoliosis, Arterial dilatation in some",
"entity_name": "ERBIN",
"entity_type": "gene"
},
{
"created": "2023-10-08T18:32:10.011287+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EPHX1 were changed from Lipoatrophic diabetes to Hereditary lipodystrophy, MONDO:0020087, EPHX1-related",
"entity_name": "EPHX1",
"entity_type": "gene"
},
{
"created": "2023-10-08T18:32:00.653653+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EPHX1: Changed phenotypes: Hereditary lipodystrophy, MONDO:0020087, EPHX1-related",
"entity_name": "EPHX1",
"entity_type": "gene"
},
{
"created": "2023-10-08T18:31:41.615761+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EPHX1 were changed from Lipoatrophic diabetes to Hereditary lipodystrophy, MONDO:0020087, EPHX1-related",
"entity_name": "EPHX1",
"entity_type": "gene"
},
{
"created": "2023-10-08T18:31:21.251000+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EPHX1: Changed phenotypes: Hereditary lipodystrophy, MONDO:0020087, EPHX1-related",
"entity_name": "EPHX1",
"entity_type": "gene"
},
{
"created": "2023-10-08T18:31:04.305160+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EPHX1 were changed from Lipoatrophic diabetes to Hereditary lipodystrophy, MONDO:0020087, EPHX1-related",
"entity_name": "EPHX1",
"entity_type": "gene"
},
{
"created": "2023-10-08T18:30:35.320202+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EPHX1: Changed phenotypes: Hereditary lipodystrophy, MONDO:0020087, EPHX1-related",
"entity_name": "EPHX1",
"entity_type": "gene"
},
{
"created": "2023-10-08T18:22:48.990146+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EPHA7 were changed from Intellectual disability to Neurodevelopmental disorder MONDO:0700092,EPHA7-related",
"entity_name": "EPHA7",
"entity_type": "gene"
},
{
"created": "2023-10-08T18:22:14.041337+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EPHA7: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092,EPHA7-related",
"entity_name": "EPHA7",
"entity_type": "gene"
},
{
"created": "2023-10-08T18:21:48.866679+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EPHA7 were changed from Intellectual disability to Neurodevelopmental disorder MONDO:0700092,EPHA7-related",
"entity_name": "EPHA7",
"entity_type": "gene"
},
{
"created": "2023-10-08T18:21:29.589970+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EPHA7: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092,EPHA7-related",
"entity_name": "EPHA7",
"entity_type": "gene"
},
{
"created": "2023-10-08T18:17:27.207956+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EOMES were changed from Microcephaly to Microcephaly, MONDO:0001149, EOMES-related",
"entity_name": "EOMES",
"entity_type": "gene"
},
{
"created": "2023-10-08T18:16:57.255228+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EOMES: Changed phenotypes: Microcephaly, MONDO:0001149, EOMES-related",
"entity_name": "EOMES",
"entity_type": "gene"
},
{
"created": "2023-10-08T18:16:31.038058+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EOMES were changed from Microcephaly to Microcephaly, MONDO:0001149, EOMES-related",
"entity_name": "EOMES",
"entity_type": "gene"
},
{
"created": "2023-10-08T18:16:10.586530+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EOMES: Changed phenotypes: Microcephaly, MONDO:0001149, EOMES-related",
"entity_name": "EOMES",
"entity_type": "gene"
},
{
"created": "2023-10-08T18:13:19.739432+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ENO1 were changed from Polymicrogyria; microcephaly to Polymicrogyria, MONDO:0000087, ENO1-related",
"entity_name": "ENO1",
"entity_type": "gene"
},
{
"created": "2023-10-08T18:12:46.886472+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ENO1 were changed from Polymicrogyria to Polymicrogyria, MONDO:0000087, ENO1-related",
"entity_name": "ENO1",
"entity_type": "gene"
},
{
"created": "2023-10-08T18:12:22.158572+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ENO1 were changed from Polymicrogyria to Polymicrogyria, MONDO:0000087, ENO1-related",
"entity_name": "ENO1",
"entity_type": "gene"
},
{
"created": "2023-10-08T18:07:35.544839+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ELMOD1 were changed from Intellectual disability to Neurodevelopmental disorder MONDO:0700092,ELMOD1-related",
"entity_name": "ELMOD1",
"entity_type": "gene"
},
{
"created": "2023-10-08T18:07:01.287897+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ELMOD1: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092,ELMOD1-related",
"entity_name": "ELMOD1",
"entity_type": "gene"
},
{
"created": "2023-10-08T18:06:40.325958+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ELMOD1 were changed from Intellectual disability to Neurodevelopmental disorder MONDO:0700092,ELMOD1-related",
"entity_name": "ELMOD1",
"entity_type": "gene"
},
{
"created": "2023-10-08T18:06:20.367496+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ELMOD1: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092,ELMOD1-related",
"entity_name": "ELMOD1",
"entity_type": "gene"
},
{
"created": "2023-10-08T18:04:43.018313+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF4ENIF1 as ready",
"entity_name": "EIF4ENIF1",
"entity_type": "gene"
},
{
"created": "2023-10-08T18:04:43.005924+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif4enif1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EIF4ENIF1",
"entity_type": "gene"
},
{
"created": "2023-10-08T18:04:39.980078+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF4ENIF1 were changed from Primary ovarian insufficiency to Primary ovarian insufficiency, MONDO:0005387, EIF4ENIF1-related",
"entity_name": "EIF4ENIF1",
"entity_type": "gene"
},
{
"created": "2023-10-08T18:04:18.936948+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF4ENIF1 were changed from Primary ovarian insufficiency to Primary ovarian insufficiency, MONDO:0005387, EIF4ENIF1-related",
"entity_name": "EIF4ENIF1",
"entity_type": "gene"
},
{
"created": "2023-10-08T17:54:13.806203+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EHBP1L1 were changed from Non-immune hydrops fetalis to Non-immune hydrops fetalis, MONDO:0015193, EHBP1l1-related",
"entity_name": "EHBP1L1",
"entity_type": "gene"
},
{
"created": "2023-10-08T17:53:49.086374+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EHBP1L1 were changed from Non-immune hydrops fetalis to Non-immune hydrops fetalis, MONDO:0015193, EHBP1l1-related",
"entity_name": "EHBP1L1",
"entity_type": "gene"
},
{
"created": "2023-10-08T17:51:03.457651+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EEF1D were changed from Intellectual disability to Neurodevelopmental disorder MONDO:0700092, EEF1D-related",
"entity_name": "EEF1D",
"entity_type": "gene"
},
{
"created": "2023-10-08T17:50:28.632520+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EEF1D: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, EEF1D-related",
"entity_name": "EEF1D",
"entity_type": "gene"
},
{
"created": "2023-10-08T17:50:02.844573+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EEF1D were changed from Intellectual disability to Neurodevelopmental disorder MONDO:0700092, EEF1D-related",
"entity_name": "EEF1D",
"entity_type": "gene"
},
{
"created": "2023-10-08T17:49:43.415427+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EEF1D: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, EEF1D-related",
"entity_name": "EEF1D",
"entity_type": "gene"
},
{
"created": "2023-10-08T17:47:16.735564+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DYNC1I1 were changed from Split-hand/split-foot malformation (SHFM) to Split-hand/split-foot malformation (SHFM) MONDO:0016576, DYNC1I1-related",
"entity_name": "DYNC1I1",
"entity_type": "gene"
},
{
"created": "2023-10-08T17:46:58.818176+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DYNC1I1 were changed from Split-hand/split-foot malformation (SHFM) to Split-hand/split-foot malformation (SHFM) MONDO:0016576, DYNC1I1-related",
"entity_name": "DYNC1I1",
"entity_type": "gene"
},
{
"created": "2023-10-08T17:46:36.068249+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DYNC1I1 were changed from Split-hand/split-foot malformation (SHFM) to Split-hand/split-foot malformation (SHFM) MONDO:0016576, DYNC1I1-related",
"entity_name": "DYNC1I1",
"entity_type": "gene"
},
{
"created": "2023-10-08T17:43:39.030843+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DSCR3 were changed from Intellectual disability, no OMIM # yet to Neurodevelopmental disorder (MONDO:0700092), DSCR3-related",
"entity_name": "DSCR3",
"entity_type": "gene"
},
{
"created": "2023-10-08T17:42:53.953737+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DSCR3 were changed from Intellectual disability, no OMIM # yet to Neurodevelopmental disorder (MONDO:0700092), DSCR3-related",
"entity_name": "DSCR3",
"entity_type": "gene"
},
{
"created": "2023-10-08T17:42:35.117004+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DSCR3: Changed phenotypes: Neurodevelopmental disorder (MONDO:0700092), DSCR3-related",
"entity_name": "DSCR3",
"entity_type": "gene"
},
{
"created": "2023-10-08T17:08:59.646167+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL18A1 as ready",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2023-10-08T17:08:59.633371+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col18a1 has been classified as Green List (High Evidence).",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2023-10-08T17:08:56.146972+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL18A1 were changed from to Knobloch syndrome, type 1, MIM# 267750",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2023-10-08T17:08:21.723868+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL18A1 were set to ",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2023-10-08T17:07:43.187957+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL18A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL18A1",
"entity_type": "gene"
}
]
}