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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1043",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1041",
"results": [
{
"created": "2022-01-17T19:03:56.715088+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Many unrelated patients reported, including 24 families reported in Torti 2019 (PMID:30739909). Most variants are protein-truncating.; to: Many unrelated patients reported, including 24 families reported in Torti 2019 (PMID:30739909). Most variants are protein-truncating.\r\n\r\nTypically presents post-natally.",
"entity_name": "TCF20",
"entity_type": "gene"
},
{
"created": "2022-01-17T19:03:45.801656+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TCF20: Changed rating: RED",
"entity_name": "TCF20",
"entity_type": "gene"
},
{
"created": "2022-01-17T19:03:02.006811+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBX22 as Red List (low evidence)",
"entity_name": "TBX22",
"entity_type": "gene"
},
{
"created": "2022-01-17T19:03:01.997534+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx22 has been classified as Red List (Low Evidence).",
"entity_name": "TBX22",
"entity_type": "gene"
},
{
"created": "2022-01-17T19:02:34.320317+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBX22 as Red List (low evidence)",
"entity_name": "TBX22",
"entity_type": "gene"
},
{
"created": "2022-01-17T19:02:34.302321+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx22 has been classified as Red List (Low Evidence).",
"entity_name": "TBX22",
"entity_type": "gene"
},
{
"created": "2022-01-17T19:02:19.164374+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBX22 as ready",
"entity_name": "TBX22",
"entity_type": "gene"
},
{
"created": "2022-01-17T19:02:19.151132+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx22 has been classified as Green List (High Evidence).",
"entity_name": "TBX22",
"entity_type": "gene"
},
{
"created": "2022-01-17T19:02:07.454480+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBX22: Rating: RED; Mode of pathogenicity: None; Publications: 11559848, 12374769, 14729838, 17868388, 22784330, 22784330; Phenotypes: Cleft palate with ankyloglossia, MIM# 303400, Abruzzo-Erickson syndrome, MIM# 302905; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TBX22",
"entity_type": "gene"
},
{
"created": "2022-01-17T19:01:45.936371+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBX22 were changed from to Cleft palate with ankyloglossia, MIM# 303400; Abruzzo-Erickson syndrome, MIM# 302905",
"entity_name": "TBX22",
"entity_type": "gene"
},
{
"created": "2022-01-17T19:01:07.037206+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBX22 were set to ",
"entity_name": "TBX22",
"entity_type": "gene"
},
{
"created": "2022-01-17T19:00:43.323378+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBX22 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TBX22",
"entity_type": "gene"
},
{
"created": "2022-01-17T19:00:21.828692+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBX22: Rating: GREEN; Mode of pathogenicity: None; Publications: 11559848, 12374769, 14729838, 17868388, 22784330, 22784330; Phenotypes: Cleft palate with ankyloglossia, MIM# 303400, Abruzzo-Erickson syndrome, MIM# 302905; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TBX22",
"entity_type": "gene"
},
{
"created": "2022-01-17T18:59:06.825667+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBX22 as ready",
"entity_name": "TBX22",
"entity_type": "gene"
},
{
"created": "2022-01-17T18:59:06.815768+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx22 has been classified as Green List (High Evidence).",
"entity_name": "TBX22",
"entity_type": "gene"
},
{
"created": "2022-01-17T18:59:02.607148+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBX22 were changed from CLEFT PALATE, X-LINKED; ?Abruzzo-Erickson syndrome, 302905 to Cleft palate with ankyloglossia, MIM# 303400; Abruzzo-Erickson syndrome, MIM# 302905",
"entity_name": "TBX22",
"entity_type": "gene"
},
{
"created": "2022-01-17T18:58:50.425715+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBX22 were set to 22784330",
"entity_name": "TBX22",
"entity_type": "gene"
},
{
"created": "2022-01-17T18:58:37.763868+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBX22 as Green List (high evidence)",
"entity_name": "TBX22",
"entity_type": "gene"
},
{
"created": "2022-01-17T18:58:37.745862+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx22 has been classified as Green List (High Evidence).",
"entity_name": "TBX22",
"entity_type": "gene"
},
{
"created": "2022-01-17T18:58:25.425843+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "TBX22",
"entity_type": "gene"
},
{
"created": "2022-01-17T18:58:22.023508+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TBX22: Added comment: More than 10 families reported with cleft palate/ankyloglossia and variants in this gene.\r\n\r\nSingle family reported with Abruzzo-Erickson syndrome, a syndromic form of cleft palate.; Changed publications: 11559848, 12374769, 14729838, 17868388, 22784330, 22784330",
"entity_name": "TBX22",
"entity_type": "gene"
},
{
"created": "2022-01-17T18:55:37.330071+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TBX22: Changed rating: GREEN; Changed phenotypes: Cleft palate with ankyloglossia, MIM# 303400, Abruzzo-Erickson syndrome, MIM# 302905; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TBX22",
"entity_type": "gene"
},
{
"created": "2022-01-17T18:54:22.927711+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBR1 as ready",
"entity_name": "TBR1",
"entity_type": "gene"
},
{
"created": "2022-01-17T18:54:22.918039+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbr1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBR1",
"entity_type": "gene"
},
{
"created": "2022-01-17T18:54:18.674054+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBR1 were changed from AUTISM to Intellectual developmental disorder with autism and speech delay, MIM# 606053",
"entity_name": "TBR1",
"entity_type": "gene"
},
{
"created": "2022-01-17T18:54:04.244057+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBR1 were set to ",
"entity_name": "TBR1",
"entity_type": "gene"
},
{
"created": "2022-01-17T18:53:53.386249+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBR1",
"entity_type": "gene"
},
{
"created": "2022-01-17T18:53:40.158804+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TBR1: Changed rating: AMBER",
"entity_name": "TBR1",
"entity_type": "gene"
},
{
"created": "2022-01-17T18:53:17.516102+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Heterozygous de novo PTC and missense variants reported in at least 7 unrelated patients with impaired intellectual development with autism and speech delay (PMID: 25232744, 30250039).; to: Heterozygous de novo PTC and missense variants reported in at least 7 unrelated patients with impaired intellectual development with autism and speech delay (PMID: 25232744, 30250039).\r\n\r\nPachygyria in some individuals.",
"entity_name": "TBR1",
"entity_type": "gene"
},
{
"created": "2022-01-17T18:52:10.134514+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TAF13 as ready",
"entity_name": "TAF13",
"entity_type": "gene"
},
{
"created": "2022-01-17T18:52:10.106929+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taf13 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TAF13",
"entity_type": "gene"
},
{
"created": "2022-01-17T18:51:58.606460+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAF13 were changed from Autosomal-Recessive Intellectual Disability and Microcephaly to Mental retardation, autosomal recessive 60, MIM# 617432; Microcephaly",
"entity_name": "TAF13",
"entity_type": "gene"
},
{
"created": "2022-01-17T18:51:41.463907+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TAF13 were set to ",
"entity_name": "TAF13",
"entity_type": "gene"
},
{
"created": "2022-01-17T17:23:35.264392+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2352",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: MYPN: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "MYPN",
"entity_type": "gene"
},
{
"created": "2022-01-17T17:23:21.189786+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2352",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: MYPN: Rating: RED; Mode of pathogenicity: None; Publications: 28017374, 28220527, 31133047; Phenotypes: Nemaline myopathy 11, autosomal recessive MIM#617336 AR, cardiomyopathy MIM#615248 AD; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "MYPN",
"entity_type": "gene"
},
{
"created": "2022-01-17T17:20:53.038181+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10640",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: MYPN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 11, autosomal recessive MIM#617336 AR, cardiomyopathy MIM#615248 AD; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MYPN",
"entity_type": "gene"
},
{
"created": "2022-01-17T17:06:45.815982+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2352",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: MYOD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26733463, 30403323, 31260566; Phenotypes: Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies MIM#618975; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MYOD1",
"entity_type": "gene"
},
{
"created": "2022-01-17T16:45:04.715763+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2352",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: MYO18B: Rating: GREEN; Mode of pathogenicity: None; Publications: 25748484, 27858739, 32637634, 32184166, 27879346, 33179433; Phenotypes: Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism MIM#616549; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MYO18B",
"entity_type": "gene"
},
{
"created": "2022-01-17T15:54:27.457574+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2352",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: 2 consanguineous families for AR Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 MIM#249210\r\n\r\nWell established for AD Aortic aneurysm, familial thoracic 7, MIM#600922; to: 2 consanguineous families for AR Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 MIM#249210\r\n1x hom fs and 1x hom splice \r\n\r\nWell established for AD Aortic aneurysm, familial thoracic 7, MIM#600922",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2022-01-17T15:53:55.907446+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2352",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: MYLK: Rating: AMBER; Mode of pathogenicity: None; Publications: 28602422; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 MIM#249210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2022-01-17T15:49:57.558702+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2352",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: MYL9: Rating: GREEN; Mode of pathogenicity: None; Publications: 32621347, 33264186, 29453416, 33031641; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MYL9",
"entity_type": "gene"
},
{
"created": "2022-01-17T15:49:53.207461+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2352",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2022-01-17T15:44:41.634033+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "1.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PDGFRB as Green List (high evidence)",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2022-01-17T15:44:41.617939+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "1.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pdgfrb has been classified as Green List (High Evidence).",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2022-01-17T15:43:20.723699+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2352",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: MYLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 32621347, 33264186, 29453416, 33031641; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2022-01-17T15:41:37.793941+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10640",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "MYL9",
"entity_type": "gene"
},
{
"created": "2022-01-17T15:41:28.014561+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10640",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: MYL9: Added comment: PMID:32621347;\r\n3rd family with non-consanguineous parents and 3 TOPs. 2 were genotyped and found to be hom for the same deletion of exon 4 as reported by PMID: 29453416\r\n\r\nPossibly 4th proband in PMID: 33264186 but specifics including genotype were lacking and overlapping institute/hospital as PMID: 33031641; Changed publications: 32621347, 33264186",
"entity_name": "MYL9",
"entity_type": "gene"
},
{
"created": "2022-01-17T15:38:38.956299+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2352",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "MYL9",
"entity_type": "gene"
},
{
"created": "2022-01-17T15:38:24.437186+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2352",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "MYL9",
"entity_type": "gene"
},
{
"created": "2022-01-17T15:29:39.022061+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10640",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: MYL9: Changed publications: 32621347",
"entity_name": "MYL9",
"entity_type": "gene"
},
{
"created": "2022-01-17T15:25:53.313628+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2352",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: MYL9: Rating: GREEN; Mode of pathogenicity: None; Publications: 29453416, 33031641, 33264186; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MYL9",
"entity_type": "gene"
},
{
"created": "2022-01-17T15:25:17.480381+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10640",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: MYL9: Rating: GREEN; Mode of pathogenicity: None; Publications: 33264186; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome, MIM#619365; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MYL9",
"entity_type": "gene"
},
{
"created": "2022-01-17T15:09:01.407293+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10640",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: MSTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28554942, 28544275, 31604776, 31463572, 31130378, 30684668, 29339779; Phenotypes: Myopathy, mitochondrial, and ataxia, MIM# 617675; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2022-01-17T15:08:33.324294+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2352",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: MSTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28554942, 28544275, 31604776, 31463572, 31130378, 30684668, 29339779; Phenotypes: Myopathy, mitochondrial, and ataxia, MIM# 617675; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2022-01-17T14:45:33.456442+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10640",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: FOXH1: Rating: AMBER; Mode of pathogenicity: None; Publications: 18538293, 19933292, 32003456, 12094232, 16304598; Phenotypes: Congenital heart disease, holoprosencephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXH1",
"entity_type": "gene"
},
{
"created": "2022-01-17T14:07:05.191479+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2352",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: MED13L: Rating: AMBER; Mode of pathogenicity: None; Publications: 33930262, 29959045, 32646507; Phenotypes: Impaired intellectual development and distinctive facial features with or without cardiac defects MIM#616789; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "MED13L",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:59:37.224195+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TACO1 as ready",
"entity_name": "TACO1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:59:37.214422+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taco1 has been classified as Red List (Low Evidence).",
"entity_name": "TACO1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:59:33.806612+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TACO1 were changed from LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY to Mitochondrial complex IV deficiency, OMIM #220110",
"entity_name": "TACO1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:59:15.980889+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TACO1 were set to ",
"entity_name": "TACO1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:59:04.565037+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TACO1 as Red List (low evidence)",
"entity_name": "TACO1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:59:04.553559+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taco1 has been classified as Red List (Low Evidence).",
"entity_name": "TACO1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:58:54.354836+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TACO1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, OMIM #220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TACO1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:33:13.751160+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2349",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: MECR: Rating: RED; Mode of pathogenicity: None; Publications: 27817865, 33401012, 31137067, 31070877; Phenotypes: Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities is an autosomal recessive neurologic disorder characterized by onset of involuntary movements in the first decade of life. Optic atrophy develops around the same time or slightly later. Severity is variable, and some patients lose independent ambulation. Brain imaging shows abnormalities in the basal ganglia. Cognition appears to be unaffected. 7 unrelated families reported.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MECR",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:31:06.421825+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EMX2 as ready",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:31:06.409890+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emx2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:30:58.973861+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EMX2 were changed from Schizencephaly, 269160 to Schizencephaly, MIM# 269160",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:30:47.223473+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EMX2 were set to ",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:30:32.634544+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EMX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:30:21.479320+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: EMX2.",
"entity_name": "EMX2",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:29:41.850433+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EML1 as ready",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:29:41.841176+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eml1 has been classified as Green List (High Evidence).",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:29:37.085033+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EML1 were set to ",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:29:26.385579+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EML1 as Green List (high evidence)",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:29:26.374909+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eml1 has been classified as Green List (High Evidence).",
"entity_name": "EML1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:28:46.877021+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EMG1 as ready",
"entity_name": "EMG1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:28:46.866808+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emg1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EMG1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:28:43.287564+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EMG1 were changed from Bowen-Conradi syndrome, 211180; Bowen-Conradi syndrome to Bowen-Conradi syndrome, MIM#211180",
"entity_name": "EMG1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:28:38.384661+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2343",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: None; Publications: 29146883, 29519864, 26581901; Phenotypes: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 MIM#616738; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:28:25.425461+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: EMG1.",
"entity_name": "EMG1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:28:15.629401+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Founder mutation in Hutterite, D86G. \nSources: Expert list; to: Founder mutation in Hutterite, D86G.\r\n\r\nSGA, contractures.\r\n\r\nSources: Expert list",
"entity_name": "EMG1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:27:05.591664+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EMC1 as ready",
"entity_name": "EMC1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:27:05.581654+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emc1 has been classified as Green List (High Evidence).",
"entity_name": "EMC1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:26:59.202419+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EMC1 were changed from Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. to Cerebellar atrophy, visual impairment, and psychomotor retardation, MIM# 616875",
"entity_name": "EMC1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:26:45.528493+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EMC1 were set to ",
"entity_name": "EMC1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:23:54.772076+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EMC1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EMC1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:23:42.403150+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EMC1 as Green List (high evidence)",
"entity_name": "EMC1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:23:42.387806+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emc1 has been classified as Green List (High Evidence).",
"entity_name": "EMC1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:23:30.728795+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Four unrelated families with bi-allelic variants in this gene reported. Single individual with heterozygous variant: insufficient evidence at present for mono allelic variants causing disease. \nSources: Expert list; to: Four unrelated families with bi-allelic variants in this gene reported. Microcephaly is acquired; CC abnormalities reported.\r\n\r\nSingle individual with heterozygous variant: insufficient evidence at present for mono allelic variants causing disease. \r\nSources: Expert list",
"entity_name": "EMC1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:22:07.835983+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2S3 as ready",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:22:07.825829+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2s3 has been classified as Green List (High Evidence).",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:22:01.865188+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EIF2S3 were set to ",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:21:50.365376+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EIF2S3 as Green List (high evidence)",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:21:50.354796+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2s3 has been classified as Green List (High Evidence).",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:21:39.430008+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 9 families reported (3 had the same variant) with MEHMO syndrome (mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity).; to: 9 families reported (3 had the same variant) with MEHMO syndrome (mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity).\r\n\r\nCleft palate also reported.",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:20:33.657851+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EHBP1L1 as ready",
"entity_name": "EHBP1L1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:20:33.643215+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ehbp1l1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EHBP1L1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:20:30.270146+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EHBP1L1 were changed from non-immune hydrops fetalis MONDO:0009369 to Non-immune hydrops fetalis MONDO:0009369",
"entity_name": "EHBP1L1",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:19:34.700379+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EEF1A2 as ready",
"entity_name": "EEF1A2",
"entity_type": "gene"
},
{
"created": "2022-01-17T12:19:34.689469+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.2336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eef1a2 has been classified as Red List (Low Evidence).",
"entity_name": "EEF1A2",
"entity_type": "gene"
}
]
}