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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1073",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1071",
"results": [
{
"created": "2021-12-21T17:57:04.507609+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGF3 were changed from DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA AND MICRODONTIA to Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706",
"entity_name": "FGF3",
"entity_type": "gene"
},
{
"created": "2021-12-21T17:56:52.760371+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FGF3 were set to ",
"entity_name": "FGF3",
"entity_type": "gene"
},
{
"created": "2021-12-21T17:56:33.213672+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Most features would not be detectable antenatally, but micrognathia may be evident.; to: Most features would not be detectable antenatally, but micrognathia may be evident.\r\n\r\nOver 50 affected individuals reported, functional data including animal models, expression studies and in vitro functional assays.",
"entity_name": "FGF3",
"entity_type": "gene"
},
{
"created": "2021-12-21T17:56:19.210994+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FGF3: Changed publications: 21480479, 21306635, 18435799, 17236138, 21306635, 18701883, 8223243, 26995070, 29902227, 30504125",
"entity_name": "FGF3",
"entity_type": "gene"
},
{
"created": "2021-12-21T17:55:47.097812+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Delay in gross motor skills thought to be related to balance issues, not truly ID.; to: Most features would not be detectable antenatally, but micrognathia may be evident.",
"entity_name": "FGF3",
"entity_type": "gene"
},
{
"created": "2021-12-21T17:55:22.041359+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FGF3: Changed rating: GREEN",
"entity_name": "FGF3",
"entity_type": "gene"
},
{
"created": "2021-12-21T17:54:28.561245+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGF10 as ready",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2021-12-21T17:54:28.552268+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgf10 has been classified as Green List (High Evidence).",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2021-12-21T17:54:24.260973+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGF10 were changed from LADD SYNDROME to Lacrimoauriculodentodigital syndrome (149730)",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2021-12-21T17:54:10.207167+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FGF10 were set to ",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2021-12-21T17:53:59.294382+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGF10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2021-12-21T17:53:24.673741+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGD1 as ready",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2021-12-21T17:53:24.663695+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgd1 has been classified as Green List (High Evidence).",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2021-12-21T17:53:20.386995+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGD1 were changed from AARSKOG-SCOTT SYNDROME to Aarskog-Scott syndrome, MIM # 305400; Mental retardation, X-linked syndromic 16, MIM# 305400",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2021-12-21T17:53:07.990325+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FGD1 were set to ",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2021-12-21T17:52:52.714021+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Aarskog-Scott syndrome is characterised by short stature, hypertelorism, shawl scrotum, brachydactyly, joint hyperextensibility, short nose, widow's peak, and inguinal hernia. Most patients do not have intellectual disability, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature.\r\n\r\nNumerous cases reported with variants in FGD1 gene with replication over time.; to: Aarskog-Scott syndrome is characterised by short stature, hypertelorism, shawl scrotum, brachydactyly, joint hyperextensibility, short nose, widow's peak, and inguinal hernia. Most patients do not have intellectual disability, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature.\r\n\r\nCleft lip/palate reported.\r\n\r\nNumerous cases reported with variants in FGD1 gene with replication over time.",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2021-12-21T17:51:35.846337+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBXL4 as ready",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2021-12-21T17:51:35.833508+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxl4 has been classified as Green List (High Evidence).",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2021-12-21T17:51:29.949839+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBXL4 were changed from FATAL ENCEPHALOPATHY, LACTIC ACIDOSIS, AND SEVERE MTDNA DEPLETION IN MUSCLE to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2021-12-21T17:51:16.450403+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FBXL4 were set to ",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2021-12-21T17:50:35.932441+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBN2 as ready",
"entity_name": "FBN2",
"entity_type": "gene"
},
{
"created": "2021-12-21T17:50:35.921896+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbn2 has been classified as Green List (High Evidence).",
"entity_name": "FBN2",
"entity_type": "gene"
},
{
"created": "2021-12-21T17:50:14.176605+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FBN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "FBN2",
"entity_type": "gene"
},
{
"created": "2021-12-21T17:49:05.360459+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBN1 as ready",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2021-12-21T17:49:05.350021+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbn1 has been classified as Green List (High Evidence).",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2021-12-21T17:49:00.483317+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBN1 were changed from MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE; MARFAN SYNDROME; SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME to Marfan syndrome, MIM# 154700",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2021-12-21T17:48:46.932384+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FBN1 were set to 30266093",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2021-12-21T17:40:50.491080+11:00",
"panel_name": "Cutis Laxa",
"panel_id": 3129,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: >3 families reported and functional data including mouse model. \nSources: Expert list; to: >3 families reported and functional data including mouse model.\r\n\r\nSingle report of mono-allelic variant (large intragenic duplication).\r\n\r\nSources: Expert list",
"entity_name": "FBLN5",
"entity_type": "gene"
},
{
"created": "2021-12-21T17:40:22.052390+11:00",
"panel_name": "Cutis Laxa",
"panel_id": 3129,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBLN5 as ready",
"entity_name": "FBLN5",
"entity_type": "gene"
},
{
"created": "2021-12-21T17:40:22.042572+11:00",
"panel_name": "Cutis Laxa",
"panel_id": 3129,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbln5 has been classified as Green List (High Evidence).",
"entity_name": "FBLN5",
"entity_type": "gene"
},
{
"created": "2021-12-21T17:40:20.220417+11:00",
"panel_name": "Cutis Laxa",
"panel_id": 3129,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBLN5 were changed from Cutis laxa, autosomal recessive, type IA MIM#219100; ?Cutis laxa, autosomal dominant 2 MIM#614434 to Cutis laxa, autosomal recessive, type IA MIM#219100; Cutis laxa, autosomal dominant 2 MIM#614434",
"entity_name": "FBLN5",
"entity_type": "gene"
},
{
"created": "2021-12-21T17:40:13.743818+11:00",
"panel_name": "Cutis Laxa",
"panel_id": 3129,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FBLN5 were set to ",
"entity_name": "FBLN5",
"entity_type": "gene"
},
{
"created": "2021-12-21T16:50:53.600543+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1413",
"user_name": "Emma Goss",
"item_type": "entity",
"text": "reviewed gene: CSNK2B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34041744 DOI: 10.1111/epi.16931; Phenotypes: genetic epilepsy, developmental delay, intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CSNK2B",
"entity_type": "gene"
},
{
"created": "2021-12-21T15:00:34.688409+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBLN5 as ready",
"entity_name": "FBLN5",
"entity_type": "gene"
},
{
"created": "2021-12-21T15:00:34.677999+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbln5 has been classified as Green List (High Evidence).",
"entity_name": "FBLN5",
"entity_type": "gene"
},
{
"created": "2021-12-21T15:00:25.416374+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBLN5 were changed from to Cutis laxa, autosomal recessive, type IA, MIM#219100; Neuropathy, hereditary, with or without age-related macular degeneration (MIM#608895)",
"entity_name": "FBLN5",
"entity_type": "gene"
},
{
"created": "2021-12-21T15:00:01.392525+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FBLN5 were set to ",
"entity_name": "FBLN5",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:59:39.031464+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FBLN5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FBLN5",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:59:17.765384+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Cutis laxa: >3 families reported with bi-allelic variants and functional data including mouse model. Single individual reported in 2003 with mono-allelic disease (large intragenic duplication).\r\n\r\nNeuropathy +/- macular degeneration:\r\nPMID: 32757322\r\n- 38 individuals from 19 families\r\n- all missense, R373C, D329V and R331H\r\n- some carriers were subjectively healthy although pes cavus, diminished or absent deep tendon reflexesor NCV studies indicate peripheral neuropathy\r\n\r\nPMID: 31945625 \r\n- 1 family with 2 affecteds, R373C\r\n- 1 obligate carrier presented no symptoms\r\n\r\nPMID: 28332470\r\n- 3 affecteds in 1 family with R373C; to: Cutis laxa: >3 families reported with bi-allelic variants and functional data including mouse model. Single individual reported in 2003 with mono-allelic disease (large intragenic duplication).\r\n",
"entity_name": "FBLN5",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:59:02.454756+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FBLN5: Rating: GREEN; Mode of pathogenicity: None; Publications: 12618961, 3232707, 22829427, 11805835, 32757322, 31945625, 23328402, 28332470; Phenotypes: Cutis laxa, autosomal recessive, type IA, MIM#219100, Neuropathy, hereditary, with or without age-related macular degeneration (MIM#608895); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FBLN5",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:54:58.689500+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBLN5 as ready",
"entity_name": "FBLN5",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:54:58.679156+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbln5 has been classified as Green List (High Evidence).",
"entity_name": "FBLN5",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:54:54.657849+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBLN5 were changed from Cutis laxa 219100; Cutis laxa 614434 to Cutis laxa, autosomal recessive, type IA, MIM#219100",
"entity_name": "FBLN5",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:54:34.199652+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: ID is not typically a feature.; to: Fetal overgrowth, CDH and joint dislocations/bone fractures reported.",
"entity_name": "FBLN5",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:54:10.639467+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FBLN5: Changed rating: GREEN",
"entity_name": "FBLN5",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:52:09.353643+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAR1 as ready",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:52:09.340513+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: far1 has been classified as Green List (High Evidence).",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:52:05.173770+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAR1 were changed from Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154 to Peroxisomal fatty acyl-CoA reductase 1 disorder, MIM#616154; Cataracts, spastic paraparesis, and speech delay, MIM#619338",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:51:50.133836+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FAR1 were set to ",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:51:38.625383+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAR1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FAR1",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:50:47.604353+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCI as ready",
"entity_name": "FANCI",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:50:47.594915+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fanci has been classified as Green List (High Evidence).",
"entity_name": "FANCI",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:50:41.832771+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCI were changed from FANCI-RELATED FANCONI ANEMIA; FANCONI ANEMIA to Fanconi anaemia, complementation group I, MIM# 609053; MONDO:0012186",
"entity_name": "FANCI",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:50:25.810993+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCI were set to ",
"entity_name": "FANCI",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:49:54.556165+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCG as ready",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:49:54.547178+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancg has been classified as Green List (High Evidence).",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:49:49.830051+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCG were changed from FANCONI ANEMIA, COMPLEMENTATION GROUP G to Fanconi anaemia, complementation group G, MIM# 614082; MONDO:0013565",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:49:35.306751+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCG were set to ",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:49:05.655761+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCF as ready",
"entity_name": "FANCF",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:49:05.645112+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancf has been classified as Green List (High Evidence).",
"entity_name": "FANCF",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:49:00.464326+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCF were changed from FANCONI ANEMIA, COMPLEMENTATION GROUP F to Fanconi anaemia, complementation group F 603467; MONDO:0011325",
"entity_name": "FANCF",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:48:47.323581+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCF were set to ",
"entity_name": "FANCF",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:48:05.491289+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCE as ready",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:48:05.479923+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fance has been classified as Green List (High Evidence).",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:48:01.507128+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCE were changed from FANCONI ANEMIA, COMPLEMENTATION GROUP E to Fanconi anaemia, complementation group E, MIM# 600901; MONDO:0010953",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:47:47.109745+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCE were set to ",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:44:27.390546+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCD2 as ready",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:44:27.379563+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancd2 has been classified as Green List (High Evidence).",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:44:22.678527+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCD2 were changed from FANCONI ANEMIA, COMPLEMENTATION GROUP D2 to Fanconi anaemia, complementation group D2, MIM# 227646",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:44:10.031928+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCD2 were set to ",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:43:28.819658+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCC as ready",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:43:28.808400+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancc has been classified as Green List (High Evidence).",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:43:24.156966+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCC were changed from FANCONI ANEMIA, COMPLEMENTATION GROUP C to Fanconi anemia, complementation group C, MIM# 227645; MONDO:0009213",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:43:12.011574+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCC were set to ",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:42:39.025126+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCB as ready",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:42:39.011152+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancb has been classified as Green List (High Evidence).",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:42:12.971829+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCB were changed from FANCB-RELATED FANCONI ANEMIA to Fanconi anaemia, complementation group B, MIM# 300514; MONDO:0010351",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:41:59.449886+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCB were set to 28425981",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:41:22.561687+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCA as ready",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:41:22.551366+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fanca has been classified as Green List (High Evidence).",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:41:18.290518+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCA were changed from FANCONI ANEMIA, COMPLEMENTATION GROUP A to Fanconi anaemia, complementation group A, MIM# 227650; MONDO:0009215",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-12-21T14:41:01.794744+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCA were set to ",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-12-21T13:41:33.157073+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ8 were changed from Cantú Syndrome to Cantú Syndrome",
"entity_name": "KCNJ8",
"entity_type": "gene"
},
{
"created": "2021-12-21T13:41:07.647062+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ8 were changed from Brugada syndrome to Cantú Syndrome",
"entity_name": "KCNJ8",
"entity_type": "gene"
},
{
"created": "2021-12-21T13:40:47.754745+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNJ8 were set to 29959160",
"entity_name": "KCNJ8",
"entity_type": "gene"
},
{
"created": "2021-12-21T13:40:26.485155+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: KCNJ8 was changed from to Other",
"entity_name": "KCNJ8",
"entity_type": "gene"
},
{
"created": "2021-12-21T13:40:07.949318+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNJ8 as Green List (high evidence)",
"entity_name": "KCNJ8",
"entity_type": "gene"
},
{
"created": "2021-12-21T13:40:07.939599+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj8 has been classified as Green List (High Evidence).",
"entity_name": "KCNJ8",
"entity_type": "gene"
},
{
"created": "2021-12-21T13:38:19.686859+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYH7 were changed from Myopathy and cardiomyopathy MIM#160760 to Cardiomyopathy, hypertrophic, 1, OMIM:192600; Laing early-onset distal myopathy, MONDO:0008050; Left ventricular noncompaction 5, OMIM:613426; Cardiomyopathy, dilated, 1S, OMIM:613426; Hypertrophic cardiomyopathy 1, MONDO:0008647; Laing distal myopathy, OMIM:160500; Dilated cardiomyopathy 1S, MONDO:0013262",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2021-12-21T13:37:53.104983+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MYH7: Changed phenotypes: Cardiomyopathy, hypertrophic, 1, OMIM:192600, Laing early-onset distal myopathy, MONDO:0008050, Left ventricular noncompaction 5, OMIM:613426, Cardiomyopathy, dilated, 1S, OMIM:613426, Hypertrophic cardiomyopathy 1, MONDO:0008647, Laing distal myopathy, OMIM:160500, Dilated cardiomyopathy 1S, MONDO:0013262",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2021-12-21T13:28:52.908914+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYH7: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, hypertrophic, 1, OMIM:192600 Laing early-onset distal myopathy, MONDO:0008050 Left ventricular noncompaction 5, OMIM:613426 Cardiomyopathy, dilated, 1S, OMIM:613426 Hypertrophic cardiomyopathy 1, MONDO:0008647, Laing distal myopathy, OMIM:160500, Dilated cardiomyopathy 1S, MONDO:0013262; Mode of inheritance: None",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2021-12-21T13:26:18.956635+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCN2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 11, MIM# 613721; Mode of inheritance: None",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2021-12-21T13:25:41.456434+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN2A were changed from Developmental and epileptic encephalopathy 11, MIM#182390 to Developmental and epileptic encephalopathy 11, MIM#613721",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2021-12-21T08:17:50.909214+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10333",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: KCNJ8: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24176758, 24700710, 32215968; Phenotypes: Cantú Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNJ8",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:22:34.069539+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CITED2 as ready",
"entity_name": "CITED2",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:22:34.060055+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cited2 has been classified as Green List (High Evidence).",
"entity_name": "CITED2",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:22:26.540290+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CITED2 were changed from to Atrial septal defect 8 - MIM#614433; Ventricular septal defect 2 - MIM#614431",
"entity_name": "CITED2",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:22:10.504849+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CITED2 were set to ",
"entity_name": "CITED2",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:21:51.529856+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CITED2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CITED2",
"entity_type": "gene"
},
{
"created": "2021-12-20T18:21:07.823581+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS53 were changed from Progressive cerebella-cerebral atrophy type 2; PONTOCEREBELLAR HYPOPLASIA, TYPE 2E 615851 to Pontocerebellar hypoplasia, type 2E, OMIM #615851",
"entity_name": "VPS53",
"entity_type": "gene"
}
]
}