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{
"count": 220828,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1006",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1004",
"results": [
{
"created": "2022-02-04T16:14:15.873120+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10920",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: COL25A1 were changed from Fibrosis of extraocular muscles, congenital, 5, MIM# 616219 to Fibrosis of extraocular muscles, congenital, 5, MIM# 616219; arthrogryposis multiplex congenita MONDO:0015168",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2022-02-04T16:11:55.107140+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10919",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: COL25A1 were set to 25500261; 26486031; 31875546; 26437029",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2022-02-04T16:10:37.789085+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10918",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: COL25A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35077597, 26437029; Phenotypes: arthrogryposis multiplex congenita MONDO:0015168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2022-02-04T16:09:08.551306+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.322",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: COL25A1 as ready",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2022-02-04T16:09:08.539319+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.322",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: col25a1 has been classified as Green List (High Evidence).",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2022-02-04T16:08:52.690232+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.322",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: COL25A1 as Green List (high evidence)",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2022-02-04T16:08:52.678528+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.322",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: col25a1 has been classified as Green List (High Evidence).",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2022-02-04T16:07:07.190955+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.321",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COL25A1 was added\ngene: COL25A1 was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: COL25A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COL25A1 were set to 35077597; 26437029\nPhenotypes for gene: COL25A1 were set to arthrogryposis multiplex congenita MONDO:0015168\nReview for gene: COL25A1 was set to GREEN\nAdded comment: 6 cases from 4 unrelated families with AMC as a feature of the phenotype\r\nPMID: 35077597 - 5 patients from 3 unrelated families with biallelic missense and splice site COL25A1 variants presenting with arthrogryposis multiplex congenita with or without an ocular congenital cranial dysinnervation disorder phenotype\r\nPMID: 26437029 - Patient: 273182 in DECIPHER with compound het missense variants. Phenotype includes Congenital finger flexion contractures, Contracture of the distal interphalangeal joint of the 2nd finger, Duane anomaly \nSources: Literature",
"entity_name": "COL25A1",
"entity_type": "gene"
},
{
"created": "2022-02-04T15:53:33.670296+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.21",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: SCN2A was added\ngene: SCN2A was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SCN2A were set to 33528536; 29761117; 34114234\nPhenotypes for gene: SCN2A were set to Developmental and epileptic encephalopathy 11 (DEE11), MIM# 613721\nReview for gene: SCN2A was set to GREEN\nAdded comment: Four single cases with de novo pathogenic/likely pathogenic missense variants in individuals with a clinical diagnosis of cerebral palsy. Mutations in SCN2A cause a spectrum of early-onset epileptic encephalopathies, with some cases reported to have movement disorders clinically overlapping with cerebral palsy. \nSources: Literature",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2022-02-04T15:43:15.378823+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.187",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: HYAL2 was added\ngene: HYAL2 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: HYAL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HYAL2 were set to 34906488; 28081210; 23172227; 26515055\nPhenotypes for gene: HYAL2 were set to Cleft lip and palate; cor triatriatum; congenital cardiac malformations\nReview for gene: HYAL2 was set to GREEN\nAdded comment: Combined reported phenotypic features of 17 individuals from both studies\r\n•\tHyperterlorism 13/16\r\n•\tExternal ear anomalies – 11/14\r\n•\tCleft lip/palate – 10/17\r\n•\tMicrognathia – 9/14\r\n•\tCardiac anomalies 12/17\r\n•\tFrontal bossing 5/14\r\n•\tPtosis 5/13\r\n•\tPectus excavatum 7/16\r\n•\tMyopia 11/11\r\n•\tCataract 2/8\r\n•\tHearing loss 7/16 \nSources: Literature",
"entity_name": "HYAL2",
"entity_type": "gene"
},
{
"created": "2022-02-04T15:40:53.289499+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10918",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RPL8 as ready",
"entity_name": "RPL8",
"entity_type": "gene"
},
{
"created": "2022-02-04T15:40:53.274559+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10918",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rpl8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPL8",
"entity_type": "gene"
},
{
"created": "2022-02-04T15:39:02.678891+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10918",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RPL8 as Amber List (moderate evidence)",
"entity_name": "RPL8",
"entity_type": "gene"
},
{
"created": "2022-02-04T15:39:02.665680+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10918",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rpl8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPL8",
"entity_type": "gene"
},
{
"created": "2022-02-04T15:37:28.912619+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10917",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: HYAL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34906488, 28081210, 23172227, 26515055; Phenotypes: Cleft lip and palate, cor triatriatum, congenital cardiac malformations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HYAL2",
"entity_type": "gene"
},
{
"created": "2022-02-04T15:31:36.601288+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3140",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: HYAL2 was added\ngene: HYAL2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: HYAL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HYAL2 were set to 34906488; 28081210; 23172227; 26515055\nPhenotypes for gene: HYAL2 were set to Cleft lip and palate; cor triatriatum; congenital cardiac malformations\nReview for gene: HYAL2 was set to GREEN\nAdded comment: PMID 28081210 Muggenthaler et al 2017 - 2 unrelated consanguineous extended families (Amish and Arab) with an orofacial clefting phenotype with cardiac anomalies\r\n\r\nPMID 34906488 Fasham et al 2021 - report 10 additional individuals from 6 unrelated families (Amish x2 - same founder variant as in previous study, Romanian, Italian, Northern European ancestry)\r\n\r\nCombined reported phenotypic features of 17 individuals from both studies most relevant in the prenatal setting include:\r\n•\tHyperterlorism 13/16\r\n•\tExternal ear anomalies – 11/14\r\n•\tCleft lip/palate – 10/17\r\n•\tMicrognathia – 9/14\r\n•\tCardiac anomalies 12/17 \nSources: Literature",
"entity_name": "HYAL2",
"entity_type": "gene"
},
{
"created": "2022-02-04T15:29:05.177893+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.170",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: HYAL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34906488, 28081210, 23172227, 26515055; Phenotypes: Cleft lip and palate, cor triatriatum, congenital cardiac malformations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HYAL2",
"entity_type": "gene"
},
{
"created": "2022-02-04T15:25:36.885756+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCB4 were changed from Cholestasis, progressive familial intrahepatic 3 MIM#602347; disorder of bile acid metabolism to Cholestasis, progressive familial intrahepatic 3 MIM#602347; disorder of bile acid metabolism; Cholestasis, intrahepatic, of pregnancy, 3 (MIM#614972); Gallbladder disease 1 (MIM#600803)",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2022-02-04T15:24:56.154711+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCB4 were set to 8666348; 17726488",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2022-02-04T15:23:46.340030+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCB4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2022-02-04T15:22:50.111646+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCB4 were changed from Cholestasis, progressive familial intrahepatic 3 MIM#602347; disorder of bile acid metabolism to Cholestasis, progressive familial intrahepatic 3 MIM#602347; disorder of bile acid metabolism; Gallbladder disease 1 (MIM#600803)",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2022-02-04T15:22:28.114613+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCB4 were set to 8666348; 17726488",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2022-02-04T15:22:02.000714+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCB4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2022-02-04T15:19:27.786539+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10914",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RPL8 was added\ngene: RPL8 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RPL8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPL8 were set to 25424902; 34961992\nPhenotypes for gene: RPL8 were set to Diamond-Blackfan anemia MONDO:0015253\nReview for gene: RPL8 was set to AMBER\nAdded comment: 2 unrelated DBA cases with de novo missense variants, and functional studies in lymphoblastoid cells and yeast models demonstrate the 2 missense variants are functionally deficient proteins that affect ribosome production. \nSources: Literature",
"entity_name": "RPL8",
"entity_type": "gene"
},
{
"created": "2022-02-04T15:18:44.350820+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RPL8 as ready",
"entity_name": "RPL8",
"entity_type": "gene"
},
{
"created": "2022-02-04T15:18:44.341234+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rpl8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPL8",
"entity_type": "gene"
},
{
"created": "2022-02-04T15:18:08.186351+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4495",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PAX5 as ready",
"entity_name": "PAX5",
"entity_type": "gene"
},
{
"created": "2022-02-04T15:18:08.168945+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4495",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pax5 has been classified as Green List (High Evidence).",
"entity_name": "PAX5",
"entity_type": "gene"
},
{
"created": "2022-02-04T15:18:05.867750+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RPL8 as Amber List (moderate evidence)",
"entity_name": "RPL8",
"entity_type": "gene"
},
{
"created": "2022-02-04T15:18:05.858691+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rpl8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPL8",
"entity_type": "gene"
},
{
"created": "2022-02-04T15:17:25.901112+11:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "1.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RPL8 was added\ngene: RPL8 was added to Diamond Blackfan anaemia. Sources: Literature\nMode of inheritance for gene: RPL8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPL8 were set to 25424902; 34961992\nPhenotypes for gene: RPL8 were set to Diamond-Blackfan anemia MONDO:0015253\nReview for gene: RPL8 was set to AMBER\nAdded comment: 2 unrelated DBA cases with de novo missense variants, and functional studies in lymphoblastoid cells and yeast models demonstrate the 2 missense variants are functionally deficient proteins that affect ribosome production. \nSources: Literature",
"entity_name": "RPL8",
"entity_type": "gene"
},
{
"created": "2022-02-04T15:15:43.889595+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.219",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: ABCB4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18482588, 28924228, 32376413; Phenotypes: Cholestasis, intrahepatic, of pregnancy, 3 (MIM#614972), Gallbladder disease 1 (MIM#600803); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2022-02-04T15:14:30.606337+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10913",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: ABCB4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18482588, 28924228, 32376413; Phenotypes: Cholestasis, intrahepatic, of pregnancy, 3 (MIM#614972), Gallbladder disease 1 (MIM#600803); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2022-02-04T15:09:16.034519+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3140",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: HOXA2 was added\ngene: HOXA2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: HOXA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: HOXA2 were set to 18394579; 23775976; 27503514; 28109504; 31567444; 32649979\nPhenotypes for gene: HOXA2 were set to Microtia with or without hearing impairment (AD) - MIM#612290\nReview for gene: HOXA2 was set to GREEN\nAdded comment: Heterozygous variants associated with non-syndromic microtia and hearing loss reported in over 5 families\r\n\r\nHomozygous variant associated with severe microtia, hearing loss and partial cleft palate reported in 3 affected individuals in 1 family.\r\n\r\nSupportive mouse models\r\n\r\n---\r\n\r\nPMID: 18394579 Alasti et al 2008 - first identified 3 affected individuals from one consanguineous Persian family also had partial cleft palate with homozygous HOXA2 variant. Only family with AR inheritance reported so far.\r\n\r\nPMID: 23775976 Brown et al 2013 – multiple affected individuals from one family with non-syndromic bilateral microtia and hearing loss segregating as an autosomal dominant trait. Exome sequencing identified heterozygous protein truncating HOXA2 nonsense change (c.703C>T, p.Q235*). \r\n\r\nPMID: 27503514 Piceci et al 2017 – reported one family with isolated bilateral microtia segregating as an autosomal dominant trait. Heterozygous protein truncating nonsense variant identified [c.670G>T, p.(Glu224*)] segregating in all affected individuals \r\n\r\nPMID: 28109504 Hao et al 2017 - 2 novel variants in the 5’ UTR of HOXA2 identified in a screen of patients with microtia, limited phenotypic information\r\n\r\nPMID: 31567444 Meddaugh et al 2020 - reported heterozygous variant in 4-year-old Caucasian male with bilateral dysplastic ears and conductive hearing loss.\r\n\r\nPMID: 32649979 Si et al 2020 – reported two Chinese families with non-syndromic bilateral microtia identifying two separate heterozygous nonsense HOXA2 variants \nSources: Literature",
"entity_name": "HOXA2",
"entity_type": "gene"
},
{
"created": "2022-02-04T15:03:52.837918+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4495",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PAX5 as Green List (high evidence)",
"entity_name": "PAX5",
"entity_type": "gene"
},
{
"created": "2022-02-04T15:03:52.829073+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4495",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pax5 has been classified as Green List (High Evidence).",
"entity_name": "PAX5",
"entity_type": "gene"
},
{
"created": "2022-02-04T15:03:27.836558+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10913",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: PAX5 were set to ",
"entity_name": "PAX5",
"entity_type": "gene"
},
{
"created": "2022-02-04T14:59:38.105929+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4494",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PAX5 was added\ngene: PAX5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PAX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PAX5 were set to 35094443; 31452935; 28263302; 25418537; 8001127; 27626380\nPhenotypes for gene: PAX5 were set to neurodevelopmental disorder MONDO:0700092\nReview for gene: PAX5 was set to GREEN\nAdded comment: 5 individuals from 4 families with large deletions involving PAX5 and 11 individuals from 9 families with frameshift/stopgain/missense variants and neurodevelopmental phenotypes that included delayed developmental milestones (DD), intellectual disability (ID), and/or ASD. 6 of the variants are de novo. Null mouse have retarded growth and altered patterning of the posterior midbrain. Pax5+/− mice of both sexes are hyperactive and have abnormal auditory brainstem responses. \nSources: Literature",
"entity_name": "PAX5",
"entity_type": "gene"
},
{
"created": "2022-02-04T14:59:37.458752+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10912",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX5",
"entity_type": "gene"
},
{
"created": "2022-02-04T14:54:47.871496+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10911",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: PAX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 35094443, 31452935, 28263302, 25418537, 8001127, 27626380; Phenotypes: neurodevelopmental disorder MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX5",
"entity_type": "gene"
},
{
"created": "2022-02-04T14:16:13.746454+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4493",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: EEF1B2 were changed from Intellectual disability to neurodevelopmental disorder MONDO:0700092; non-syndromic ID and seizures; Intellectual disability",
"entity_name": "EEF1B2",
"entity_type": "gene"
},
{
"created": "2022-02-04T14:12:28.346641+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4492",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: EEF1B2 were set to 31845318; 21937992",
"entity_name": "EEF1B2",
"entity_type": "gene"
},
{
"created": "2022-02-04T14:11:47.538164+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4491",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EEF1B2 as Green List (high evidence)",
"entity_name": "EEF1B2",
"entity_type": "gene"
},
{
"created": "2022-02-04T14:11:47.525628+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4491",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: eef1b2 has been classified as Green List (High Evidence).",
"entity_name": "EEF1B2",
"entity_type": "gene"
},
{
"created": "2022-02-04T14:11:08.654358+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4490",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: EEF1B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31845318, 21937992, 35015920; Phenotypes: neurodevelopmental disorder MONDO:0700092, non-syndromic ID and seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EEF1B2",
"entity_type": "gene"
},
{
"created": "2022-02-04T13:32:00.288826+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10911",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: EEF1B2 were changed from Intellectual disability to neurodevelopmental disorder MONDO:0700092; non-syndromic ID and seizures; Intellectual disability",
"entity_name": "EEF1B2",
"entity_type": "gene"
},
{
"created": "2022-02-04T13:30:11.051105+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10910",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: EEF1B2 were set to 31845318; 21937992",
"entity_name": "EEF1B2",
"entity_type": "gene"
},
{
"created": "2022-02-04T13:27:48.226887+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10909",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EEF1B2 as Green List (high evidence)",
"entity_name": "EEF1B2",
"entity_type": "gene"
},
{
"created": "2022-02-04T13:27:48.214041+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10909",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: eef1b2 has been classified as Green List (High Evidence).",
"entity_name": "EEF1B2",
"entity_type": "gene"
},
{
"created": "2022-02-04T13:26:05.958900+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10908",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: EEF1B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31845318, 21937992, 35015920; Phenotypes: neurodevelopmental disorder MONDO:0700092, non-syndromic ID and seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EEF1B2",
"entity_type": "gene"
},
{
"created": "2022-02-04T13:21:29.982892+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10908",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ARR3 as ready",
"entity_name": "ARR3",
"entity_type": "gene"
},
{
"created": "2022-02-04T13:21:29.971451+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10908",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: arr3 has been classified as Green List (High Evidence).",
"entity_name": "ARR3",
"entity_type": "gene"
},
{
"created": "2022-02-04T13:01:45.347948+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10908",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ARR3 as Green List (high evidence)",
"entity_name": "ARR3",
"entity_type": "gene"
},
{
"created": "2022-02-04T13:01:45.337121+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10908",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: arr3 has been classified as Green List (High Evidence).",
"entity_name": "ARR3",
"entity_type": "gene"
},
{
"created": "2022-02-04T12:56:51.612464+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10907",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ARR3 was added\ngene: ARR3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ARR3 was set to Other\nPublications for gene: ARR3 were set to 27829781; 35001458\nPhenotypes for gene: ARR3 were set to Myopia 26, X-linked, female-limited MIM#301010\nReview for gene: ARR3 was set to GREEN\nAdded comment: At least 6 multi-generational families with female-limited early-onset high myopia. Only female carriers are affected and hemizygous males are unaffected. Authors hypothesise the mode of inheritance might be explained by metabolic interference due to X-inactivation. \nSources: Literature",
"entity_name": "ARR3",
"entity_type": "gene"
},
{
"created": "2022-02-04T12:47:29.938049+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10906",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SLC26A8 as ready",
"entity_name": "SLC26A8",
"entity_type": "gene"
},
{
"created": "2022-02-04T12:47:29.929250+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10906",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc26a8 has been classified as Green List (High Evidence).",
"entity_name": "SLC26A8",
"entity_type": "gene"
},
{
"created": "2022-02-04T12:44:41.078951+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10906",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: SLC26A8 were changed from to non-syndromic male infertility due to sperm motility disorder MONDO:0017173",
"entity_name": "SLC26A8",
"entity_type": "gene"
},
{
"created": "2022-02-04T12:40:39.505590+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10905",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: SLC26A8 were set to ",
"entity_name": "SLC26A8",
"entity_type": "gene"
},
{
"created": "2022-02-04T12:34:11.947774+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10904",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC26A8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC26A8",
"entity_type": "gene"
},
{
"created": "2022-02-04T12:29:14.300405+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10903",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: SLC26A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 34923715, 23582645, 22121115; Phenotypes: non-syndromic male infertility due to sperm motility disorder MONDO:0017173; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC26A8",
"entity_type": "gene"
},
{
"created": "2022-02-04T08:14:44.619381+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PYROXD2 as Amber List (moderate evidence)",
"entity_name": "PYROXD2",
"entity_type": "gene"
},
{
"created": "2022-02-04T08:14:44.604122+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pyroxd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PYROXD2",
"entity_type": "gene"
},
{
"created": "2022-02-03T21:29:26.770242+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3140",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: FTO was added\ngene: FTO was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: FTO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FTO were set to 19559399; 26378117\nPhenotypes for gene: FTO were set to Growth retardation, developmental delay, facial dysmorphism - MIM#612938; multiple congenital malformations\nReview for gene: FTO was set to AMBER\nAdded comment: Biallelic variants associated with syndromic ID reported in 2 unrelated families.\r\n\r\nPMID: 26378117 Daoud et al 2016 - homozygous missense variant identified in a female proband. 3rd child to consanguineous Tunisian parents. Proband also carried a paternally inherited balanced translocation. Antenatal USS identified IUGR. Postnatal Echo showed PDA and hypertrabeculation of LV apex.\r\n\r\nPMID 19559399 Boissel et al 2009 - homozygous missense variant identified in 9 affected individuals from a consanguineous Palestinian Arab family. Phenotypic features identified most pertinent to the prenatal setting include: 3/7 IUGR, 7/7 retrognathia, congenital heart disease 6/8, lissencephaly 3/8, hypertrophic cardiomyopathy 4/8, hydrocephalus 4/8, cleft palate/bifid uvula 3/6. \nSources: Literature",
"entity_name": "FTO",
"entity_type": "gene"
},
{
"created": "2022-02-03T19:00:29.505596+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PYROXD2 as ready",
"entity_name": "PYROXD2",
"entity_type": "gene"
},
{
"created": "2022-02-03T19:00:29.493939+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pyroxd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PYROXD2",
"entity_type": "gene"
},
{
"created": "2022-02-03T18:54:34.328983+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3140",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: ESRP2 was added\ngene: ESRP2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: ESRP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ESRP2 were set to 29805042\nPhenotypes for gene: ESRP2 were set to Cleft lip\nReview for gene: ESRP2 was set to AMBER\nAdded comment: No new publications since last PanelApp review Feb 2021\r\n\r\n--\r\n\r\nPMID: 29805042 Cox et al. Identified ESRP2 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 likely pathogenic variant (chr16:g.68266284C>T;p.Arg315) was identified in one family. Further analysis of 497 individuals identified a further likely pathogenic variant (chr16:g.68265234G>A;p.Arg520*) in another family. \nSources: Literature",
"entity_name": "ESRP2",
"entity_type": "gene"
},
{
"created": "2022-02-03T18:51:08.415171+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3140",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: EIF3F was added\ngene: EIF3F was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: EIF3F was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EIF3F were set to 33736665\nPhenotypes for gene: EIF3F were set to ntellectual developmental disorder, autosomal recessive 67- MIM#618295\nReview for gene: EIF3F was set to GREEN\nAdded comment: No new publications since PanelApp review Oct 2021\r\n\r\nHüffmeier et al (2021) reported 21 patients who were homozygous/compound heterozygous for Phe232Val variant in EIF3F. All affected individuals had developmental delay and speech delay. About half had behavioural problems, altered muscular tone, hearing loss, and short stature (3/7 from birth). The study suggests that microcephaly (4/10 from birth), reduced sensitivity to pain, cleft lip/palate (1/21), congenital heart defect (1/21), gastrointestinal symptoms and ophthalmological symptoms are part of the phenotypic spectrum. \nSources: Literature",
"entity_name": "EIF3F",
"entity_type": "gene"
},
{
"created": "2022-02-03T18:42:22.886923+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3140",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: COL9A3 was added\ngene: COL9A3 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: COL9A3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: COL9A3 were set to 33570243; 31090205; 30450842; 25381065; 24273071; 15551337\nPhenotypes for gene: COL9A3 were set to Epiphyseal dysplasia, multiple, 3, with or without myopathy - MIM#600969; Stickler syndrome\nReview for gene: COL9A3 was set to GREEN\nAdded comment: 6 patients from 4 families reported with biallelic variants associated with a Stickler syndrome like phenotype. All of these cases characterised by the absence of cleft palate, which is noted more commonly in other autosomal dominant forms of Stickler syndrome. \r\n\r\nPotential antenatally detectable features described with biallelic COL9A3 variants include fetal growth restriction (1/6), midface hypoplasia (6/6), tibial and femoral bowing (1/6)\r\n\r\nPMID 33570243 Markova et al 2021 - report a patient with novel Class 4 compound heterozygous COL9A3 variants confirmed to be in trans. Antenatal USS identified fetal growth restriction in the third trimester. Examination findings by clinical geneticist aged 2 provided, including dysmorphic facial features noted - slightly flattened nasal bridge, small nose, mild mid-facial hypoplasia, high palate.\r\n\r\nPMID 31090205 – Nixon et al 2019 - homozygous COL9A3 variant identified in proband, consanguineous family. Antenatal phenotype not provided, mid-facial hypoplasia noted.\r\n\r\nPMID: 30450842 – Hanson-Kahn et al 2018 - proband homozygous for LoF COL9A3 variants. \r\nPhenotypic features included moderate to severe sensorineural hearing loss, high myopia, mid-face hypoplasia and both tibial and femoral bowing at birth. \r\n\r\nPMID 24273071 Faletra et al 2014 - first reported family with AR COL9A3 associated Stickler syndrome due to homozygous LoF variants. 3 siblings with hearing loss, midface hypoplasia, high myopia, variable severity ID from consanguineous Moroccan family. \r\n\r\n--\r\nVariants in COL9A3 have previously been associated with autosomal dominant multiple epiphyseal dysplasia, susceptibility to an intervertebral disc disease, and hearing loss. Generally milder phenotype than individuals with biallelic variants. However, PMID 33633367 Nash et al 2021 - report 2 families with heterozygous COL9A3 variants with a more severe Stickler-like phenotype including severe peripheral lattice vitreoretinal abnormalities and mild/moderate sensorineural hearing loss in some cases. No antenatal information provided \nSources: Literature",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2022-02-03T18:01:20.804487+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PYROXD2 as Amber List (moderate evidence)",
"entity_name": "PYROXD2",
"entity_type": "gene"
},
{
"created": "2022-02-03T18:01:20.793645+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pyroxd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PYROXD2",
"entity_type": "gene"
},
{
"created": "2022-02-03T18:01:14.971562+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PYROXD2 as Amber List (moderate evidence)",
"entity_name": "PYROXD2",
"entity_type": "gene"
},
{
"created": "2022-02-03T18:01:14.955988+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pyroxd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PYROXD2",
"entity_type": "gene"
},
{
"created": "2022-02-03T18:00:50.592060+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PYROXD2 was added\ngene: PYROXD2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PYROXD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PYROXD2 were set to 35055180\nPhenotypes for gene: PYROXD2 were set to Mitochondrial disease, MONDO:0044970\nReview for gene: PYROXD2 was set to AMBER\nAdded comment: Single individual reported, functional data. \nSources: Literature",
"entity_name": "PYROXD2",
"entity_type": "gene"
},
{
"created": "2022-02-03T18:00:36.506911+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PYROXD2 as Amber List (moderate evidence)",
"entity_name": "PYROXD2",
"entity_type": "gene"
},
{
"created": "2022-02-03T18:00:36.497049+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pyroxd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PYROXD2",
"entity_type": "gene"
},
{
"created": "2022-02-03T18:00:29.920906+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PYROXD2 as ready",
"entity_name": "PYROXD2",
"entity_type": "gene"
},
{
"created": "2022-02-03T18:00:29.902411+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pyroxd2 has been classified as Red List (Low Evidence).",
"entity_name": "PYROXD2",
"entity_type": "gene"
},
{
"created": "2022-02-03T17:57:47.961014+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PYROXD2 was added\ngene: PYROXD2 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: PYROXD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PYROXD2 were set to 35055180\nPhenotypes for gene: PYROXD2 were set to Mitochondrial disease, MONDO:0044970\nReview for gene: PYROXD2 was set to AMBER\nAdded comment: Single individual reported, functional data. \nSources: Literature",
"entity_name": "PYROXD2",
"entity_type": "gene"
},
{
"created": "2022-02-03T17:52:07.768668+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOD1 as ready",
"entity_name": "SOD1",
"entity_type": "gene"
},
{
"created": "2022-02-03T17:52:07.751913+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sod1 has been classified as Green List (High Evidence).",
"entity_name": "SOD1",
"entity_type": "gene"
},
{
"created": "2022-02-03T17:51:24.638213+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SOD1 as Green List (high evidence)",
"entity_name": "SOD1",
"entity_type": "gene"
},
{
"created": "2022-02-03T17:51:24.626947+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sod1 has been classified as Green List (High Evidence).",
"entity_name": "SOD1",
"entity_type": "gene"
},
{
"created": "2022-02-03T17:48:58.299828+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10901",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:BAP1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-02-03T17:47:51.918166+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BAP1 as ready",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2022-02-03T17:47:51.895501+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bap1 has been classified as Green List (High Evidence).",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2022-02-03T17:47:45.634551+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BAP1 as Green List (high evidence)",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2022-02-03T17:47:45.616734+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bap1 has been classified as Green List (High Evidence).",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2022-02-03T17:47:25.124450+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BAP1 as ready",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2022-02-03T17:47:25.111968+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bap1 has been classified as Green List (High Evidence).",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2022-02-03T17:47:18.472608+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BAP1 as Green List (high evidence)",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2022-02-03T17:47:18.461328+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bap1 has been classified as Green List (High Evidence).",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2022-02-03T17:46:36.021463+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BAP1 as ready",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2022-02-03T17:46:35.995562+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bap1 has been classified as Green List (High Evidence).",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2022-02-03T17:45:56.206233+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BAP1 as Green List (high evidence)",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2022-02-03T17:45:56.196538+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bap1 has been classified as Green List (High Evidence).",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2022-02-03T17:45:01.374234+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM53 as ready",
"entity_name": "TMEM53",
"entity_type": "gene"
},
{
"created": "2022-02-03T17:45:01.358300+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem53 has been classified as Green List (High Evidence).",
"entity_name": "TMEM53",
"entity_type": "gene"
},
{
"created": "2022-02-03T17:44:56.599747+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM53 as Green List (high evidence)",
"entity_name": "TMEM53",
"entity_type": "gene"
},
{
"created": "2022-02-03T17:44:56.589420+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem53 has been classified as Green List (High Evidence).",
"entity_name": "TMEM53",
"entity_type": "gene"
}
]
}