{"count":221416,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=458","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=456","results":[{"created":"2024-05-10T09:00:19.509724+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2663","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: FGFR1 as Green List (high evidence)","entity_name":"FGFR1","entity_type":"gene"},{"created":"2024-05-10T09:00:19.490926+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2663","user_name":"Ain Roesley","item_type":"entity","text":"Gene: fgfr1 has been classified as Green List (High Evidence).","entity_name":"FGFR1","entity_type":"gene"},{"created":"2024-05-10T08:59:38.351939+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2662","user_name":"Ain Roesley","item_type":"entity","text":"gene: FGFR1 was added\ngene: FGFR1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: FGFR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: FGFR1 were set to 26937548; 31512363; 23812909; 26931467\nPhenotypes for gene: FGFR1 were set to Hartsfield syndrome\t(MIM#615465)\nReview for gene: FGFR1 was set to GREEN\ngene: FGFR1 was marked as current diagnostic\nAdded comment: Seizures is part of the phenotypic spectrum of Hartsfield Syndrome\r\n\r\n*rare reports of AR Hartsfield \nSources: Literature","entity_name":"FGFR1","entity_type":"gene"},{"created":"2024-05-10T08:29:13.565225+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1777","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: CHRNA7 as ready","entity_name":"CHRNA7","entity_type":"gene"},{"created":"2024-05-10T08:29:13.548536+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1777","user_name":"Ain Roesley","item_type":"entity","text":"Gene: chrna7 has been classified as Red List (Low Evidence).","entity_name":"CHRNA7","entity_type":"gene"},{"created":"2024-05-10T08:29:08.680299+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2661","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: CHRNA7 as ready","entity_name":"CHRNA7","entity_type":"gene"},{"created":"2024-05-10T08:29:08.644362+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2661","user_name":"Ain Roesley","item_type":"entity","text":"Gene: chrna7 has been classified as Red List (Low Evidence).","entity_name":"CHRNA7","entity_type":"gene"},{"created":"2024-05-10T08:28:59.852188+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1777","user_name":"Ain Roesley","item_type":"entity","text":"gene: CHRNA7 was added\ngene: CHRNA7 was added to Mendeliome. Sources: Literature\ncnv tags were added to gene: CHRNA7.\nMode of inheritance for gene: CHRNA7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHRNA7 were set to 20979196; 21596161; 21290787\nPhenotypes for gene: CHRNA7 were set to intellectual disability; seizures; hypotonia\nReview for gene: CHRNA7 was set to RED\ngene: CHRNA7 was marked as current diagnostic\nAdded comment: Homozygous deletion of 15q13.3, which includes CHRNA7, causes ID, hypotonia, seizures, encephalopathy \nSources: Literature","entity_name":"CHRNA7","entity_type":"gene"},{"created":"2024-05-10T08:28:48.416038+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2661","user_name":"Ain Roesley","item_type":"entity","text":"gene: CHRNA7 was added\ngene: CHRNA7 was added to Genetic Epilepsy. Sources: Literature\ncnv tags were added to gene: CHRNA7.\nMode of inheritance for gene: CHRNA7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHRNA7 were set to 20979196; 21596161; 21290787\nPhenotypes for gene: CHRNA7 were set to intellectual disability; seizures; hypotonia\nReview for gene: CHRNA7 was set to RED\ngene: CHRNA7 was marked as current diagnostic\nAdded comment: Homozygous deletion of 15q13.3, which includes CHRNA7, causes ID, hypotonia, seizures, encephalopathy \nSources: Literature","entity_name":"CHRNA7","entity_type":"gene"},{"created":"2024-05-09T16:53:36.566336+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.107","user_name":"Hali Van Niel","item_type":"entity","text":"reviewed gene: NEUROD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22784109, 29521454, 10545951, 11575290; Phenotypes: maturity-onset diabetes of the young type 6 MONDO:0011668; Mode of inheritance: Unknown","entity_name":"NEUROD1","entity_type":"gene"},{"created":"2024-05-09T16:46:35.485860+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.107","user_name":"Hali Van Niel","item_type":"entity","text":"reviewed gene: PDX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9326926, 10545531, 10720084, 12970316, 20009086, 19496967; Phenotypes: maturity-onset diabetes of the young type 4 MONDO:0011667; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PDX1","entity_type":"gene"},{"created":"2024-05-09T16:37:58.338413+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.107","user_name":"Hali Van Niel","item_type":"entity","text":"edited their review of gene: PTF1A: Changed publications: 24212882, 21749365, 10507728, 15543146, 19650412, 37854477","entity_name":"PTF1A","entity_type":"gene"},{"created":"2024-05-09T16:37:47.545947+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.107","user_name":"Hali Van Niel","item_type":"entity","text":"edited their review of gene: PTF1A: Changed rating: GREEN","entity_name":"PTF1A","entity_type":"gene"},{"created":"2024-05-09T16:37:38.489216+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.107","user_name":"Hali Van Niel","item_type":"entity","text":"reviewed gene: PTF1A: Rating: ; Mode of pathogenicity: None; Publications: 24212882, 21749365, 10507728, 15543146, 19650412; Phenotypes: permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome MONDO:0012192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PTF1A","entity_type":"gene"},{"created":"2024-05-09T16:23:03.246806+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.107","user_name":"Hali Van Niel","item_type":"entity","text":"reviewed gene: ZFP57: Rating: GREEN; Mode of pathogenicity: None; Publications: 18622393, 27075368, 23150280, 30315371, 35218690, 28334746; Phenotypes: transient neonatal diabetes mellitus MONDO:0020525; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ZFP57","entity_type":"gene"},{"created":"2024-05-09T15:14:24.875678+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.107","user_name":"Hali Van Niel","item_type":"entity","text":"reviewed gene: CAV1: Rating: AMBER; Mode of pathogenicity: None; Publications: 18211975; Phenotypes: diabetes mellitus MONDO:0005015, congenital generalized lipodystrophy type 1 MONDO:0012071; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CAV1","entity_type":"gene"},{"created":"2024-05-09T13:42:28.809015+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.107","user_name":"Hali Van Niel","item_type":"entity","text":"reviewed gene: CIDEC: Rating: RED; Mode of pathogenicity: None; Publications: 20049731; Phenotypes: CIDEC-related familial partial lipodystrophy MONDO:0014098; Mode of inheritance: Unknown","entity_name":"CIDEC","entity_type":"gene"},{"created":"2024-05-09T13:23:16.364261+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.107","user_name":"Hali Van Niel","item_type":"entity","text":"reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16400613, 30337132, 26296322; Phenotypes: neonatal diabetes mellitus MONDO:0016391, coenzyme Q10 deficiency, primary, 1 MONDO:0011829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"COQ2","entity_type":"gene"},{"created":"2024-05-09T13:00:53.323528+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5797","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: ANKRD11: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25413698, https://search.clinicalgenome.org/CCID:004133; Phenotypes: KBG syndrome MONDO:0007846; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ANKRD11","entity_type":"gene"},{"created":"2024-05-09T12:56:15.647242+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.107","user_name":"Hali Van Niel","item_type":"entity","text":"edited their review of gene: LIPC: Changed publications: 1671786, 12777476, 1883393, 22798447, 15126514, 18364377, 32617858","entity_name":"LIPC","entity_type":"gene"},{"created":"2024-05-09T12:55:40.554149+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.107","user_name":"Hali Van Niel","item_type":"entity","text":"reviewed gene: LIPC: Rating: RED; Mode of pathogenicity: None; Publications: 1671786, 12777476, 1883393, 22798447; Phenotypes: diabetes mellitus MONDO:0005015; Mode of inheritance: Unknown","entity_name":"LIPC","entity_type":"gene"},{"created":"2024-05-09T11:19:26.530439+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5797","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: AGTR2: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004075; Phenotypes: X-linked complex neurodevelopmental disorder MONDO:0100148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"AGTR2","entity_type":"gene"},{"created":"2024-05-09T07:20:24.990246+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1776","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNA2 were changed from Seckel syndrome 8, MIM#615807; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156 to Rothmund-Thomson syndrome, type 4, MIM# 620819; Seckel syndrome 8, MIM#615807; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156","entity_name":"DNA2","entity_type":"gene"},{"created":"2024-05-09T07:20:01.961970+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1775","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DNA2 were set to 24389050; 31045292; 23352259; 25635128; 28554558","entity_name":"DNA2","entity_type":"gene"},{"created":"2024-05-09T07:19:36.699256+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1774","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DNA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 37133451; Phenotypes: Rothmund-Thomson syndrome, type 4, MIM# 620819; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNA2","entity_type":"gene"},{"created":"2024-05-09T07:18:19.944991+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.366","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNA2 were changed from Rothmund-Thomson syndrome, MONDO:0010002, DNA2 associated to Rothmund-Thomson syndrome, type 4, MIM# 620819","entity_name":"DNA2","entity_type":"gene"},{"created":"2024-05-09T07:17:35.708812+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.365","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DNA2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Rothmund-Thomson syndrome, type 4, MIM# 620819; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNA2","entity_type":"gene"},{"created":"2024-05-07T23:31:58.039224+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5797","user_name":"Sarah Leigh","item_type":"entity","text":"reviewed gene: MAST3: Rating: GREEN; Mode of pathogenicity: None; Publications: 35095415; Phenotypes: ; Mode of inheritance: None","entity_name":"MAST3","entity_type":"gene"},{"created":"2024-05-07T23:03:30.538749+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2660","user_name":"Sarah Leigh","item_type":"entity","text":"reviewed gene: MAST3: Rating: GREEN; Mode of pathogenicity: None; Publications: 35095415; Phenotypes: ; Mode of inheritance: None","entity_name":"MAST3","entity_type":"gene"},{"created":"2024-05-07T22:09:58.385740+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5797","user_name":"Amy Chiang","item_type":"entity","text":"edited their review of gene: SPR: Added comment: SPR has been classified to have definitive association with dopa-responsive dystonia (reviewed by the Aminoacidopathy Expert Panel on 06/04/2021).\r\n\r\nClinical phenotypes are mainly neuromuscular with characteristic features of axial hypotonia, dystonia, delayed psychomotor development, oculogyric crises, diurnal fluctuation with improvement after sleep; though cognitive impairment ranging from mild to severe levels have been reported in patients with sepiapterin reductase deficiency (PMID: 16049044, 17188538) - 7 Maltese patients with the same homozygous spice variants in SPR (founder effect due to relative small Maltese population); note there was no significant improvement in cognitive ability with L-dopa treatment in these patients despite improvement in their motor abilities (PMID: 16049044) - ? other causes to cognitive impairment in these patients other than SPR associated sepiapterin reductase deficiency\r\n\r\nThere are 271 SPR variants registered in ClinVar to date with only 1 submission from a research lab reported 2 affected individuals with intellectual disability + family history (ClinVar # 625209) - no publication available to verify, ? from BRIDGE consortium study: SPEED project cohort\r\nA start loss variant detected in 5 affected individuals with ID & epilepsy from a Persian consanguineous family - LOD score = 4.027 (PMID: 29302074); Changed publications: PMID: 29302074, 16049044, 17188538; Changed phenotypes: MONDO #0012994, OMIM #612716, axial hypotonia, dystonia with diurnal fluctuation, oculogyric crises, delayed psychomotor development, sepiapterin reductase deficiency","entity_name":"SPR","entity_type":"gene"},{"created":"2024-05-07T21:28:15.973404+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.243","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: CCDC114.","entity_name":"CCDC114","entity_type":"gene"},{"created":"2024-05-07T21:27:45.535019+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1774","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: CCDC114.","entity_name":"CCDC114","entity_type":"gene"},{"created":"2024-05-07T21:27:24.315730+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.32","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: CCDC114.","entity_name":"CCDC114","entity_type":"gene"},{"created":"2024-05-07T21:27:08.740927+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.39","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: CCDC114.","entity_name":"CCDC114","entity_type":"gene"},{"created":"2024-05-07T21:26:36.874188+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: ARMC4.","entity_name":"ARMC4","entity_type":"gene"},{"created":"2024-05-07T21:26:17.422557+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.243","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: ARMC4.","entity_name":"ARMC4","entity_type":"gene"},{"created":"2024-05-07T21:25:52.304054+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1774","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: ARMC4.","entity_name":"ARMC4","entity_type":"gene"},{"created":"2024-05-07T21:25:30.216010+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.32","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: ARMC4.","entity_name":"ARMC4","entity_type":"gene"},{"created":"2024-05-07T21:25:16.017426+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.39","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: ARMC4.","entity_name":"ARMC4","entity_type":"gene"},{"created":"2024-05-07T21:24:24.499954+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.243","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: CCDC151.","entity_name":"CCDC151","entity_type":"gene"},{"created":"2024-05-07T21:24:01.655301+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1774","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: CCDC151.","entity_name":"CCDC151","entity_type":"gene"},{"created":"2024-05-07T21:23:36.977079+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.32","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: CCDC151.","entity_name":"CCDC151","entity_type":"gene"},{"created":"2024-05-07T21:22:32.575388+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.39","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: CCDC151.","entity_name":"CCDC151","entity_type":"gene"},{"created":"2024-05-07T21:21:52.212018+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.243","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: TTC25.","entity_name":"TTC25","entity_type":"gene"},{"created":"2024-05-07T21:21:34.723158+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.32","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: TTC25.","entity_name":"TTC25","entity_type":"gene"},{"created":"2024-05-07T21:21:20.469330+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.39","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: TTC25.","entity_name":"TTC25","entity_type":"gene"},{"created":"2024-05-07T21:21:00.213745+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.418","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: TTC25.","entity_name":"TTC25","entity_type":"gene"},{"created":"2024-05-07T21:20:36.747766+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1774","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: TTC25.","entity_name":"TTC25","entity_type":"gene"},{"created":"2024-05-07T21:19:09.171690+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADAMTS18 as ready","entity_name":"ADAMTS18","entity_type":"gene"},{"created":"2024-05-07T21:19:09.154911+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adamts18 has been classified as Green List (High Evidence).","entity_name":"ADAMTS18","entity_type":"gene"},{"created":"2024-05-07T21:19:05.908587+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADAMTS18 were changed from Microcornea, myopic chorioretinal atrophy, and telecanthus; Genetic Retinal Degeneration Conditions to microcornea-myopic chorioretinal atrophy (MONDO:0014195)","entity_name":"ADAMTS18","entity_type":"gene"},{"created":"2024-05-07T21:18:36.655525+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1774","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADAMTS18 as ready","entity_name":"ADAMTS18","entity_type":"gene"},{"created":"2024-05-07T21:18:36.641969+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1774","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adamts18 has been classified as Green List (High Evidence).","entity_name":"ADAMTS18","entity_type":"gene"},{"created":"2024-05-07T21:18:24.851446+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1774","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ADAMTS18 as Green List (high evidence)","entity_name":"ADAMTS18","entity_type":"gene"},{"created":"2024-05-07T21:18:24.840960+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1774","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adamts18 has been classified as Green List (High Evidence).","entity_name":"ADAMTS18","entity_type":"gene"},{"created":"2024-05-07T21:16:40.742970+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AIPL1 as ready","entity_name":"AIPL1","entity_type":"gene"},{"created":"2024-05-07T21:16:40.732371+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aipl1 has been classified as Green List (High Evidence).","entity_name":"AIPL1","entity_type":"gene"},{"created":"2024-05-07T21:16:35.109068+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AIPL1 were changed from Retinitis  pigmentosa, juvenile; Leber congenital  amaurosis 4; Cone-rod dystrophy to AIPL1-related retinopathy (MONDO:0100438)","entity_name":"AIPL1","entity_type":"gene"},{"created":"2024-05-07T21:16:22.432011+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AIPL1 were set to ","entity_name":"AIPL1","entity_type":"gene"},{"created":"2024-05-07T21:14:53.294098+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1773","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: FOXD3.","entity_name":"FOXD3","entity_type":"gene"},{"created":"2024-05-07T21:14:16.961166+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1773","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: NTF4.","entity_name":"NTF4","entity_type":"gene"},{"created":"2024-05-07T21:13:44.241873+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: C2orf71.","entity_name":"C2orf71","entity_type":"gene"},{"created":"2024-05-07T21:13:16.979270+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1773","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: C2orf71.","entity_name":"C2orf71","entity_type":"gene"},{"created":"2024-05-07T21:12:33.973303+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1773","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPATA13 were changed from primary angle-closure glaucoma to primary angle-closure glaucoma MONDO:0001868","entity_name":"SPATA13","entity_type":"gene"},{"created":"2024-05-07T21:11:59.619602+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1772","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPATA13 as Amber List (moderate evidence)","entity_name":"SPATA13","entity_type":"gene"},{"created":"2024-05-07T21:11:59.608692+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1772","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spata13 has been classified as Amber List (Moderate Evidence).","entity_name":"SPATA13","entity_type":"gene"},{"created":"2024-05-07T21:10:22.194856+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1771","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: WDR36 as Red List (low evidence)","entity_name":"WDR36","entity_type":"gene"},{"created":"2024-05-07T21:10:22.182897+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1771","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wdr36 has been classified as Red List (Low Evidence).","entity_name":"WDR36","entity_type":"gene"},{"created":"2024-05-07T21:09:26.414122+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1770","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: WDR36.","entity_name":"WDR36","entity_type":"gene"},{"created":"2024-05-07T21:08:36.514325+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.182","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: KARS.","entity_name":"KARS","entity_type":"gene"},{"created":"2024-05-07T21:08:11.370712+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.182","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TCOF1 as Green List (high evidence)","entity_name":"TCOF1","entity_type":"gene"},{"created":"2024-05-07T21:08:11.361442+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.182","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tcof1 has been classified as Green List (High Evidence).","entity_name":"TCOF1","entity_type":"gene"},{"created":"2024-05-07T21:07:45.456029+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.181","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TCOF1 as Green List (high evidence)","entity_name":"TCOF1","entity_type":"gene"},{"created":"2024-05-07T21:07:45.437913+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.181","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tcof1 has been classified as Green List (High Evidence).","entity_name":"TCOF1","entity_type":"gene"},{"created":"2024-05-07T21:07:41.121409+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.180","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TCOF1 as ready","entity_name":"TCOF1","entity_type":"gene"},{"created":"2024-05-07T21:07:41.104176+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.180","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tcof1 has been removed from the panel.","entity_name":"TCOF1","entity_type":"gene"},{"created":"2024-05-06T17:17:13.629379+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.180","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: TJP2: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006375; Phenotypes: nonsyndromic genetic hearing loss MONDO:0019497; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TJP2","entity_type":"gene"},{"created":"2024-05-06T17:15:01.576055+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.180","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: TCOF1 was added\ngene: TCOF1 was added to Deafness_IsolatedAndComplex. Sources: Other\nMode of inheritance for gene: TCOF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TCOF1 were set to https://search.clinicalgenome.org/CCID:006342\nPhenotypes for gene: TCOF1 were set to Treacher-Collins syndrome (MONDO:0002457)\nReview for gene: TCOF1 was set to GREEN\nAdded comment: Classified DEFINITIVE by ClinGen Hearing Loss on 17/09/2019 - https://search.clinicalgenome.org/CCID:006342\r\n\r\nThe mechanism of disease is haploinsufficiency. \nSources: Other","entity_name":"TCOF1","entity_type":"gene"},{"created":"2024-05-06T16:15:31.193960+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.180","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"commented on gene: KARS","entity_name":"KARS","entity_type":"gene"},{"created":"2024-05-06T13:08:55.528894+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1770","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: WDR36: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006545; Phenotypes: glaucoma 1, open angle, G MONDO:0012357; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"WDR36","entity_type":"gene"},{"created":"2024-05-06T13:05:42.115404+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1770","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: SPATA13: Rating: AMBER; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006261; Phenotypes: primary angle-closure glaucoma MONDO:0001868; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SPATA13","entity_type":"gene"},{"created":"2024-05-06T12:40:14.451890+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1770","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: C2orf71: Rating: ; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005738; Phenotypes: PCARE-related retinopathy MONDO:0800404; Mode of inheritance: None","entity_name":"C2orf71","entity_type":"gene"},{"created":"2024-05-06T12:31:57.904958+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1770","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: NTF4: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005684; Phenotypes: glaucoma 1, open angle, O MONDO:0013134; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NTF4","entity_type":"gene"},{"created":"2024-05-06T11:52:23.038743+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1770","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: FOXD3: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004877; Phenotypes: aniridia MONDO:0019172; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"FOXD3","entity_type":"gene"},{"created":"2024-05-06T11:39:17.976850+10:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.45","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: CDH3: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004398; Phenotypes: EEM syndrome MONDO:0009155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CDH3","entity_type":"gene"},{"created":"2024-05-06T11:25:53.585380+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.145","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: AIPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004084; Phenotypes: AIPL1-related retinopathy (MONDO:0100438); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AIPL1","entity_type":"gene"},{"created":"2024-05-06T11:16:38.069184+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1770","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: ADAMTS18 was added\ngene: ADAMTS18 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: ADAMTS18 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAMTS18 were set to https://search.clinicalgenome.org/CCID:004057\nPhenotypes for gene: ADAMTS18 were set to microcornea-myopic chorioretinal atrophy (MONDO:0014195)\nReview for gene: ADAMTS18 was set to GREEN\nAdded comment: Classified DEFINITIVE by ClinGen Retina GCEP on 02/03/20222 - https://search.clinicalgenome.org/CCID:004057 \nSources: Other","entity_name":"ADAMTS18","entity_type":"gene"},{"created":"2024-05-06T11:13:25.440430+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.208","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: ADAMTS18: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004057; Phenotypes: microcornea-myopic chorioretinal atrophy (MONDO:0014195); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADAMTS18","entity_type":"gene"},{"created":"2024-05-06T10:37:07.632601+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1770","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: TTC25: Rating: ; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005700; Phenotypes: primary ciliary dyskinesia 35 MONDO:0014910; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TTC25","entity_type":"gene"},{"created":"2024-05-06T10:37:05.458119+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: TTC25: Rating: ; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005700; Phenotypes: primary ciliary dyskinesia 35 MONDO:0014910; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TTC25","entity_type":"gene"},{"created":"2024-05-06T10:35:01.240669+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: CCDC151: Rating: ; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005699; Phenotypes: primary ciliary dyskinesia 30 MONDO:0014465; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CCDC151","entity_type":"gene"},{"created":"2024-05-06T10:34:38.950733+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5797","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COG4 as ready","entity_name":"COG4","entity_type":"gene"},{"created":"2024-05-06T10:34:38.938549+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5797","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cog4 has been classified as Green List (High Evidence).","entity_name":"COG4","entity_type":"gene"},{"created":"2024-05-06T10:34:36.399384+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1770","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: CCDC151: Rating: ; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005699; Phenotypes: primary ciliary dyskinesia 30 MONDO:0014465; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CCDC151","entity_type":"gene"},{"created":"2024-05-06T10:34:34.988852+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5797","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COG4 were changed from  to Saul-Wilson syndrome, OMIM #618150; Congenital disorder of glycosylation, type IIj, OMIM #613489","entity_name":"COG4","entity_type":"gene"},{"created":"2024-05-06T10:32:35.402605+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: ARMC4: Rating: ; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005698; Phenotypes: primary ciliary dyskinesia 23 MONDO:0014193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARMC4","entity_type":"gene"},{"created":"2024-05-06T10:32:14.700685+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1770","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: ARMC4: Rating: ; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005698; Phenotypes: primary ciliary dyskinesia 23 MONDO:0014193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARMC4","entity_type":"gene"},{"created":"2024-05-06T10:30:30.956657+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"commented on gene: CCDC114","entity_name":"CCDC114","entity_type":"gene"},{"created":"2024-05-06T10:20:49.604307+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: DNAH8: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004671; Phenotypes: primary ciliary dyskinesia (MONDO:0016575); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNAH8","entity_type":"gene"},{"created":"2024-05-06T10:18:53.788485+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1770","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: DNAH8: Rating: ; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004671; Phenotypes: primary ciliary dyskinesia (MONDO:0016575), spermatogenic failure 46 (MONDO:0033673); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNAH8","entity_type":"gene"}]}