{"count":220363,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=40","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=38","results":[{"created":"2026-02-07T09:33:11.651341+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.88","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FBXO38 was added\ngene: FBXO38 was added to Hereditary Neuropathy. Sources: Expert Review Amber,Royal Melbourne Hospital\nMode of inheritance for gene: FBXO38 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FBXO38 were set to Neuronopathy, distal hereditary motor, type IID, 615575; dHMN/dSMA","entity_name":"FBXO38","entity_type":"gene"},{"created":"2026-02-07T09:32:39.976094+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.87","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene FBLN5 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T09:32:39.841797+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.87","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FBLN5 was added\ngene: FBLN5 was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert Review Green,Royal Melbourne Hospital,Victorian Clinical Genetics Services\nMode of inheritance for gene: FBLN5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FBLN5 were set to 32757322; 31945625; 23328402; 28332470\nPhenotypes for gene: FBLN5 were set to HMSN; Neuropathy, hereditary, with or without age-related macular degeneration, MIM#608895","entity_name":"FBLN5","entity_type":"gene"},{"created":"2026-02-07T09:31:44.200272+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.86","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene ELP1 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T09:31:44.023704+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.86","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ELP1 was added\ngene: ELP1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ELP1 were set to 11179008; 11179021; 17644305\nPhenotypes for gene: ELP1 were set to Dysautonomia, familial, 223900; Riley-Day syndrome MONDO:0009131; Hereditary sensory and autonomic neuropathy 3; HSAN/SFN","entity_name":"ELP1","entity_type":"gene"},{"created":"2026-02-07T09:31:23.796702+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.85","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene EGR2 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T09:31:23.640383+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.85","user_name":"Bryony Thompson","item_type":"entity","text":"gene: EGR2 was added\ngene: EGR2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert Review Green,Royal Melbourne Hospital,Victorian Clinical Genetics Services\nMode of inheritance for gene: EGR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: EGR2 were set to 11523566; 31852952\nPhenotypes for gene: EGR2 were set to Charcot-Marie-Tooth disease, type 1D 607678 AD; Dejerine-Sottas disease 145900 AD, AR; Hypomyelinating neuropathy, congenital, 1 605253 AD, AR\nMode of pathogenicity for gene: EGR2 was set to Other","entity_name":"EGR2","entity_type":"gene"},{"created":"2026-02-07T09:30:55.775753+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.84","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene DYNC1H1 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T09:30:55.629996+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.84","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DYNC1H1 was added\ngene: DYNC1H1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DYNC1H1 were set to 21820100; 32788638; 27549087\nPhenotypes for gene: DYNC1H1 were set to Charcot-Marie-Tooth disease, axonal, type 20, MIM# 614228","entity_name":"DYNC1H1","entity_type":"gene"},{"created":"2026-02-07T09:30:32.900922+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.83","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene DST from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T09:30:32.735288+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.83","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DST was added\ngene: DST was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital,Literature\nMode of inheritance for gene: DST was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DST were set to 22522446; 30371979; 28468842\nPhenotypes for gene: DST were set to Neuropathy, hereditary sensory and autonomic, type VI, MIM#\t614653; MONDO:0013839; HSAN/SFN","entity_name":"DST","entity_type":"gene"},{"created":"2026-02-07T09:29:13.852777+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.82","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene DRP2 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T09:29:13.714144+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.82","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DRP2 was added\ngene: DRP2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: DRP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: DRP2 were set to 22764250; 26227883; 31217940\nPhenotypes for gene: DRP2 were set to Charcot Marie Tooth, intermediate X-linked; HMSN","entity_name":"DRP2","entity_type":"gene"},{"created":"2026-02-07T09:27:38.957511+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.81","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene DNMT1 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T09:27:38.814962+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.81","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DNMT1 was added\ngene: DNMT1 was added to Hereditary Neuropathy. Sources: Literature,ClinGen,Expert Review Green\nMode of inheritance for gene: DNMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: DNMT1 were set to 22328086, 23904686, 24727570, 25678562, 23521649, 23365052, 21532572, 27602171, 25033457, 31984424\nPhenotypes for gene: DNMT1 were set to Hereditary sensory neuropathy-deafness-dementia syndrome, MONDO:0013584","entity_name":"DNMT1","entity_type":"gene"},{"created":"2026-02-07T09:27:06.984065+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.80","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene DNM2 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T09:27:06.828124+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.80","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DNM2 was added\ngene: DNM2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: DNM2 were set to 15731758; 17636067; 33459893; 31628461\nPhenotypes for gene: DNM2 were set to Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482; Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482; MONDO:0011674","entity_name":"DNM2","entity_type":"gene"},{"created":"2026-02-07T09:26:45.208986+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.79","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene DNAJB2 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T09:26:44.997423+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.79","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DNAJB2 was added\ngene: DNAJB2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: DNAJB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAJB2 were set to 22522442; 25274842; 33369814; 22522442\nPhenotypes for gene: DNAJB2 were set to Neuronopathy, distal hereditary motor, autosomal recessive 5 (MIM#614881)","entity_name":"DNAJB2","entity_type":"gene"},{"created":"2026-02-07T09:26:25.392611+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.78","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene DHX9 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T09:26:25.237180+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.78","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DHX9 was added\ngene: DHX9 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature\nMode of inheritance for gene: DHX9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DHX9 were set to 37467750\nPhenotypes for gene: DHX9 were set to Charcot-Marie-Tooth disease, MONDO:0015626, DHX9-related","entity_name":"DHX9","entity_type":"gene"},{"created":"2026-02-07T09:26:06.578166+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.77","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene DHTKD1 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T09:26:06.435345+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.77","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DHTKD1 was added\ngene: DHTKD1 was added to Hereditary Neuropathy. Sources: Literature,Expert Review Green,Expert Review Amber,NHS GMS\nMode of inheritance for gene: DHTKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DHTKD1 were set to 23141294, 29661920, 28902413\nPhenotypes for gene: DHTKD1 were set to Charcot-Marie-Tooth disease axonal type 2Q MONDO:0014012","entity_name":"DHTKD1","entity_type":"gene"},{"created":"2026-02-07T09:24:59.509560+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.76","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene DGAT2 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T09:24:59.346415+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.76","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DGAT2 was added\ngene: DGAT2 was added to Hereditary Neuropathy. Sources: Expert Review Amber,Expert Review Amber,Expert Review,Royal Melbourne Hospital\nMode of inheritance for gene: DGAT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DGAT2 were set to 26786738\nPhenotypes for gene: DGAT2 were set to Charcot-Marie-Tooth disease, MONDO:0015626, DGAT2-related","entity_name":"DGAT2","entity_type":"gene"},{"created":"2026-02-07T09:23:16.354156+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.75","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene DCTN1 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T09:23:16.216707+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.75","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DCTN1 was added\ngene: DCTN1 was added to Hereditary Neuropathy. Sources: Literature,Expert Review Green\nMode of inheritance for gene: DCTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: DCTN1 were set to 12627231; 15326253; 33443672; 32023010; 27573046\nPhenotypes for gene: DCTN1 were set to Neuronopathy, distal hereditary motor, type 7B, MONDO:0011879","entity_name":"DCTN1","entity_type":"gene"},{"created":"2026-02-07T09:22:57.383698+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.74","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene COX6A1 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T09:22:57.251568+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.74","user_name":"Bryony Thompson","item_type":"entity","text":"gene: COX6A1 was added\ngene: COX6A1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: COX6A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COX6A1 were set to 25152455; 26302975; 25152455\nPhenotypes for gene: COX6A1 were set to Charcot Marie Tooth disease, recessive intermediate D, 616039; MONDO:0014467; HMSN","entity_name":"COX6A1","entity_type":"gene"},{"created":"2026-02-07T09:22:31.893964+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.73","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene COX20 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T09:22:31.724675+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.73","user_name":"Bryony Thompson","item_type":"entity","text":"gene: COX20 was added\ngene: COX20 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature\nMode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COX20 were set to PMID: 33751098\nPhenotypes for gene: COX20 were set to sensory neuronopathy; sensory neuron disease; ganglionopathy","entity_name":"COX20","entity_type":"gene"},{"created":"2026-02-07T09:22:03.959898+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.72","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene CHCHD10 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T09:22:03.819256+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.72","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CHCHD10 was added\ngene: CHCHD10 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nfounder tags were added to gene: CHCHD10.\nMode of inheritance for gene: CHCHD10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHCHD10 were set to 22535186; 27066538\nPhenotypes for gene: CHCHD10 were set to Spinal muscular atrophy, Jokela type: 615048; CMT2; dHMN/dSMA","entity_name":"CHCHD10","entity_type":"gene"},{"created":"2026-02-07T09:21:43.991469+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.71","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene CADM3 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T09:21:43.844413+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.71","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CADM3 was added\ngene: CADM3 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature\nMode of inheritance for gene: CADM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CADM3 were set to 33889941; 38074074\nPhenotypes for gene: CADM3 were set to Charcot-Marie-Tooth disease, axonal, type 2FF, MIM# 619519\nPenetrance for gene: CADM3 were set to unknown","entity_name":"CADM3","entity_type":"gene"},{"created":"2026-02-07T09:21:03.087612+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.70","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene C1orf194 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T09:21:02.939141+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.70","user_name":"Bryony Thompson","item_type":"entity","text":"gene: C1orf194 was added\ngene: C1orf194 was added to Hereditary Neuropathy. Sources: Expert Review Amber,Literature,Literature\nMode of inheritance for gene: C1orf194 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: C1orf194 were set to 31199454; 32592472\nPhenotypes for gene: C1orf194 were set to Charcot-Marie-Tooth disease, intermediate or demyelinating","entity_name":"C1orf194","entity_type":"gene"},{"created":"2026-02-07T09:20:08.784880+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.69","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene BSCL2 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-07T09:20:08.618936+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.69","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BSCL2 was added\ngene: BSCL2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: BSCL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: BSCL2 were set to 14981520; 15732094\nPhenotypes for gene: BSCL2 were set to Neuropathy, distal hereditary motor, type VC, MIM# 619112","entity_name":"BSCL2","entity_type":"gene"},{"created":"2026-02-06T22:22:56.581881+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.68","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene BICD2 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-06T22:22:56.429181+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.68","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BICD2 was added\ngene: BICD2 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BICD2 were set to 23664116; 23664119; 23664120; 27751653; 28635954; 30054298; 29528393\nPhenotypes for gene: BICD2 were set to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290; MONDO:0014121; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291; dHMN/dSMA","entity_name":"BICD2","entity_type":"gene"},{"created":"2026-02-06T22:22:13.150980+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.67","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene BANF1 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-06T22:22:12.956097+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.67","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BANF1 was added\ngene: BANF1 was added to Hereditary Neuropathy. Sources: Expert Review Red,Literature\nMode of inheritance for gene: BANF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BANF1 were set to 36980188\nPhenotypes for gene: BANF1 were set to Hereditary peripheral neuropathy, MONDO:0020127, BANF1-related","entity_name":"BANF1","entity_type":"gene"},{"created":"2026-02-06T22:21:40.330751+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.66","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene ATP7A from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-06T22:21:40.182606+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.66","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ATP7A was added\ngene: ATP7A was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert Review Green,NHS GMS,Royal Melbourne Hospital\nMode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ATP7A were set to 20170900; 33137485; 31969342; 31558336\nPhenotypes for gene: ATP7A were set to Spinal muscular atrophy, distal, X-linked 3, MIM# 300489; dHMN/dSMA","entity_name":"ATP7A","entity_type":"gene"},{"created":"2026-02-06T22:20:41.812482+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.65","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene ATP1A1 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-06T22:20:41.650598+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.65","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ATP1A1 was added\ngene: ATP1A1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ATP1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP1A1 were set to 29499166\nPhenotypes for gene: ATP1A1 were set to Charcot-Marie-Tooth disease, axonal, type 2DD,MIM# 618036; MONDO:0054833","entity_name":"ATP1A1","entity_type":"gene"},{"created":"2026-02-06T22:20:18.131413+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.64","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene ATL3 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-06T22:20:17.870199+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.64","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ATL3 was added\ngene: ATL3 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ATL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATL3 were set to 24459106; 30666337; 30339187; 24736309\nPhenotypes for gene: ATL3 were set to Hereditary sensory neuropathy type IF; HSAN/SFN","entity_name":"ATL3","entity_type":"gene"},{"created":"2026-02-06T22:19:27.657019+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.63","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene ATL1 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-06T22:19:27.519510+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.63","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ATL1 was added\ngene: ATL1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATL1 were set to 21194679; 24604904; 22340599\nPhenotypes for gene: ATL1 were set to HSAN/SFN; Neuropathy, hereditary sensory, type ID , MIM#613708; MONDO:0013381","entity_name":"ATL1","entity_type":"gene"},{"created":"2026-02-06T22:18:30.608850+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.62","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene ARPC3 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-06T22:18:30.406179+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.62","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ARPC3 was added\ngene: ARPC3 was added to Hereditary Neuropathy. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: ARPC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARPC3 were set to 36928819; 26166300; 40011789\nPhenotypes for gene: ARPC3 were set to Charcot-Marie-Tooth disease MONDO:0015626","entity_name":"ARPC3","entity_type":"gene"},{"created":"2026-02-06T22:17:54.445278+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.61","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene ARHGEF10 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-06T22:17:54.303681+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.61","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ARHGEF10 was added\ngene: ARHGEF10 was added to Hereditary Neuropathy. Sources: Expert Review Amber,Royal Melbourne Hospital\nMode of inheritance for gene: ARHGEF10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARHGEF10 were set to 14508709; 21719701; 25025039; 25275565; 25091364\nPhenotypes for gene: ARHGEF10 were set to ?Slowed nerve conduction velocity, AD, 608236; HMSN","entity_name":"ARHGEF10","entity_type":"gene"},{"created":"2026-02-06T22:17:29.558382+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.60","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene ARHGAP19 from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-06T22:17:29.398970+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.60","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ARHGAP19 was added\ngene: ARHGAP19 was added to Hereditary Neuropathy. Sources: Expert Review Green,Literature,Literature\nMode of inheritance for gene: ARHGAP19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARHGAP19 were set to 41086021\nPhenotypes for gene: ARHGAP19 were set to Charcot-Marie-Tooth disease, axonal, type 2KK, MIM# 621466","entity_name":"ARHGAP19","entity_type":"gene"},{"created":"2026-02-06T22:15:12.408707+11:00","panel_name":"Hereditary Neuropathy","panel_id":3070,"panel_version":"1.58","user_name":"Bryony Thompson","item_type":"panel","text":"Panel name changed from Hereditary Neuropathy - complex to Hereditary Neuropathy","entity_name":null,"entity_type":null},{"created":"2026-02-06T22:11:19.642630+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.57","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene AARS from panel Hereditary Neuropathy_CMT - isolated","entity_name":null,"entity_type":null},{"created":"2026-02-06T22:11:19.507456+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.57","user_name":"Bryony Thompson","item_type":"entity","text":"gene: AARS was added\ngene: AARS was added to Hereditary Neuropathy - complex. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: AARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: AARS were set to 20045102; 22009580; 22206013; 30373780; 26032230\nPhenotypes for gene: AARS were set to Charcot Marie Tooth disease, axonal, type 2N, 613287; HMSN, dHMN/dSMA","entity_name":"AARS","entity_type":"gene"},{"created":"2026-02-06T22:05:00.510182+11:00","panel_name":"Lymphoedema","panel_id":3098,"panel_version":"0.32","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FLT4 as ready","entity_name":"FLT4","entity_type":"gene"},{"created":"2026-02-06T22:05:00.503308+11:00","panel_name":"Lymphoedema","panel_id":3098,"panel_version":"0.32","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: flt4 has been classified as Green List (High Evidence).","entity_name":"FLT4","entity_type":"gene"},{"created":"2026-02-06T22:04:55.750763+11:00","panel_name":"Lymphoedema","panel_id":3098,"panel_version":"0.32","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: FLT4 as Green List (high evidence)","entity_name":"FLT4","entity_type":"gene"},{"created":"2026-02-06T22:04:55.744000+11:00","panel_name":"Lymphoedema","panel_id":3098,"panel_version":"0.32","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: flt4 has been classified as Green List (High Evidence).","entity_name":"FLT4","entity_type":"gene"},{"created":"2026-02-06T22:04:39.052741+11:00","panel_name":"Lymphoedema","panel_id":3098,"panel_version":"0.31","user_name":"Bryony Thompson","item_type":"panel","text":"Added reviews for gene FLT4 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-02-06T22:03:57.288684+11:00","panel_name":"Lymphoedema","panel_id":3098,"panel_version":"0.30","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FLT4 was added\ngene: FLT4 was added to Lymphoedema. Sources: Literature\nMode of inheritance for gene: FLT4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FLT4","entity_type":"gene"},{"created":"2026-02-06T21:57:35.900079+11:00","panel_name":"Lymphoedema","panel_id":3098,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: EPHB4 as Green List (high evidence)","entity_name":"EPHB4","entity_type":"gene"},{"created":"2026-02-06T21:57:35.892242+11:00","panel_name":"Lymphoedema","panel_id":3098,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ephb4 has been classified as Green List (High Evidence).","entity_name":"EPHB4","entity_type":"gene"},{"created":"2026-02-06T21:57:20.893415+11:00","panel_name":"Lymphoedema","panel_id":3098,"panel_version":"0.28","user_name":"Bryony Thompson","item_type":"entity","text":"gene: EPHB4 was added\ngene: EPHB4 was added to Lymphoedema. Sources: Literature\nMode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EPHB4 were set to 34040196; 34231312; 27400125; 29905864\nPhenotypes for gene: EPHB4 were set to EPHB4-associated vascular malformation spectrum MONDO:0700080\nReview for gene: EPHB4 was set to GREEN\nAdded comment: PMID: 34040196 - p.N410K (VUS) in a case with primary lymphoedema\r\nPMID: 34231312 - one family with a primary lymphoedema (c.1998_1999insGC;\r\np.Ile667Alafs*25). The variant allele didn’t fully undergo NMD\r\nPMID: 27400125 - 2 missense segregating in 2 unrelated families\r\nPMID: 29905864 - splice variant producing an in-frame deletion segregating in a family \nSources: Literature","entity_name":"EPHB4","entity_type":"gene"},{"created":"2026-02-06T21:02:34.714911+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.660","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"Classified gene: MAP2K4 as Green List (high evidence)","entity_name":"MAP2K4","entity_type":"gene"},{"created":"2026-02-06T21:02:34.702416+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.660","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"Gene: map2k4 has been classified as Green List (High Evidence).","entity_name":"MAP2K4","entity_type":"gene"},{"created":"2026-02-06T21:01:52.967276+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.372","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"Classified gene: MAP2K4 as Green List (high evidence)","entity_name":"MAP2K4","entity_type":"gene"},{"created":"2026-02-06T21:01:52.954372+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.372","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"Gene: map2k4 has been classified as Green List (High Evidence).","entity_name":"MAP2K4","entity_type":"gene"},{"created":"2026-02-06T21:01:45.459917+11:00","panel_name":"Lymphoedema","panel_id":3098,"panel_version":"0.27","user_name":"Bryony Thompson","item_type":"panel","text":"Panel name changed from Lymphoedema_syndromic to Lymphoedema\nPanel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2026-02-06T21:01:27.591143+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.371","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"Classified gene: MAP2K4 as Green List (high evidence)","entity_name":"MAP2K4","entity_type":"gene"},{"created":"2026-02-06T21:01:27.576602+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.371","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"Gene: map2k4 has been classified as Green List (High Evidence).","entity_name":"MAP2K4","entity_type":"gene"},{"created":"2026-02-06T21:01:01.982652+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.371","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"Classified gene: MAP2K4 as Green List (high evidence)","entity_name":"MAP2K4","entity_type":"gene"},{"created":"2026-02-06T21:01:01.966240+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.371","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"Gene: map2k4 has been classified as Green List (High Evidence).","entity_name":"MAP2K4","entity_type":"gene"},{"created":"2026-02-06T20:59:44.884434+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4262","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"Classified gene: MAP2K4 as Green List (high evidence)","entity_name":"MAP2K4","entity_type":"gene"},{"created":"2026-02-06T20:59:44.877112+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4262","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"Gene: map2k4 has been classified as Green List (High Evidence).","entity_name":"MAP2K4","entity_type":"gene"},{"created":"2026-02-06T20:58:06.857027+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.659","user_name":"Sangavi Sivagnanasundram","item_type":"panel","text":"Copied gene MAP2K4 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-02-06T20:58:06.465663+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.659","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: MAP2K4 was added\ngene: MAP2K4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: MAP2K4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MAP2K4 were set to 41480045\nPhenotypes for gene: MAP2K4 were set to Neurodevelopmental disorder, MONDO:0700092\nMode of pathogenicity for gene: MAP2K4 was set to Other","entity_name":"MAP2K4","entity_type":"gene"},{"created":"2026-02-06T20:57:25.311788+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.370","user_name":"Sangavi Sivagnanasundram","item_type":"panel","text":"Copied gene MAP2K4 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2026-02-06T20:57:25.072728+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.370","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: MAP2K4 was added\ngene: MAP2K4 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: MAP2K4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MAP2K4 were set to 41480045\nPhenotypes for gene: MAP2K4 were set to Neurodevelopmental disorder, MONDO:0700092\nMode of pathogenicity for gene: MAP2K4 was set to Other","entity_name":"MAP2K4","entity_type":"gene"},{"created":"2026-02-06T20:53:58.109547+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4261","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: MAP2K4 was added\ngene: MAP2K4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MAP2K4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MAP2K4 were set to 41480045\nPhenotypes for gene: MAP2K4 were set to Neurodevelopmental disorder, MONDO:0700092\nMode of pathogenicity for gene: MAP2K4 was set to Other\nReview for gene: MAP2K4 was set to GREEN\nAdded comment: PMID 41480045 reports ten individuals from ten unrelated families with heterozygous de novo loss-of-function or missense MAP2K4 variants presenting with a syndromic neurodevelopmental disorder characterized by developmental delay/intellectual disability, epilepsy, and genitourinary and musculoskeletal congenital anomalies. All the reported variants were absent in gnomAD v4.1.\r\n\r\nDD, ID - present in the majority of the reported individuals\r\nCAKUT-like phenotypes reported in 5 individuals \r\nReports of hypotonia in three individuals \r\nEpilepsy was reported in 4 individuals \r\n\r\nA functional study using CRISPR-edited iPSC-derived neurons demonstrates reduced MP2K4 protein and impaired JNK signalling however, more evidence is required to confirm loss of function as the mechanism of disease. There are no pathogenic variants reported in ClinVar in this gene in the germline context. \nSources: Literature","entity_name":"MAP2K4","entity_type":"gene"},{"created":"2026-02-06T20:51:00.177350+11:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.26","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: HGF as Green List (high evidence)","entity_name":"HGF","entity_type":"gene"},{"created":"2026-02-06T20:51:00.168098+11:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.26","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: hgf has been classified as Green List (High Evidence).","entity_name":"HGF","entity_type":"gene"},{"created":"2026-02-06T20:50:39.370892+11:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.25","user_name":"Bryony Thompson","item_type":"panel","text":"Added reviews for gene HGF from panel Lymphoedema_nonsyndromic","entity_name":null,"entity_type":null},{"created":"2026-02-06T20:49:59.897318+11:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.24","user_name":"Bryony Thompson","item_type":"panel","text":"Added reviews for gene PTPN14 from panel Lymphoedema_nonsyndromic","entity_name":null,"entity_type":null},{"created":"2026-02-06T20:48:46.905526+11:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.23","user_name":"Bryony Thompson","item_type":"panel","text":"Added reviews for gene VEGFC from panel Lymphoedema_nonsyndromic","entity_name":null,"entity_type":null},{"created":"2026-02-06T20:48:13.242924+11:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene TIE1 from panel Lymphoedema_nonsyndromic","entity_name":null,"entity_type":null},{"created":"2026-02-06T20:48:13.185893+11:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TIE1 was added\ngene: TIE1 was added to Lymphoedema_syndromic. Sources: Expert Review Green,Literature\nMode of inheritance for gene: TIE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TIE1 were set to 32947856; 24764452; 38820174\nPhenotypes for gene: TIE1 were set to Lymphatic malformation 11, MIM#\t619401","entity_name":"TIE1","entity_type":"gene"},{"created":"2026-02-06T20:46:58.837793+11:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.21","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene RORC from panel Lymphoedema_nonsyndromic","entity_name":null,"entity_type":null},{"created":"2026-02-06T20:46:58.774547+11:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.21","user_name":"Bryony Thompson","item_type":"entity","text":"gene: RORC was added\ngene: RORC was added to Lymphoedema_syndromic. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: RORC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RORC were set to 32960152\nPhenotypes for gene: RORC were set to Lymphoedema","entity_name":"RORC","entity_type":"gene"},{"created":"2026-02-06T20:46:21.647715+11:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.20","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene MDFIC from panel Lymphoedema_nonsyndromic","entity_name":null,"entity_type":null},{"created":"2026-02-06T20:46:21.584680+11:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.20","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MDFIC was added\ngene: MDFIC was added to Lymphoedema_syndromic. Sources: Expert Review Green,Literature\nMode of inheritance for gene: MDFIC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MDFIC were set to PMID: 35235341\nPhenotypes for gene: MDFIC were set to Lymphatic malformation 12 - MIM#620014","entity_name":"MDFIC","entity_type":"gene"},{"created":"2026-02-06T20:45:26.844916+11:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.19","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene ERG from panel Lymphoedema_nonsyndromic","entity_name":null,"entity_type":null},{"created":"2026-02-06T20:45:26.778878+11:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.19","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ERG was added\ngene: ERG was added to Lymphoedema_syndromic. Sources: Expert Review Green,Literature\nMode of inheritance for gene: ERG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ERG were set to 36928819\nPhenotypes for gene: ERG were set to Lymphatic malformation 14, MIM#\t620602\nPenetrance for gene: ERG were set to unknown","entity_name":"ERG","entity_type":"gene"},{"created":"2026-02-06T20:43:46.237743+11:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.18","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene CELSR1 from panel Lymphoedema_nonsyndromic","entity_name":null,"entity_type":null},{"created":"2026-02-06T20:43:46.130255+11:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.18","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CELSR1 was added\ngene: CELSR1 was added to Lymphoedema_syndromic. Sources: Expert Review Green,Literature\nMode of inheritance for gene: CELSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CELSR1 were set to 31215153; 31403174; 26855770\nPhenotypes for gene: CELSR1 were set to Lymphatic malformation 9, MIM# 619319\nPenetrance for gene: CELSR1 were set to Incomplete","entity_name":"CELSR1","entity_type":"gene"}]}