{"count":220377,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1299","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1297","results":[{"created":"2021-06-13T20:07:45.500717+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7967","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MUSK were changed from  to Fetal akinesia deformation sequence 1, MIM# 208150; MONDO:0100101; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, MIM# 616325; MONDO:0014587","entity_name":"MUSK","entity_type":"gene"},{"created":"2021-06-13T20:07:26.766919+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7966","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MUSK were set to ","entity_name":"MUSK","entity_type":"gene"},{"created":"2021-06-13T20:07:01.677137+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7965","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MUSK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MUSK","entity_type":"gene"},{"created":"2021-06-13T20:06:42.621081+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7964","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MUSK: Rating: GREEN; Mode of pathogenicity: None; Publications: 25537362, 25612909, 8653786, 31750350, 15496425, 19949040, 20371544, 32253145; Phenotypes: Fetal akinesia deformation sequence 1, MIM# 208150, MONDO:0100101, Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, MIM# 616325, MONDO:0014587; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MUSK","entity_type":"gene"},{"created":"2021-06-13T20:04:23.107164+10:00","panel_name":"Multiple pterygium syndrome_Fetal akinesia sequence","panel_id":139,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MUSK as ready","entity_name":"MUSK","entity_type":"gene"},{"created":"2021-06-13T20:04:23.095800+10:00","panel_name":"Multiple pterygium syndrome_Fetal akinesia sequence","panel_id":139,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: musk has been classified as Green List (High Evidence).","entity_name":"MUSK","entity_type":"gene"},{"created":"2021-06-13T20:04:20.308050+10:00","panel_name":"Multiple pterygium syndrome_Fetal akinesia sequence","panel_id":139,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MUSK were changed from  to Fetal akinesia deformation sequence 1, MIM# 208150; MONDO:0100101","entity_name":"MUSK","entity_type":"gene"},{"created":"2021-06-13T20:03:50.427683+10:00","panel_name":"Multiple pterygium syndrome_Fetal akinesia sequence","panel_id":139,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MUSK were set to ","entity_name":"MUSK","entity_type":"gene"},{"created":"2021-06-13T20:03:23.908726+10:00","panel_name":"Multiple pterygium syndrome_Fetal akinesia sequence","panel_id":139,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MUSK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MUSK","entity_type":"gene"},{"created":"2021-06-13T20:02:53.975548+10:00","panel_name":"Multiple pterygium syndrome_Fetal akinesia sequence","panel_id":139,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MUSK: Changed phenotypes: Fetal akinesia deformation sequence 1, MIM# 208150, MONDO:0100101","entity_name":"MUSK","entity_type":"gene"},{"created":"2021-06-13T20:02:31.610918+10:00","panel_name":"Multiple pterygium syndrome_Fetal akinesia sequence","panel_id":139,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MUSK: Rating: GREEN; Mode of pathogenicity: None; Publications: 25537362, 25612909, 8653786, 31750350; Phenotypes: Fetal akinesia deformation sequence 1, MIM# 208150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MUSK","entity_type":"gene"},{"created":"2021-06-13T19:59:54.662565+10:00","panel_name":"Multiple pterygium syndrome_Fetal akinesia sequence","panel_id":139,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DOK7 as ready","entity_name":"DOK7","entity_type":"gene"},{"created":"2021-06-13T19:59:54.653589+10:00","panel_name":"Multiple pterygium syndrome_Fetal akinesia sequence","panel_id":139,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dok7 has been classified as Green List (High Evidence).","entity_name":"DOK7","entity_type":"gene"},{"created":"2021-06-13T19:59:06.689835+10:00","panel_name":"Multiple pterygium syndrome_Fetal akinesia sequence","panel_id":139,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"panel","text":"Panel name changed from Multiple pterygium syndrome to Multiple pterygium syndrome_Fetal akinesia sequence\nPanel types changed to Victorian Clinical Genetics Services; Rare Disease","entity_name":null,"entity_type":null},{"created":"2021-06-13T18:46:17.042580+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GLE1 as ready","entity_name":"GLE1","entity_type":"gene"},{"created":"2021-06-13T18:46:17.030525+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gle1 has been classified as Green List (High Evidence).","entity_name":"GLE1","entity_type":"gene"},{"created":"2021-06-13T18:46:14.562863+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GLE1 were changed from  to Lethal congenital contracture syndrome 1, MIM# 253310","entity_name":"GLE1","entity_type":"gene"},{"created":"2021-06-13T18:45:57.932450+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GLE1 were set to ","entity_name":"GLE1","entity_type":"gene"},{"created":"2021-06-13T18:45:33.695997+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GLE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GLE1","entity_type":"gene"},{"created":"2021-06-13T18:45:04.576880+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GLE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18204449, 22357925; Phenotypes: Lethal congenital contracture syndrome 1, MIM# 253310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GLE1","entity_type":"gene"},{"created":"2021-06-13T18:35:13.964449+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7964","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DOK7 as ready","entity_name":"DOK7","entity_type":"gene"},{"created":"2021-06-13T18:35:13.954948+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7964","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dok7 has been classified as Green List (High Evidence).","entity_name":"DOK7","entity_type":"gene"},{"created":"2021-06-13T18:35:05.987821+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7964","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DOK7 were changed from  to Myasthenic syndrome, congenital, 10, MIM# 254300; Fetal akinesia deformation sequence 3, MIM# 618389","entity_name":"DOK7","entity_type":"gene"},{"created":"2021-06-13T18:34:48.635993+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7963","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DOK7 were set to ","entity_name":"DOK7","entity_type":"gene"},{"created":"2021-06-13T18:34:31.621015+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7962","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DOK7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOK7","entity_type":"gene"},{"created":"2021-06-13T18:34:15.274377+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7961","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DOK7: Rating: GREEN; Mode of pathogenicity: None; Publications: 16917026, 18626973, 20147321, 16794080, 31453852, 29395672, 32360404, 19261599, 31880392; Phenotypes: Myasthenic syndrome, congenital, 10, MIM# 254300, Fetal akinesia deformation sequence 3, MIM# 618389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOK7","entity_type":"gene"},{"created":"2021-06-13T18:34:01.662817+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DOK7 were changed from  to Fetal akinesia deformation sequence 3, MIM# 618389","entity_name":"DOK7","entity_type":"gene"},{"created":"2021-06-13T18:33:25.548275+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DOK7 were set to ","entity_name":"DOK7","entity_type":"gene"},{"created":"2021-06-13T18:31:50.120552+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DOK7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOK7","entity_type":"gene"},{"created":"2021-06-13T18:31:27.180070+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DOK7: Rating: GREEN; Mode of pathogenicity: None; Publications: 19261599, 31880392; Phenotypes: Fetal akinesia deformation sequence 3, MIM# 618389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOK7","entity_type":"gene"},{"created":"2021-06-13T18:04:48.218527+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7961","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TPM2 as ready","entity_name":"TPM2","entity_type":"gene"},{"created":"2021-06-13T18:04:48.208174+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7961","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tpm2 has been classified as Green List (High Evidence).","entity_name":"TPM2","entity_type":"gene"},{"created":"2021-06-13T18:04:39.375677+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7961","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TPM2 were changed from  to Arthrogryposis, distal, type 1A 108120; Arthrogryposis, distal, type 2B4 108120; CAP myopathy 2 609285; Nemaline myopathy 4, autosomal dominant 609285; Multiple pterygium syndrome","entity_name":"TPM2","entity_type":"gene"},{"created":"2021-06-13T18:04:22.223834+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7960","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TPM2 were set to ","entity_name":"TPM2","entity_type":"gene"},{"created":"2021-06-13T18:04:02.199072+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7959","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TPM2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TPM2","entity_type":"gene"},{"created":"2021-06-13T18:03:43.895922+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7958","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TPM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32092148, 27726070, 32092148, 24692096; Phenotypes: Arthrogryposis, distal, type 1A 108120, Arthrogryposis, distal, type 2B4 108120, CAP myopathy 2 609285, Nemaline myopathy 4, autosomal dominant 609285, Multiple pterygium syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TPM2","entity_type":"gene"},{"created":"2021-06-13T17:58:21.739596+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TPM2 as ready","entity_name":"TPM2","entity_type":"gene"},{"created":"2021-06-13T17:58:21.724513+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tpm2 has been classified as Green List (High Evidence).","entity_name":"TPM2","entity_type":"gene"},{"created":"2021-06-13T17:57:30.449157+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TPM2 as Green List (high evidence)","entity_name":"TPM2","entity_type":"gene"},{"created":"2021-06-13T17:57:30.439381+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tpm2 has been classified as Green List (High Evidence).","entity_name":"TPM2","entity_type":"gene"},{"created":"2021-06-13T17:56:05.182430+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TPM2 was added\ngene: TPM2 was added to Multiple pterygium syndrome. Sources: Literature\nMode of inheritance for gene: TPM2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: TPM2 were set to 33558124; 32092148\nPhenotypes for gene: TPM2 were set to Multiple pterygium syndrome\nReview for gene: TPM2 was set to GREEN\nAdded comment: Mono-allelic variants: three unrelated individuals reported with more severe multiple pterygium phenotype and recurrent missense, demonstrated de novo in two PMID 32092148.\r\n\r\nPMID 33558124: fetus with multiple pterygium syndrome and homozygous canonical splice site variant. This is the second report of bi-allelic disease, the previously reported individual presented with congenital myopathy. \nSources: Literature","entity_name":"TPM2","entity_type":"gene"},{"created":"2021-06-13T17:33:08.724015+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COLQ as ready","entity_name":"COLQ","entity_type":"gene"},{"created":"2021-06-13T17:33:08.712122+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: colq has been classified as Amber List (Moderate Evidence).","entity_name":"COLQ","entity_type":"gene"},{"created":"2021-06-13T17:32:48.947104+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COLQ were changed from  to Myasthenic syndrome, congenital, 5, MIM# 603034","entity_name":"COLQ","entity_type":"gene"},{"created":"2021-06-13T17:32:27.763249+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COLQ were set to ","entity_name":"COLQ","entity_type":"gene"},{"created":"2021-06-13T17:32:06.344614+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COLQ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"COLQ","entity_type":"gene"},{"created":"2021-06-13T17:31:19.755350+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COLQ as Amber List (moderate evidence)","entity_name":"COLQ","entity_type":"gene"},{"created":"2021-06-13T17:31:19.746540+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: colq has been classified as Amber List (Moderate Evidence).","entity_name":"COLQ","entity_type":"gene"},{"created":"2021-06-13T17:30:50.577228+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COLQ: Rating: AMBER; Mode of pathogenicity: None; Publications: 9689136, 9758617, 11865139, 32978031, 31831253; Phenotypes: Myasthenic syndrome, congenital, 5, MIM# 603034; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COLQ","entity_type":"gene"},{"created":"2021-06-13T17:28:55.586037+10:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHRNG were changed from Multiple pterygium syndrome, lethal type, MIM# 253290; fetal akinesia deformation sequence syndrome/FADS; multiple pterygium syndrome/MPS; Neonatal congenital myasthenia; escobar syndrome; Myasthenia gravis, neonatal transient to Multiple pterygium syndrome, lethal type, MIM# 253290; fetal akinesia deformation sequence syndrome/FADS; Neonatal congenital myasthenia; Escobar syndrome; Myasthenia gravis, neonatal transient","entity_name":"CHRNG","entity_type":"gene"},{"created":"2021-06-13T17:27:53.272190+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7958","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHRNG as ready","entity_name":"CHRNG","entity_type":"gene"},{"created":"2021-06-13T17:27:53.261078+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7958","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chrng has been classified as Green List (High Evidence).","entity_name":"CHRNG","entity_type":"gene"},{"created":"2021-06-13T17:27:45.633442+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7958","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHRNG were changed from  to Escobar syndrome, MIM# 265000; Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009926; MONDO:0009668","entity_name":"CHRNG","entity_type":"gene"},{"created":"2021-06-13T17:27:26.255672+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7957","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CHRNG were set to ","entity_name":"CHRNG","entity_type":"gene"},{"created":"2021-06-13T17:27:08.953441+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7956","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CHRNG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHRNG","entity_type":"gene"},{"created":"2021-06-13T17:26:50.264403+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7955","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CHRNG: Rating: GREEN; Mode of pathogenicity: None; Publications: 16826520, 16826531, 22167768; Phenotypes: Escobar syndrome, MIM# 265000, Multiple pterygium syndrome, lethal type, MIM# 253290, MONDO:0009926, MONDO:0009668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHRNG","entity_type":"gene"},{"created":"2021-06-13T17:26:16.750789+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.277","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHRNG as ready","entity_name":"CHRNG","entity_type":"gene"},{"created":"2021-06-13T17:26:16.739784+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.277","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chrng has been classified as Green List (High Evidence).","entity_name":"CHRNG","entity_type":"gene"},{"created":"2021-06-13T17:26:14.062255+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.277","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHRNG were changed from  to Escobar syndrome, MIM# 265000; Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009926; MONDO:0009668","entity_name":"CHRNG","entity_type":"gene"},{"created":"2021-06-13T17:25:50.549885+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.276","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CHRNG were set to ","entity_name":"CHRNG","entity_type":"gene"},{"created":"2021-06-13T17:25:00.927438+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.275","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CHRNG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHRNG","entity_type":"gene"},{"created":"2021-06-13T17:24:31.558293+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.274","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CHRNG: Rating: GREEN; Mode of pathogenicity: None; Publications: 16826520, 16826531, 22167768; Phenotypes: Escobar syndrome, MIM# 265000, Multiple pterygium syndrome, lethal type, MIM# 253290, MONDO:0009926, MONDO:0009668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHRNG","entity_type":"gene"},{"created":"2021-06-13T17:24:03.470674+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHRNG as ready","entity_name":"CHRNG","entity_type":"gene"},{"created":"2021-06-13T17:24:03.458442+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chrng has been classified as Green List (High Evidence).","entity_name":"CHRNG","entity_type":"gene"},{"created":"2021-06-13T17:23:44.133924+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHRNG were changed from  to Escobar syndrome, MIM# 265000; Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009926; MONDO:0009668","entity_name":"CHRNG","entity_type":"gene"},{"created":"2021-06-13T17:23:15.374885+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CHRNG were set to ","entity_name":"CHRNG","entity_type":"gene"},{"created":"2021-06-13T17:22:53.374301+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CHRNG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHRNG","entity_type":"gene"},{"created":"2021-06-13T17:22:24.344585+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CHRNG: Rating: GREEN; Mode of pathogenicity: None; Publications: 16826520, 16826531, 22167768; Phenotypes: Escobar syndrome, MIM# 265000, Multiple pterygium syndrome, lethal type, MIM# 253290, MONDO:0009926, MONDO:0009668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHRNG","entity_type":"gene"},{"created":"2021-06-13T16:15:41.212253+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7955","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CD207 as ready","entity_name":"CD207","entity_type":"gene"},{"created":"2021-06-13T16:15:41.201310+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7955","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cd207 has been classified as Red List (Low Evidence).","entity_name":"CD207","entity_type":"gene"},{"created":"2021-06-13T16:15:33.911457+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7955","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CD207 were changed from  to Birbeck granule deficiency, MIM# 613393","entity_name":"CD207","entity_type":"gene"},{"created":"2021-06-13T16:15:13.760386+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7954","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CD207 were set to ","entity_name":"CD207","entity_type":"gene"},{"created":"2021-06-13T16:14:56.473970+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7953","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CD207 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CD207","entity_type":"gene"},{"created":"2021-06-13T16:14:37.744801+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7952","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CD207 as Red List (low evidence)","entity_name":"CD207","entity_type":"gene"},{"created":"2021-06-13T16:14:37.733275+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7952","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cd207 has been classified as Red List (Low Evidence).","entity_name":"CD207","entity_type":"gene"},{"created":"2021-06-13T16:14:20.414571+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7951","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CD207: Rating: RED; Mode of pathogenicity: None; Publications: 15816828; Phenotypes: Birbeck granule deficiency, MIM# 613393; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CD207","entity_type":"gene"},{"created":"2021-06-13T16:11:08.918216+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7951","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF17 as ready","entity_name":"KIF17","entity_type":"gene"},{"created":"2021-06-13T16:11:08.908504+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7951","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif17 has been classified as Red List (Low Evidence).","entity_name":"KIF17","entity_type":"gene"},{"created":"2021-06-13T16:10:59.614286+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7951","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KIF17 was added\ngene: KIF17 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KIF17 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF17 were set to 33922911; 30458707; 28341548\nPhenotypes for gene: KIF17 were set to Microphthalmia; Coloboma\nReview for gene: KIF17 was set to RED\nAdded comment: Two siblings reported with MAC spectrum and homozygous missense variant in this gene. Some pre-existing data linking KIF17 to eye development. \nSources: Literature","entity_name":"KIF17","entity_type":"gene"},{"created":"2021-06-13T16:05:59.653768+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF17 as ready","entity_name":"KIF17","entity_type":"gene"},{"created":"2021-06-13T16:05:59.641209+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif17 has been classified as Red List (Low Evidence).","entity_name":"KIF17","entity_type":"gene"},{"created":"2021-06-13T16:05:50.410692+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KIF17 was added\ngene: KIF17 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature\nMode of inheritance for gene: KIF17 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF17 were set to 33922911; 30458707; 28341548\nPhenotypes for gene: KIF17 were set to Microphthalmia; Coloboma\nReview for gene: KIF17 was set to RED\nAdded comment: Two siblings reported with MAC spectrum and homozygous missense variant in this gene. Some pre-existing data linking KIF17 to eye development. \nSources: Literature","entity_name":"KIF17","entity_type":"gene"},{"created":"2021-06-13T15:58:12.045345+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7950","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SASH3 as ready","entity_name":"SASH3","entity_type":"gene"},{"created":"2021-06-13T15:58:12.035959+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7950","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sash3 has been classified as Green List (High Evidence).","entity_name":"SASH3","entity_type":"gene"},{"created":"2021-06-13T15:58:03.838276+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7950","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SASH3 as Green List (high evidence)","entity_name":"SASH3","entity_type":"gene"},{"created":"2021-06-13T15:58:03.827639+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7950","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sash3 has been classified as Green List (High Evidence).","entity_name":"SASH3","entity_type":"gene"},{"created":"2021-06-13T15:57:48.547266+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7949","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SASH3 was added\ngene: SASH3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SASH3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SASH3 were set to 33876203\nPhenotypes for gene: SASH3 were set to Combined immunodeficiency; immune dysregulation\nReview for gene: SASH3 was set to GREEN\nAdded comment: Four unrelated males reported presenting with combined immunodeficiency and immune dysregulation manifesting as recurrent sinopulmonary, cutaneous and mucosal infections, and refractory autoimmune cytopaenias. One missense variant, rest were nonsense. \nSources: Literature","entity_name":"SASH3","entity_type":"gene"},{"created":"2021-06-13T15:56:17.316457+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SASH3 as ready","entity_name":"SASH3","entity_type":"gene"},{"created":"2021-06-13T15:56:17.307187+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sash3 has been classified as Green List (High Evidence).","entity_name":"SASH3","entity_type":"gene"},{"created":"2021-06-13T15:56:14.426265+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SASH3 as Green List (high evidence)","entity_name":"SASH3","entity_type":"gene"},{"created":"2021-06-13T15:56:14.417252+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sash3 has been classified as Green List (High Evidence).","entity_name":"SASH3","entity_type":"gene"},{"created":"2021-06-13T15:55:46.123299+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SASH3 was added\ngene: SASH3 was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: SASH3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SASH3 were set to 33876203\nPhenotypes for gene: SASH3 were set to Combined immunodeficiency; immune dysregulation\nReview for gene: SASH3 was set to GREEN\nAdded comment: Four unrelated males reported presenting with combined immunodeficiency and immune dysregulation manifesting as recurrent sinopulmonary, cutaneous and mucosal infections, and refractory autoimmune cytopaenias. One missense variant, rest were nonsense. \nSources: Literature","entity_name":"SASH3","entity_type":"gene"},{"created":"2021-06-13T15:54:18.558771+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SASH3 as ready","entity_name":"SASH3","entity_type":"gene"},{"created":"2021-06-13T15:54:18.549179+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sash3 has been classified as Green List (High Evidence).","entity_name":"SASH3","entity_type":"gene"},{"created":"2021-06-13T15:54:01.327642+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SASH3 as Green List (high evidence)","entity_name":"SASH3","entity_type":"gene"},{"created":"2021-06-13T15:54:01.317701+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sash3 has been classified as Green List (High Evidence).","entity_name":"SASH3","entity_type":"gene"},{"created":"2021-06-13T15:53:21.390474+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.196","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SASH3 was added\ngene: SASH3 was added to Combined Immunodeficiency. Sources: Literature\nMode of inheritance for gene: SASH3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SASH3 were set to 33876203\nPhenotypes for gene: SASH3 were set to Combined immunodeficiency; immune dysregulation\nReview for gene: SASH3 was set to GREEN\nAdded comment: Four unrelated males reported presenting with combined immunodeficiency and immune dysregulation manifesting as recurrent sinopulmonary, cutaneous and mucosal infections, and refractory autoimmune cytopaenias. One missense variant, rest were nonsense. \nSources: Literature","entity_name":"SASH3","entity_type":"gene"},{"created":"2021-06-13T14:59:14.924379+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHRNE as ready","entity_name":"CHRNE","entity_type":"gene"},{"created":"2021-06-13T14:59:14.914956+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chrne has been classified as Amber List (Moderate Evidence).","entity_name":"CHRNE","entity_type":"gene"},{"created":"2021-06-13T14:59:12.607811+10:00","panel_name":"Multiple pterygium syndrome","panel_id":139,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHRNE were changed from  to Congenital myasthenia, multiple types","entity_name":"CHRNE","entity_type":"gene"}]}