{"count":220423,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=57","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=55","results":[{"created":"2026-01-19T16:57:41.031660+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufa3 has been classified as Green List (High Evidence).","entity_name":"NDUFA3","entity_type":"gene"},{"created":"2026-01-19T16:57:10.035712+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NDUFA3: Added comment: Third unrelated family reported in PMID 41404351, intronic variants with abnormal splicing demonstrated.; Changed rating: GREEN; Changed publications: 41038977, 39661167, 41404351","entity_name":"NDUFA3","entity_type":"gene"},{"created":"2026-01-19T16:56:48.607746+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4086","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFA3 were set to 41038977; 39661167","entity_name":"NDUFA3","entity_type":"gene"},{"created":"2026-01-19T16:56:16.749190+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4085","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NDUFA3 as Green List (high evidence)","entity_name":"NDUFA3","entity_type":"gene"},{"created":"2026-01-19T16:56:16.742371+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4085","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufa3 has been classified as Green List (High Evidence).","entity_name":"NDUFA3","entity_type":"gene"},{"created":"2026-01-19T16:56:04.293359+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4084","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NDUFA3: Added comment: Third unrelated family reported in PMID 41404351, intronic variants with abnormal splicing demonstrated.; Changed rating: GREEN; Changed publications: 41038977, 39661167, 41404351","entity_name":"NDUFA3","entity_type":"gene"},{"created":"2026-01-19T13:54:50.143630+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4084","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: G6PC as ready","entity_name":"G6PC","entity_type":"gene"},{"created":"2026-01-19T13:54:50.139161+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4084","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: HGNC approved name is G6PC1.","entity_name":"G6PC","entity_type":"gene"},{"created":"2026-01-19T13:54:50.120052+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4084","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: g6pc has been classified as Green List (High Evidence).","entity_name":"G6PC","entity_type":"gene"},{"created":"2026-01-19T13:54:22.719128+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4084","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: G6PC.","entity_name":"G6PC","entity_type":"gene"},{"created":"2026-01-19T13:12:53.923431+11:00","panel_name":"Hypertrophic cardiomyopathy","panel_id":111,"panel_version":"1.22","user_name":"Zornitza Stark","item_type":"panel","text":"Panel name changed from Hypertrophic cardiomyopathy_HCM to Hypertrophic cardiomyopathy","entity_name":null,"entity_type":null},{"created":"2026-01-19T12:06:15.514229+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.396","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: MIR17HG.","entity_name":"MIR17HG","entity_type":"gene"},{"created":"2026-01-19T12:06:08.720572+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.396","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MIR17HG as Amber List (moderate evidence)","entity_name":"MIR17HG","entity_type":"gene"},{"created":"2026-01-19T12:06:08.710647+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.396","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mir17hg has been classified as Amber List (Moderate Evidence).","entity_name":"MIR17HG","entity_type":"gene"},{"created":"2026-01-19T12:05:44.903132+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: 4 unrelated cases reported - 3 with gene deletions, 1 with SNV \nSources: Expert list; to: 4 unrelated cases reported - 3 with gene deletions, 1 with SNV. The deletions include portion of GPC5 as well.\r\nSources: Expert list","entity_name":"MIR17HG","entity_type":"gene"},{"created":"2026-01-19T12:05:24.832115+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MIR17HG: Changed rating: AMBER; Changed publications: 25391829, 21892160, 29636449","entity_name":"MIR17HG","entity_type":"gene"},{"created":"2026-01-19T12:05:11.769708+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.609","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MIR17HG were set to PMID: 25391829; 21892160","entity_name":"MIR17HG","entity_type":"gene"},{"created":"2026-01-19T12:04:33.190721+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.608","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MIR17HG as Amber List (moderate evidence)","entity_name":"MIR17HG","entity_type":"gene"},{"created":"2026-01-19T12:04:33.183212+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.608","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mir17hg has been classified as Amber List (Moderate Evidence).","entity_name":"MIR17HG","entity_type":"gene"},{"created":"2026-01-19T12:04:02.225325+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.607","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: 4 unrelated cases reported - 3 with gene deletions, 1 with SNV. \nSources: Expert list; to: 4 unrelated cases reported - 3 with gene deletions, 1 with SNV. The deletions include portion of GPC5 as well.\r\nSources: Expert list","entity_name":"MIR17HG","entity_type":"gene"},{"created":"2026-01-19T12:03:47.192451+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.607","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MIR17HG: Added comment: Multiple mouse models.; Changed publications: 25391829, 21892160, 29636449","entity_name":"MIR17HG","entity_type":"gene"},{"created":"2026-01-19T12:02:34.235370+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4084","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MIR17HG as Amber List (moderate evidence)","entity_name":"MIR17HG","entity_type":"gene"},{"created":"2026-01-19T12:02:34.224689+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4084","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mir17hg has been classified as Amber List (Moderate Evidence).","entity_name":"MIR17HG","entity_type":"gene"},{"created":"2026-01-19T12:02:19.359973+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4083","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: 4 unrelated cases reported - 3 with gene deletions, 1 with SNV \nSources: Expert list; to: 4 unrelated cases reported - 3 with gene deletions, 1 with SNV. The deletions include portion of GPC5 as well.\r\nSources: Expert list","entity_name":"MIR17HG","entity_type":"gene"},{"created":"2026-01-19T12:01:40.708042+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4083","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MIR17HG: Changed rating: AMBER","entity_name":"MIR17HG","entity_type":"gene"},{"created":"2026-01-19T12:01:28.555417+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4083","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: MIR17HG.","entity_name":"MIR17HG","entity_type":"gene"},{"created":"2026-01-19T12:01:12.708769+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4083","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MIR17HG: Added comment: Multiple mouse models.; Changed publications: 25391829, 21892160, 29636449","entity_name":"MIR17HG","entity_type":"gene"},{"created":"2026-01-19T11:58:05.954201+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MIR140 as Amber List (moderate evidence)","entity_name":"MIR140","entity_type":"gene"},{"created":"2026-01-19T11:58:05.944734+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.395","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mir140 has been classified as Amber List (Moderate Evidence).","entity_name":"MIR140","entity_type":"gene"},{"created":"2026-01-19T11:57:41.562140+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.394","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MIR140: Added comment: LIMITED by ClinGen.; Changed rating: AMBER; Changed phenotypes: Spondyloepiphyseal dysplasia, Nishimura type, MIM# 618618","entity_name":"MIR140","entity_type":"gene"},{"created":"2026-01-19T11:57:20.567459+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4083","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MIR140 as Amber List (moderate evidence)","entity_name":"MIR140","entity_type":"gene"},{"created":"2026-01-19T11:57:20.555422+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4083","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mir140 has been classified as Amber List (Moderate Evidence).","entity_name":"MIR140","entity_type":"gene"},{"created":"2026-01-19T11:56:00.041140+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4082","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MIR140: Added comment: LIMITED by ClinGen.; Changed rating: AMBER; Changed phenotypes: Spondyloepiphyseal dysplasia, Nishimura type, MIM# 618618","entity_name":"MIR140","entity_type":"gene"},{"created":"2026-01-19T11:53:11.532514+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.607","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BAIAP2 were changed from BAIAP2-related complex neurodevelopmental disorder MONDO:0100038 to Developmental and epileptic encephalopathy 120, MIM# 621468","entity_name":"BAIAP2","entity_type":"gene"},{"created":"2026-01-19T11:52:18.196617+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.606","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BAIAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 120, MIM# 621468; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"BAIAP2","entity_type":"gene"},{"created":"2026-01-19T11:51:51.974335+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.355","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BAIAP2 were changed from BAIAP2-related complex neurodevelopmental disorder MONDO:0100038 to Developmental and epileptic encephalopathy 120, MIM# 621468","entity_name":"BAIAP2","entity_type":"gene"},{"created":"2026-01-19T11:51:21.948578+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.354","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BAIAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 120, MIM# 621468; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"BAIAP2","entity_type":"gene"},{"created":"2026-01-19T11:51:00.243782+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4082","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BAIAP2 were changed from BAIAP2-related complex neurodevelopmental disorder MONDO:0100038 to Developmental and epileptic encephalopathy 120, MIM# 621468","entity_name":"BAIAP2","entity_type":"gene"},{"created":"2026-01-19T11:50:38.707551+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4081","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BAIAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 120, MIM# 621468; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"BAIAP2","entity_type":"gene"},{"created":"2026-01-19T11:50:17.583953+11:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"1.30","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BAIAP2 were changed from BAIAP2-related complex neurodevelopmental disorder MONDO:0100038 to Developmental and epileptic encephalopathy 120, MIM# 621468","entity_name":"BAIAP2","entity_type":"gene"},{"created":"2026-01-19T11:49:45.170768+11:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BAIAP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 120, MIM# 621468; Mode of inheritance: None","entity_name":"BAIAP2","entity_type":"gene"},{"created":"2026-01-16T17:25:25.717732+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4081","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYO9B were set to 16720215; 16423886; 16282976","entity_name":"MYO9B","entity_type":"gene"},{"created":"2026-01-16T17:25:01.179616+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4080","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MYO9B: Rating: AMBER; Mode of pathogenicity: None; Publications: 40382695; Phenotypes: Charcot-Marie-Tooth disease type 2 (MONDO:0018993), MYO9B-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MYO9B","entity_type":"gene"},{"created":"2026-01-16T12:00:12.302953+11:00","panel_name":"Transplant Co-Morbidity","panel_id":4126,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: JUP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"JUP","entity_type":"gene"},{"created":"2026-01-16T11:59:53.903310+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.280","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: JUP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal","entity_name":"JUP","entity_type":"gene"},{"created":"2026-01-16T11:59:35.363676+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.217","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: JUP as ready","entity_name":"JUP","entity_type":"gene"},{"created":"2026-01-16T11:59:35.355559+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.217","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jup has been classified as Green List (High Evidence).","entity_name":"JUP","entity_type":"gene"},{"created":"2026-01-16T11:59:33.532531+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.217","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: JUP were changed from Arrhythmogenic right ventricular dysplasia 12 to Arrhythmogenic right ventricular dysplasia 12, MIM# 611528; Naxos disease, MIM# 601214","entity_name":"JUP","entity_type":"gene"},{"created":"2026-01-16T11:59:22.296364+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: JUP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"JUP","entity_type":"gene"},{"created":"2026-01-16T11:59:12.838985+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.215","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 12, MIM# 611528, Naxos disease, MIM# 601214; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"JUP","entity_type":"gene"},{"created":"2026-01-16T11:58:44.081673+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: JUP as ready","entity_name":"JUP","entity_type":"gene"},{"created":"2026-01-16T11:58:44.074899+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jup has been classified as Green List (High Evidence).","entity_name":"JUP","entity_type":"gene"},{"created":"2026-01-16T11:58:42.211758+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: JUP were changed from Arrhythmogenic right ventricular dysplasia, Naxos disease to Arrhythmogenic right ventricular dysplasia 12, MIM# 611528; Naxos disease, MIM# 601214","entity_name":"JUP","entity_type":"gene"},{"created":"2026-01-16T11:58:31.303563+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: JUP were set to ","entity_name":"JUP","entity_type":"gene"},{"created":"2026-01-16T11:58:21.809226+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: JUP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"JUP","entity_type":"gene"},{"created":"2026-01-16T11:58:13.849888+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Association between mono-allelic variants and ARVC: DEFINITIVE by ClinGen.\r\n\r\nAssociation between bi-allelic variants and Naxos: more than 5 unrelated families reported.; to: Association between bi-allelic variants and ARVC/Naxos: DEFINITIVE by ClinGen.\r\n","entity_name":"JUP","entity_type":"gene"},{"created":"2026-01-16T11:57:53.958395+11:00","panel_name":"Ectodermal Dysplasia","panel_id":3089,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: JUP: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"JUP","entity_type":"gene"},{"created":"2026-01-16T11:57:34.440834+11:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.131","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: JUP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"JUP","entity_type":"gene"},{"created":"2026-01-16T11:57:23.733053+11:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"1.130","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: JUP: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"JUP","entity_type":"gene"},{"created":"2026-01-16T11:57:02.942615+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4080","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: JUP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"JUP","entity_type":"gene"},{"created":"2026-01-16T11:55:36.668939+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4079","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Association between mono-allelic variants and ARVC: DEFINITIVE by ClinGen.\r\n\r\nAssociation between bi-allelic variants and Naxos: more than 5 unrelated families reported.; to: Association between bi-allelic variants and ARVC/Naxos: DEFINITIVE by ClinGen.\r\n","entity_name":"JUP","entity_type":"gene"},{"created":"2026-01-16T11:55:12.579241+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4079","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: JUP: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"JUP","entity_type":"gene"},{"created":"2026-01-16T11:54:55.043635+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: JUP as ready","entity_name":"JUP","entity_type":"gene"},{"created":"2026-01-16T11:54:55.031399+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jup has been classified as Green List (High Evidence).","entity_name":"JUP","entity_type":"gene"},{"created":"2026-01-16T11:54:28.966252+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: JUP were changed from  to Arrhythmogenic right ventricular dysplasia 12, MIM# 611528; Naxos disease, MIM# 601214","entity_name":"JUP","entity_type":"gene"},{"created":"2026-01-16T11:53:46.441889+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: JUP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"JUP","entity_type":"gene"},{"created":"2026-01-16T11:53:20.554351+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Association between mono-allelic variants and ARVC: DEFINITIVE by ClinGen.\r\n\r\nAssociation between bi-allelic variants and Naxos: more than 5 unrelated families reported.; to: Association between bi-allelic variants and ARVC/Naxos disease: DEFINITIVE by ClinGen.\r\n","entity_name":"JUP","entity_type":"gene"},{"created":"2026-01-16T11:52:52.950358+11:00","panel_name":"Desmosomal disorders","panel_id":97,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: JUP: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"JUP","entity_type":"gene"},{"created":"2026-01-16T11:49:55.704792+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.55","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: JUP: Changed rating: AMBER; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"JUP","entity_type":"gene"},{"created":"2026-01-16T11:49:40.012201+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.55","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: JUP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"JUP","entity_type":"gene"},{"created":"2026-01-16T11:48:37.234902+11:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: JUP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"JUP","entity_type":"gene"},{"created":"2026-01-16T11:48:10.013220+11:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: DEFINITIVE by ClinGen.; to: DEFINITIVE by ClinGen for the biallelic association.\r\n\r\nLimited evidence for mono allelic association.","entity_name":"JUP","entity_type":"gene"},{"created":"2026-01-16T11:47:50.511214+11:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: JUP: Changed phenotypes: Naxos disease, MIM# 601214, Arrhythmogenic right ventricular dysplasia 12, MIM# 611528; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"JUP","entity_type":"gene"},{"created":"2026-01-16T10:28:08.071249+11:00","panel_name":"Familial hypoparathyroidism","panel_id":3894,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2026-01-16T09:53:58.903289+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.606","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCAMP5 were changed from Intellectual disability; seizures; autism to Neurodevelopmental disorder, MONDO:0700092, SCAMP5-related","entity_name":"SCAMP5","entity_type":"gene"},{"created":"2026-01-16T09:53:26.674208+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.605","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SCAMP5: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, SCAMP5-related","entity_name":"SCAMP5","entity_type":"gene"},{"created":"2026-01-16T09:53:03.726874+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.354","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCAMP5 were changed from Intellectual disability; seizures; autism to Neurodevelopmental disorder, MONDO:0700092, SCAMP5-related","entity_name":"SCAMP5","entity_type":"gene"},{"created":"2026-01-16T09:52:28.646392+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.353","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SCAMP5: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, SCAMP5-related","entity_name":"SCAMP5","entity_type":"gene"},{"created":"2026-01-16T09:52:04.811708+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4079","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCAMP5 were changed from Intellectual disability; seizures; autism to Neurodevelopmental disorder, MONDO:0700092, SCAMP5-related","entity_name":"SCAMP5","entity_type":"gene"},{"created":"2026-01-16T09:51:31.397687+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4078","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SCAMP5: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, SCAMP5-related","entity_name":"SCAMP5","entity_type":"gene"},{"created":"2026-01-15T16:30:21.271320+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.605","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COPB1 were changed from Baralle-Macken syndrome, MIM# 619255; Severe intellectual disability; variable microcephaly; cataracts to Baralle-Macken syndrome, MIM# 619255","entity_name":"COPB1","entity_type":"gene"},{"created":"2026-01-15T16:29:47.531565+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.604","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COPB1 were set to 33632302","entity_name":"COPB1","entity_type":"gene"},{"created":"2026-01-15T16:28:59.435344+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.603","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COPB1 as Green List (high evidence)","entity_name":"COPB1","entity_type":"gene"},{"created":"2026-01-15T16:28:59.427063+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.603","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: copb1 has been classified as Green List (High Evidence).","entity_name":"COPB1","entity_type":"gene"},{"created":"2026-01-15T16:28:29.534816+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.602","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: COPB1: Added comment: PMID 40396222 adds two siblings from a consanguineous Pakistani family with a homozygous missense variant c.2693G>T (p.Arg898Leu) and consistent phenotype. Combined evidence comprises eight patients from three unrelated families, loss‑of‑function mechanism, and functional validation including splice disruption, Xenopus CRISPR modelling, protein stability/Golgi localisation assays, and in silico structural modeling.; Changed rating: GREEN; Changed publications: 33632302, 40396222; Changed phenotypes: Baralle-Macken syndrome, MIM# 619255","entity_name":"COPB1","entity_type":"gene"},{"created":"2026-01-15T16:28:03.936884+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.537","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COPB1 were changed from Baralle-Macken syndrome, MIM#\t619255; Severe intellectual disability; variable microcephaly; cataracts to Baralle-Macken syndrome, MIM#\t619255","entity_name":"COPB1","entity_type":"gene"},{"created":"2026-01-15T16:27:36.673684+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.536","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COPB1 were set to 33632302","entity_name":"COPB1","entity_type":"gene"},{"created":"2026-01-15T16:27:07.510430+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.535","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: COPB1: Added comment: PMID 40396222 adds two siblings from a consanguineous Pakistani family with a homozygous missense variant c.2693G>T (p.Arg898Leu) and consistent phenotype. Combined evidence comprises eight patients from three unrelated families, loss‑of‑function mechanism, and functional validation including splice disruption, Xenopus CRISPR modelling, protein stability/Golgi localisation assays, and in silico structural modeling.; Changed publications: 33632302, 40396222; Changed phenotypes: Baralle-Macken syndrome, MIM# 619255","entity_name":"COPB1","entity_type":"gene"},{"created":"2026-01-15T16:26:39.179419+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.535","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: COPB1: Changed rating: GREEN","entity_name":"COPB1","entity_type":"gene"},{"created":"2026-01-15T16:26:31.611275+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.535","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COPB1 as Green List (high evidence)","entity_name":"COPB1","entity_type":"gene"},{"created":"2026-01-15T16:26:31.601800+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.535","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: copb1 has been classified as Green List (High Evidence).","entity_name":"COPB1","entity_type":"gene"},{"created":"2026-01-15T16:26:04.719306+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4078","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COPB1 as Green List (high evidence)","entity_name":"COPB1","entity_type":"gene"},{"created":"2026-01-15T16:26:04.704191+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4078","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: copb1 has been classified as Green List (High Evidence).","entity_name":"COPB1","entity_type":"gene"},{"created":"2026-01-15T16:25:49.917879+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.4077","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: COPB1: Added comment: PMID 40396222 adds two siblings from a consanguineous Pakistani family with a homozygous missense variant c.2693G>T (p.Arg898Leu) and consistent phenotype. Combined evidence comprises eight patients from three unrelated families, loss‑of‑function mechanism, and functional validation including splice disruption, Xenopus CRISPR modelling, protein stability/Golgi localisation assays, and in silico structural modeling.; Changed rating: GREEN; Changed publications: 40396222, 33632302; Changed phenotypes: Baralle-Macken syndrome, MIM# 619255","entity_name":"COPB1","entity_type":"gene"},{"created":"2026-01-15T16:22:43.749858+11:00","panel_name":"Leukodystrophy","panel_id":298,"panel_version":"0.392","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CNP were set to 32128616; 12590258","entity_name":"CNP","entity_type":"gene"},{"created":"2026-01-15T16:22:27.432933+11:00","panel_name":"Leukodystrophy","panel_id":298,"panel_version":"0.391","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CNP as Green List (high evidence)","entity_name":"CNP","entity_type":"gene"},{"created":"2026-01-15T16:22:27.425510+11:00","panel_name":"Leukodystrophy","panel_id":298,"panel_version":"0.391","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cnp has been classified as Green List (High Evidence).","entity_name":"CNP","entity_type":"gene"},{"created":"2026-01-15T16:22:12.873609+11:00","panel_name":"Leukodystrophy","panel_id":298,"panel_version":"0.390","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CNP: Added comment: PMID 40396300 adds two affected siblings from an independent consanguineous family with a homozygous nonsense CNP variant (p.Glu99*) resulting in hypomyelinating leukodystrophy type 20.; Changed rating: GREEN; Changed publications: 40396300","entity_name":"CNP","entity_type":"gene"},{"created":"2026-01-15T16:21:31.787376+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.602","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CNP as ready","entity_name":"CNP","entity_type":"gene"},{"created":"2026-01-15T16:21:31.778180+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.602","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cnp has been classified as Green List (High Evidence).","entity_name":"CNP","entity_type":"gene"}]}