{"count":220694,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=129","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=127","results":[{"created":"2025-11-18T12:29:09.086764+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.540","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX14 as ready","entity_name":"PEX14","entity_type":"gene"},{"created":"2025-11-18T12:29:09.079571+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.540","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex14 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX14","entity_type":"gene"},{"created":"2025-11-18T12:29:05.307401+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.540","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PEX14 were changed from  to Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876","entity_name":"PEX14","entity_type":"gene"},{"created":"2025-11-18T12:28:41.003678+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.539","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PEX14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX14","entity_type":"gene"},{"created":"2025-11-18T12:28:15.900009+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.538","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PEX14 as Amber List (moderate evidence)","entity_name":"PEX14","entity_type":"gene"},{"created":"2025-11-18T12:28:15.892596+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.538","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex14 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX14","entity_type":"gene"},{"created":"2025-11-18T12:27:45.118328+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.537","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PEX14: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX14","entity_type":"gene"},{"created":"2025-11-18T12:26:07.985147+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.537","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX13 as ready","entity_name":"PEX13","entity_type":"gene"},{"created":"2025-11-18T12:26:07.974814+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.537","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex13 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX13","entity_type":"gene"},{"created":"2025-11-18T12:26:05.502654+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.537","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PEX13 were changed from  to Peroxisome biogenesis disorder 11A (Zellweger) (MIM#614883)","entity_name":"PEX13","entity_type":"gene"},{"created":"2025-11-18T12:25:34.297721+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.536","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PEX13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX13","entity_type":"gene"},{"created":"2025-11-18T12:25:11.300508+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.535","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PEX13 as Amber List (moderate evidence)","entity_name":"PEX13","entity_type":"gene"},{"created":"2025-11-18T12:25:11.292800+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.535","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex13 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX13","entity_type":"gene"},{"created":"2025-11-18T12:24:42.240780+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.534","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PEX13: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 11A (Zellweger) (MIM#614883); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX13","entity_type":"gene"},{"created":"2025-11-18T12:23:14.606796+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.534","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PEX11B as Amber List (moderate evidence)","entity_name":"PEX11B","entity_type":"gene"},{"created":"2025-11-18T12:23:14.596906+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.534","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex11b has been classified as Amber List (Moderate Evidence).","entity_name":"PEX11B","entity_type":"gene"},{"created":"2025-11-18T12:22:49.266216+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.533","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Comment when marking as ready: Two published families and one internal. Contractures not specifically reported but included with Green rating for completeness together with other severe peroxisomal disorders.; to: Two published families and one internal. Contractures not specifically reported hence Amber rating given other severe peroxisomal disorders are reported with talipes.","entity_name":"PEX11B","entity_type":"gene"},{"created":"2025-11-18T12:22:10.133161+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.533","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PEX11B: Changed rating: AMBER","entity_name":"PEX11B","entity_type":"gene"},{"created":"2025-11-18T12:21:52.598216+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.533","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX12 as ready","entity_name":"PEX12","entity_type":"gene"},{"created":"2025-11-18T12:21:52.591006+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.533","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex12 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX12","entity_type":"gene"},{"created":"2025-11-18T12:21:50.704725+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.533","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PEX12 were changed from  to Peroxisome biogenesis disorder 3A (Zellweger) - MIM#614859","entity_name":"PEX12","entity_type":"gene"},{"created":"2025-11-18T12:21:27.905380+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.532","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PEX12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX12","entity_type":"gene"},{"created":"2025-11-18T12:21:08.979616+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.531","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PEX12 as Amber List (moderate evidence)","entity_name":"PEX12","entity_type":"gene"},{"created":"2025-11-18T12:21:08.972634+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.531","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex12 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX12","entity_type":"gene"},{"created":"2025-11-18T12:20:39.677405+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.530","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association, varus deformity reported but no specific reports of contractures/arthrogryposis.; to: Well established gene-disease association, varus deformity reported but no specific reports of contractures/arthrogryposis. Other severe peroxisomal disorders reported with talipes hence Amber rating.","entity_name":"PEX12","entity_type":"gene"},{"created":"2025-11-18T12:20:05.252673+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.530","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PEX12: Changed rating: AMBER","entity_name":"PEX12","entity_type":"gene"},{"created":"2025-11-18T12:19:56.694919+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.530","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association, varus deformity reported.; to: Well established gene-disease association, varus deformity reported but no specific reports of contractures/arthrogryposis.","entity_name":"PEX12","entity_type":"gene"},{"created":"2025-11-18T12:19:12.548791+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.530","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PEX12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 3A (Zellweger) - MIM#614859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX12","entity_type":"gene"},{"created":"2025-11-18T12:17:16.538881+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.530","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX11B as ready","entity_name":"PEX11B","entity_type":"gene"},{"created":"2025-11-18T12:17:16.531947+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.530","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex11b has been classified as Green List (High Evidence).","entity_name":"PEX11B","entity_type":"gene"},{"created":"2025-11-18T12:17:14.479380+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.530","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PEX11B were changed from  to Peroxisome biogenesis disorder 14B - MIM#614920","entity_name":"PEX11B","entity_type":"gene"},{"created":"2025-11-18T12:16:53.797775+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.529","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PEX11B were set to ","entity_name":"PEX11B","entity_type":"gene"},{"created":"2025-11-18T12:16:26.086582+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.528","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PEX11B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX11B","entity_type":"gene"},{"created":"2025-11-18T12:15:58.798983+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.527","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Comment when marking as ready: Two published families and one internal.; to: Comment when marking as ready: Two published families and one internal. Contractures not specifically reported but included with Green rating for completeness together with other severe peroxisomal disorders.","entity_name":"PEX11B","entity_type":"gene"},{"created":"2025-11-18T12:12:36.744516+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.527","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene PEX11B from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-18T12:10:38.293892+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3570","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Comment when marking as ready: Two published families and one International.; to: Comment when marking as ready: Two published families and one internal.","entity_name":"PEX11B","entity_type":"gene"},{"created":"2025-11-18T12:08:42.657006+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.526","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX10 as ready","entity_name":"PEX10","entity_type":"gene"},{"created":"2025-11-18T12:08:42.650231+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.526","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex10 has been classified as Green List (High Evidence).","entity_name":"PEX10","entity_type":"gene"},{"created":"2025-11-18T12:08:39.500613+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.526","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PEX10 were changed from  to Peroxisome biogenesis disorder 6A (Zellweger) MIM#614870","entity_name":"PEX10","entity_type":"gene"},{"created":"2025-11-18T12:08:09.880534+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.525","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PEX10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX10","entity_type":"gene"},{"created":"2025-11-18T12:07:44.976525+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.524","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 6A (Zellweger) 614870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX10","entity_type":"gene"},{"created":"2025-11-18T12:06:43.960593+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.524","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX1 as ready","entity_name":"PEX1","entity_type":"gene"},{"created":"2025-11-18T12:06:43.949671+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.524","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex1 has been classified as Green List (High Evidence).","entity_name":"PEX1","entity_type":"gene"},{"created":"2025-11-18T12:06:41.333152+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.524","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PEX1 were changed from  to Peroxisome biogenesis disorder 1A (Zellweger) MIM#214100","entity_name":"PEX1","entity_type":"gene"},{"created":"2025-11-18T12:06:13.767660+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.523","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PEX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX1","entity_type":"gene"},{"created":"2025-11-18T12:05:51.796321+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.522","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PEX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 1A (Zellweger) MIM#214100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX1","entity_type":"gene"},{"created":"2025-11-17T18:57:50.390877+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"2.15","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ORAI1 were changed from Immunodeficiency 9, MIM#612782; Myopathy, tubular aggregate, 2, MIM#615883 to Immunodeficiency 9, MIM#612782","entity_name":"ORAI1","entity_type":"gene"},{"created":"2025-11-17T18:57:36.400310+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"2.14","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ORAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 9, MIM#612782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ORAI1","entity_type":"gene"},{"created":"2025-11-17T18:56:02.820586+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.522","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ORAI1 as ready","entity_name":"ORAI1","entity_type":"gene"},{"created":"2025-11-17T18:56:02.809984+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.522","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: orai1 has been classified as Green List (High Evidence).","entity_name":"ORAI1","entity_type":"gene"},{"created":"2025-11-17T18:55:59.651665+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.522","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ORAI1 were changed from  to Myopathy, tubular aggregate, 2, MIM# 615883","entity_name":"ORAI1","entity_type":"gene"},{"created":"2025-11-17T18:55:30.665813+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.521","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ORAI1 were set to ","entity_name":"ORAI1","entity_type":"gene"},{"created":"2025-11-17T18:55:01.958335+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.520","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ORAI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ORAI1","entity_type":"gene"},{"created":"2025-11-17T18:54:33.243947+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.519","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence): - Dominant ORAI1 missense variants via a GOF mechanism cause a slowly progressive myopathy (tubular aggregate myopathy/TAM); to: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence): - Dominant ORAI1 missense variants via a GOF mechanism cause a slowly progressive myopathy (tubular aggregate myopathy/TAM)\r\n\r\nContractures are part of the phenotype, e.g. PMID 25227914","entity_name":"ORAI1","entity_type":"gene"},{"created":"2025-11-17T18:54:18.120506+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.519","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ORAI1: Changed publications: 31448844, 25227914","entity_name":"ORAI1","entity_type":"gene"},{"created":"2025-11-17T18:53:43.212344+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.519","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene ORAI1 from panel Muscular dystrophy and myopathy_Paediatric","entity_name":null,"entity_type":null},{"created":"2025-11-17T18:28:59.419897+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.152","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KLHL13 as ready","entity_name":"KLHL13","entity_type":"gene"},{"created":"2025-11-17T18:28:59.412575+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.152","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klhl13 has been classified as Green List (High Evidence).","entity_name":"KLHL13","entity_type":"gene"},{"created":"2025-11-17T18:28:21.288273+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.62","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:KLHL13 from the panel","entity_name":null,"entity_type":null},{"created":"2025-11-17T18:26:55.376061+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.110","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:KLHL13 from the panel","entity_name":null,"entity_type":null},{"created":"2025-11-17T18:24:58.909990+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.518","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYH8 as ready","entity_name":"MYH8","entity_type":"gene"},{"created":"2025-11-17T18:24:58.897531+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.518","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myh8 has been classified as Green List (High Evidence).","entity_name":"MYH8","entity_type":"gene"},{"created":"2025-11-17T18:24:56.236589+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.518","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYH8 were changed from  to Trismus-pseudocamptodactyly syndrome (MIM#158300)","entity_name":"MYH8","entity_type":"gene"},{"created":"2025-11-17T18:24:26.762368+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.517","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYH8 were set to ","entity_name":"MYH8","entity_type":"gene"},{"created":"2025-11-17T18:24:05.570411+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.516","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MYH8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MYH8","entity_type":"gene"},{"created":"2025-11-17T18:23:32.825155+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.515","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene MYH8 from panel Fetal anomalies","entity_name":null,"entity_type":null},{"created":"2025-11-17T18:21:55.216433+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.514","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYH3 as ready","entity_name":"MYH3","entity_type":"gene"},{"created":"2025-11-17T18:21:55.205674+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.514","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myh3 has been classified as Green List (High Evidence).","entity_name":"MYH3","entity_type":"gene"},{"created":"2025-11-17T18:21:52.451912+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.514","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYH3 were changed from  to Arthrogryposis, distal, type 2A (Freeman-Sheldon) 193700; Arthrogryposis, distal, type 2B3 (Sheldon-Hall) 618436; Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A 178110; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B 618469","entity_name":"MYH3","entity_type":"gene"},{"created":"2025-11-17T18:21:23.643891+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.513","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYH3 were set to ","entity_name":"MYH3","entity_type":"gene"},{"created":"2025-11-17T18:20:51.343685+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.512","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MYH3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MYH3","entity_type":"gene"},{"created":"2025-11-17T18:20:05.526794+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.511","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene MYH3 from panel Myopathy - paediatric onset","entity_name":null,"entity_type":null},{"created":"2025-11-17T18:18:37.068797+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.510","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MUSK as ready","entity_name":"MUSK","entity_type":"gene"},{"created":"2025-11-17T18:18:37.061667+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.510","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":"2025-11-17T18:18:34.211081+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.510","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":"2025-11-17T18:18:10.610324+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.509","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MUSK were set to ","entity_name":"MUSK","entity_type":"gene"},{"created":"2025-11-17T18:17:49.459957+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.508","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":"2025-11-17T18:17:25.495032+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.507","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: At least 3 unrelated families reported.; to: At least 3 unrelated families reported. Contractures are part of the phenotype.","entity_name":"MUSK","entity_type":"gene"},{"created":"2025-11-17T18:17:06.246706+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.507","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene MUSK from panel Multiple pterygium syndrome_Fetal akinesia sequence","entity_name":null,"entity_type":null},{"created":"2025-11-17T18:15:53.813023+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.506","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MTM1 as ready","entity_name":"MTM1","entity_type":"gene"},{"created":"2025-11-17T18:15:53.804827+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.506","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mtm1 has been classified as Green List (High Evidence).","entity_name":"MTM1","entity_type":"gene"},{"created":"2025-11-17T18:15:46.664859+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.506","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MTM1 were changed from  to X-linked myotubular myopathy MONDO:0010683","entity_name":"MTM1","entity_type":"gene"},{"created":"2025-11-17T18:15:19.375749+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.505","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MTM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MTM1","entity_type":"gene"},{"created":"2025-11-17T18:13:31.678671+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.504","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: X-linked myotubular myopathy MONDO:0010683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MTM1","entity_type":"gene"},{"created":"2025-11-17T18:12:15.946912+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.504","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LARGE1 as ready","entity_name":"LARGE1","entity_type":"gene"},{"created":"2025-11-17T18:12:15.935897+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.504","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: large1 has been classified as Green List (High Evidence).","entity_name":"LARGE1","entity_type":"gene"},{"created":"2025-11-17T18:12:07.255664+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.504","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LARGE1 were changed from  to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154","entity_name":"LARGE1","entity_type":"gene"},{"created":"2025-11-17T18:10:09.764642+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.503","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LARGE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LARGE1","entity_type":"gene"},{"created":"2025-11-17T18:09:39.323445+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.502","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LARGE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LARGE1","entity_type":"gene"},{"created":"2025-11-17T17:34:54.460799+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.502","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FKTN as ready","entity_name":"FKTN","entity_type":"gene"},{"created":"2025-11-17T17:34:54.451196+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.502","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fktn has been classified as Green List (High Evidence).","entity_name":"FKTN","entity_type":"gene"},{"created":"2025-11-17T17:34:23.979910+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.502","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FKTN were changed from  to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, MIM# 253800","entity_name":"FKTN","entity_type":"gene"},{"created":"2025-11-17T17:33:59.354200+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.501","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FKTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FKTN","entity_type":"gene"},{"created":"2025-11-17T17:33:37.977604+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.500","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FKTN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, MIM# 253800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FKTN","entity_type":"gene"},{"created":"2025-11-17T17:32:56.718771+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.500","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GMPPB as ready","entity_name":"GMPPB","entity_type":"gene"},{"created":"2025-11-17T17:32:56.708923+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.500","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gmppb has been classified as Green List (High Evidence).","entity_name":"GMPPB","entity_type":"gene"},{"created":"2025-11-17T17:32:54.108010+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.500","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GMPPB were changed from  to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350)","entity_name":"GMPPB","entity_type":"gene"},{"created":"2025-11-17T17:32:28.537189+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.499","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GMPPB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GMPPB","entity_type":"gene"},{"created":"2025-11-17T17:31:58.147344+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.498","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GMPPB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GMPPB","entity_type":"gene"},{"created":"2025-11-17T17:31:03.257637+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.498","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FLNB as ready","entity_name":"FLNB","entity_type":"gene"}]}