{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=613","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=611","results":[{"created":"2023-04-15T13:27:50.789141+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.146","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pgk1 has been classified as Green List (High Evidence).","entity_name":"PGK1","entity_type":"gene"},{"created":"2023-04-15T13:27:41.927049+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.146","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: PGK1 were set to ","entity_name":"PGK1","entity_type":"gene"},{"created":"2023-04-15T13:26:19.350471+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.145","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PGAM2 as ready","entity_name":"PGAM2","entity_type":"gene"},{"created":"2023-04-15T13:26:19.330916+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.145","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pgam2 has been classified as Green List (High Evidence).","entity_name":"PGAM2","entity_type":"gene"},{"created":"2023-04-15T13:25:54.671589+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.145","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: PGAM2 were changed from Glycogen storage disease X 261670 to Glycogen storage disease X, MIM# 261670","entity_name":"PGAM2","entity_type":"gene"},{"created":"2023-04-15T13:25:20.971451+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.144","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: PGAM2 were set to ","entity_name":"PGAM2","entity_type":"gene"},{"created":"2023-04-15T13:23:35.346424+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.143","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GBE1 as ready","entity_name":"GBE1","entity_type":"gene"},{"created":"2023-04-15T13:23:35.333974+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.143","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gbe1 has been classified as Green List (High Evidence).","entity_name":"GBE1","entity_type":"gene"},{"created":"2023-04-15T13:23:32.160535+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.143","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: GBE1 were changed from Glycogen storage disease IV 232500 to Glycogen storage disease IV, MIM# 232500; Polyglucosan body disease, adult form MIM#263570","entity_name":"GBE1","entity_type":"gene"},{"created":"2023-04-15T13:23:14.035796+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.142","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: GBE1 were set to 8613547","entity_name":"GBE1","entity_type":"gene"},{"created":"2023-04-15T13:22:51.565203+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.141","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: GBE1 were set to ","entity_name":"GBE1","entity_type":"gene"},{"created":"2023-04-14T20:07:07.908778+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.140","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GAA as ready","entity_name":"GAA","entity_type":"gene"},{"created":"2023-04-14T20:07:07.896999+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.140","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gaa has been classified as Green List (High Evidence).","entity_name":"GAA","entity_type":"gene"},{"created":"2023-04-14T20:06:49.348892+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.140","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: GAA were changed from Glycogen storage disease II 232300 to Glycogen storage disease II (MIM#232300)","entity_name":"GAA","entity_type":"gene"},{"created":"2023-04-14T20:06:23.167609+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.139","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: GAA were set to ","entity_name":"GAA","entity_type":"gene"},{"created":"2023-04-14T20:05:53.693348+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.138","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FKRP as ready","entity_name":"FKRP","entity_type":"gene"},{"created":"2023-04-14T20:05:53.685460+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.138","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fkrp has been classified as Green List (High Evidence).","entity_name":"FKRP","entity_type":"gene"},{"created":"2023-04-14T20:05:36.956127+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.138","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: FKRP were set to ","entity_name":"FKRP","entity_type":"gene"},{"created":"2023-04-14T20:03:38.772389+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.137","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: DYSF as ready","entity_name":"DYSF","entity_type":"gene"},{"created":"2023-04-14T20:03:38.757026+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.137","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dysf has been classified as Green List (High Evidence).","entity_name":"DYSF","entity_type":"gene"},{"created":"2023-04-14T20:02:59.409456+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.137","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: DYSF were set to ","entity_name":"DYSF","entity_type":"gene"},{"created":"2023-04-14T19:51:17.482575+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.136","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PFKM as ready","entity_name":"PFKM","entity_type":"gene"},{"created":"2023-04-14T19:51:17.470973+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.136","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pfkm has been classified as Green List (High Evidence).","entity_name":"PFKM","entity_type":"gene"},{"created":"2023-04-14T19:50:38.745024+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.136","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: PFKM were changed from Glycogen storage disease VII 232800 to Glycogen storage disease VII, MIM# 232800","entity_name":"PFKM","entity_type":"gene"},{"created":"2023-04-14T19:50:17.205951+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.135","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: PFKM were set to ","entity_name":"PFKM","entity_type":"gene"},{"created":"2023-04-14T19:49:35.627136+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.134","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: LDHA as ready","entity_name":"LDHA","entity_type":"gene"},{"created":"2023-04-14T19:49:35.612152+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.134","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ldha has been classified as Green List (High Evidence).","entity_name":"LDHA","entity_type":"gene"},{"created":"2023-04-14T19:48:51.006321+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.134","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: LDHA were changed from Glycogen storage disease XI        612933 to Glycogen storage disease XI, MIM# 612933","entity_name":"LDHA","entity_type":"gene"},{"created":"2023-04-14T19:48:32.881594+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.133","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: LDHA were set to ","entity_name":"LDHA","entity_type":"gene"},{"created":"2023-04-14T19:48:07.990816+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.132","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: LAMP2 as ready","entity_name":"LAMP2","entity_type":"gene"},{"created":"2023-04-14T19:48:07.971285+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.132","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: lamp2 has been classified as Green List (High Evidence).","entity_name":"LAMP2","entity_type":"gene"},{"created":"2023-04-14T19:48:03.438754+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.132","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: LAMP2 were changed from Danon disease 300257 to Danon disease, MIM# 300257; MONDO:0010281","entity_name":"LAMP2","entity_type":"gene"},{"created":"2023-04-14T19:43:00.604162+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.131","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ISCU as ready","entity_name":"ISCU","entity_type":"gene"},{"created":"2023-04-14T19:43:00.584086+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.131","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: iscu has been classified as Green List (High Evidence).","entity_name":"ISCU","entity_type":"gene"},{"created":"2023-04-14T19:40:24.058564+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.131","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: ISCU were changed from Myopathy with lactic acidosis, hereditary 255125 to Myopathy with lactic acidosis, hereditary, MIM# 255125","entity_name":"ISCU","entity_type":"gene"},{"created":"2023-04-14T19:40:06.634947+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.130","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: ISCU were set to ","entity_name":"ISCU","entity_type":"gene"},{"created":"2023-04-14T19:37:53.208464+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.129","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: HADHB as ready","entity_name":"HADHB","entity_type":"gene"},{"created":"2023-04-14T19:37:53.200635+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.129","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: hadhb has been classified as Green List (High Evidence).","entity_name":"HADHB","entity_type":"gene"},{"created":"2023-04-14T19:36:29.137890+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.129","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: HADHB were changed from Trifunctional protein deficiency        609015 to Trifunctional protein deficiency MIM#609015","entity_name":"HADHB","entity_type":"gene"},{"created":"2023-04-14T19:35:56.179006+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.128","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: HADHB were set to ","entity_name":"HADHB","entity_type":"gene"},{"created":"2023-04-14T19:35:24.805207+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.127","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: HADHA as ready","entity_name":"HADHA","entity_type":"gene"},{"created":"2023-04-14T19:35:24.790877+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.127","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: hadha has been classified as Green List (High Evidence).","entity_name":"HADHA","entity_type":"gene"},{"created":"2023-04-14T19:35:13.921093+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.127","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: HADHA were changed from Trifunctional protein deficiency 609015 to LCHAD deficiency MIM#609016; Trifunctional protein deficiency MIM#609015","entity_name":"HADHA","entity_type":"gene"},{"created":"2023-04-14T19:34:52.999293+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.126","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: HADHA were set to ","entity_name":"HADHA","entity_type":"gene"},{"created":"2023-04-14T19:30:32.723047+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.125","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TMEM126B as ready","entity_name":"TMEM126B","entity_type":"gene"},{"created":"2023-04-14T19:30:32.715278+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.125","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tmem126b has been classified as Green List (High Evidence).","entity_name":"TMEM126B","entity_type":"gene"},{"created":"2023-04-14T19:30:14.695935+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.125","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TMEM126B as Green List (high evidence)","entity_name":"TMEM126B","entity_type":"gene"},{"created":"2023-04-14T19:30:14.683982+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.125","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tmem126b has been classified as Green List (High Evidence).","entity_name":"TMEM126B","entity_type":"gene"},{"created":"2023-04-14T19:28:25.717688+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.124","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: DMD as ready","entity_name":"DMD","entity_type":"gene"},{"created":"2023-04-14T19:28:25.706795+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.124","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dmd has been classified as Green List (High Evidence).","entity_name":"DMD","entity_type":"gene"},{"created":"2023-04-14T19:28:05.970444+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.124","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: DMD were set to ","entity_name":"DMD","entity_type":"gene"},{"created":"2023-04-14T19:27:42.042458+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.123","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: DMD as Green List (high evidence)","entity_name":"DMD","entity_type":"gene"},{"created":"2023-04-14T19:27:42.038827+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.123","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: The phenotype spectrum includes asymptomatic increase in serum concentration of creatine phosphokinase (CK) and muscle cramps with myoglobinuria.","entity_name":"DMD","entity_type":"gene"},{"created":"2023-04-14T19:27:42.013658+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.123","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dmd has been classified as Green List (High Evidence).","entity_name":"DMD","entity_type":"gene"},{"created":"2023-04-14T19:23:48.433508+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.122","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: DMD was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"DMD","entity_type":"gene"},{"created":"2023-04-14T19:17:23.528699+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.121","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: CPT2 as ready","entity_name":"CPT2","entity_type":"gene"},{"created":"2023-04-14T19:17:23.518058+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.121","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cpt2 has been classified as Green List (High Evidence).","entity_name":"CPT2","entity_type":"gene"},{"created":"2023-04-14T19:17:12.808338+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.121","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: CPT2: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CPT2","entity_type":"gene"},{"created":"2023-04-14T19:16:17.874034+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.121","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: CAV3 as ready","entity_name":"CAV3","entity_type":"gene"},{"created":"2023-04-14T19:16:17.862033+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.121","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cav3 has been classified as Green List (High Evidence).","entity_name":"CAV3","entity_type":"gene"},{"created":"2023-04-14T19:15:33.109310+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.121","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ANO5 as ready","entity_name":"ANO5","entity_type":"gene"},{"created":"2023-04-14T19:15:33.088181+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.121","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ano5 has been classified as Green List (High Evidence).","entity_name":"ANO5","entity_type":"gene"},{"created":"2023-04-14T19:15:18.074711+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.121","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: ANO5 were set to ","entity_name":"ANO5","entity_type":"gene"},{"created":"2023-04-14T19:14:48.505534+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.120","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ANO5 as Green List (high evidence)","entity_name":"ANO5","entity_type":"gene"},{"created":"2023-04-14T19:14:48.500901+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.120","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: The phenotype can range from asymptomatic hyperCKemia and exercise-induced myalgia to proximal and/or distal muscle weakness","entity_name":"ANO5","entity_type":"gene"},{"created":"2023-04-14T19:14:48.477304+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.120","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ano5 has been classified as Green List (High Evidence).","entity_name":"ANO5","entity_type":"gene"},{"created":"2023-04-14T18:45:46.543268+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.119","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: CACNA1S as ready","entity_name":"CACNA1S","entity_type":"gene"},{"created":"2023-04-14T18:45:46.535305+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.119","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cacna1s has been classified as Green List (High Evidence).","entity_name":"CACNA1S","entity_type":"gene"},{"created":"2023-04-14T18:45:25.408296+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.119","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CACNA1S as Green List (high evidence)","entity_name":"CACNA1S","entity_type":"gene"},{"created":"2023-04-14T18:45:25.403337+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.119","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Second most common cause of malignant hyperthermia susceptibility after RYR1, but it is still a rare cause.","entity_name":"CACNA1S","entity_type":"gene"},{"created":"2023-04-14T18:45:25.368776+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.119","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cacna1s has been classified as Green List (High Evidence).","entity_name":"CACNA1S","entity_type":"gene"},{"created":"2023-04-14T18:44:07.349450+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.118","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of pathogenicity for gene: CACNA1S was changed from  to Other","entity_name":"CACNA1S","entity_type":"gene"},{"created":"2023-04-14T18:43:54.448421+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.117","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: CACNA1S were set to 20301325","entity_name":"CACNA1S","entity_type":"gene"},{"created":"2023-04-14T18:39:35.256254+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.116","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: CACNA1S were set to ","entity_name":"CACNA1S","entity_type":"gene"},{"created":"2023-04-14T18:36:37.326754+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.115","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: AGL as ready","entity_name":"AGL","entity_type":"gene"},{"created":"2023-04-14T18:36:37.315879+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.115","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: agl has been classified as Green List (High Evidence).","entity_name":"AGL","entity_type":"gene"},{"created":"2023-04-14T18:36:28.809356+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.115","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: AGL were set to ","entity_name":"AGL","entity_type":"gene"},{"created":"2023-04-14T18:31:59.899026+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.108","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: VPS13A as ready","entity_name":"VPS13A","entity_type":"gene"},{"created":"2023-04-14T18:31:59.888065+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.108","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: vps13a has been classified as Green List (High Evidence).","entity_name":"VPS13A","entity_type":"gene"},{"created":"2023-04-14T18:31:56.294798+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.108","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: VPS13A as Green List (high evidence)","entity_name":"VPS13A","entity_type":"gene"},{"created":"2023-04-14T18:31:56.283623+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.108","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: vps13a has been classified as Green List (High Evidence).","entity_name":"VPS13A","entity_type":"gene"},{"created":"2023-04-14T18:31:38.206807+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.107","user_name":"Bryony Thompson","item_type":"entity","text":"gene: VPS13A was added\ngene: VPS13A was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature\nMode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS13A were set to 33652783; 20301561\nPhenotypes for gene: VPS13A were set to chorea-acanthocytosis MONDO:0008695\nReview for gene: VPS13A was set to GREEN\ngene: VPS13A was marked as current diagnostic\nAdded comment: Well-established gene-disease association. A feature of the condition can be progressive distal muscle wasting and weakness that can be subclinical (only creatine kinase [CK] elevation). Myopathic changes can be detected on electromyography (as well as chronic denervation). \nSources: Literature","entity_name":"VPS13A","entity_type":"gene"},{"created":"2023-04-14T18:15:51.324654+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.106","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: VMA21 as Green List (high evidence)","entity_name":"VMA21","entity_type":"gene"},{"created":"2023-04-14T18:15:51.314373+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.106","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: vma21 has been classified as Green List (High Evidence).","entity_name":"VMA21","entity_type":"gene"},{"created":"2023-04-14T18:11:49.013968+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.105","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TMEM43 was added\ngene: TMEM43 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature\nMode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TMEM43 were set to 21391237; 30311943\nPhenotypes for gene: TMEM43 were set to Emery-Dreifuss muscular dystrophy 7, autosomal dominant MONDO:0013677","entity_name":"TMEM43","entity_type":"gene"},{"created":"2023-04-14T18:08:26.416545+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.112","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TMEM126B was added\ngene: TMEM126B was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert list\nMode of inheritance for gene: TMEM126B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM126B were set to 27374774; 27374773\nPhenotypes for gene: TMEM126B were set to mitochondrial complex 1 deficiency, nuclear type 29 MONDO:0032633","entity_name":"TMEM126B","entity_type":"gene"},{"created":"2023-04-14T18:04:31.692556+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.104","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TIA1 was added\ngene: TIA1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature\nMode of inheritance for gene: TIA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: TIA1 were set to 23401021; 23401021\nPhenotypes for gene: TIA1 were set to distal myopathy, Welander type MONDO:0011466\nMode of pathogenicity for gene: TIA1 was set to Other","entity_name":"TIA1","entity_type":"gene"},{"created":"2023-04-14T18:00:50.659202+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.103","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: STIM1 as Green List (high evidence)","entity_name":"STIM1","entity_type":"gene"},{"created":"2023-04-14T18:00:50.643731+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.103","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: stim1 has been classified as Green List (High Evidence).","entity_name":"STIM1","entity_type":"gene"},{"created":"2023-04-14T17:57:48.967546+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.102","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PYROXD1 as Green List (high evidence)","entity_name":"PYROXD1","entity_type":"gene"},{"created":"2023-04-14T17:57:48.957879+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.102","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pyroxd1 has been classified as Green List (High Evidence).","entity_name":"PYROXD1","entity_type":"gene"},{"created":"2023-04-14T17:56:25.034914+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.101","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SQSTM1 was added\ngene: SQSTM1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature\nMode of inheritance for gene: SQSTM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SQSTM1 were set to 29599744; 26208961; 29457785\nPhenotypes for gene: SQSTM1 were set to myopathy, distal, with rimmed vacuoles MONDO:0014945; multisystem proteinopathy\nMode of pathogenicity for gene: SQSTM1 was set to Other","entity_name":"SQSTM1","entity_type":"gene"},{"created":"2023-04-14T17:53:13.467243+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.100","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SMPX was added\ngene: SMPX was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature\nMode of inheritance for gene: SMPX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SMPX were set to 33974137\nPhenotypes for gene: SMPX were set to Myopathy, distal, 7, adult-onset, X-linked, MIM# 301075\nMode of pathogenicity for gene: SMPX was set to Other","entity_name":"SMPX","entity_type":"gene"},{"created":"2023-04-14T17:49:23.928687+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.111","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PUS1 was added\ngene: PUS1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert Review\nMode of inheritance for gene: PUS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PUS1 were set to 25227147; 17056637; 15108122; 32287105; 31641589; 28832011\nPhenotypes for gene: PUS1 were set to myopathy, lactic acidosis, and sideroblastic anemia 1 MONDO:0024553","entity_name":"PUS1","entity_type":"gene"},{"created":"2023-04-14T17:09:51.749870+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.99","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ORAI1 as Green List (high evidence)","entity_name":"ORAI1","entity_type":"gene"},{"created":"2023-04-14T17:09:51.742202+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.99","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: orai1 has been classified as Green List (High Evidence).","entity_name":"ORAI1","entity_type":"gene"},{"created":"2023-04-14T17:05:20.906910+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.98","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PABPN1 was added\ngene: PABPN1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Other\nMode of inheritance for gene: PABPN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: PABPN1 were set to 19080757; 33805441; 16648376\nPhenotypes for gene: PABPN1 were set to oculopharyngeal muscular dystrophy MONDO:0008116\nAdded comment: Included for overlapping phenotype \nSources: Other","entity_name":"PABPN1","entity_type":"gene"},{"created":"2023-04-14T17:00:49.059653+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.110","user_name":"Bryony Thompson","item_type":"entity","text":"gene: OPA1 was added\ngene: OPA1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Literature\nMode of inheritance for gene: OPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: OPA1 were set to 30165240; 20301426\nPhenotypes for gene: OPA1 were set to optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy MONDO:0007429","entity_name":"OPA1","entity_type":"gene"},{"created":"2023-04-14T16:50:54.589585+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.97","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MYOT as Green List (high evidence)","entity_name":"MYOT","entity_type":"gene"},{"created":"2023-04-14T16:50:54.578593+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.97","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: myot has been classified as Green List (High Evidence).","entity_name":"MYOT","entity_type":"gene"}]}