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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=613",
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"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"
}
]
}