{"count":220817,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=732","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=730","results":[{"created":"2022-10-06T10:26:35.546053+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.309","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COQ7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 8 MIM#616733; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COQ7","entity_type":"gene"},{"created":"2022-10-06T10:23:29.848402+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: COQ4.","entity_name":"COQ4","entity_type":"gene"},{"created":"2022-10-06T10:23:10.667148+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.344","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: COQ4.","entity_name":"COQ4","entity_type":"gene"},{"created":"2022-10-06T10:22:53.119044+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4959","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: COQ4.","entity_name":"COQ4","entity_type":"gene"},{"created":"2022-10-06T10:18:12.312097+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.507","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: COQ4.","entity_name":"COQ4","entity_type":"gene"},{"created":"2022-10-06T10:17:55.842974+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.836","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: COQ4.","entity_name":"COQ4","entity_type":"gene"},{"created":"2022-10-06T10:17:40.803687+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1675","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: COQ4.","entity_name":"COQ4","entity_type":"gene"},{"created":"2022-10-06T10:17:14.968279+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.346","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Primary coenzyme Q10 deficiency-7 (COQ10D7) is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth. IUGR reported. At least 9 unrelated families reported.; to: Primary coenzyme Q10 deficiency-7 (COQ10D7) is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth. IUGR reported. At least 9 unrelated families reported.\r\n\r\nTreatment: CoQ10 supplementation can limit disease progression and reverse some clinical manifestations.","entity_name":"COQ4","entity_type":"gene"},{"created":"2022-10-06T10:12:27.823485+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.346","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: COQ4.","entity_name":"COQ4","entity_type":"gene"},{"created":"2022-10-06T10:12:18.046439+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.309","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COQ4 as ready","entity_name":"COQ4","entity_type":"gene"},{"created":"2022-10-06T10:12:18.037049+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.309","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: coq4 has been classified as Green List (High Evidence).","entity_name":"COQ4","entity_type":"gene"},{"created":"2022-10-06T10:12:11.115495+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.309","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: COQ4.","entity_name":"COQ4","entity_type":"gene"},{"created":"2022-10-06T10:12:01.529111+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.309","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 7, MIM# 616276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COQ4","entity_type":"gene"},{"created":"2022-10-06T10:05:32.802244+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: COLQ.\nTag clinical trial tag was added to gene: COLQ.","entity_name":"COLQ","entity_type":"gene"},{"created":"2022-10-06T10:05:12.849736+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: COLQ.\nTag clinical trial tag was added to gene: COLQ.","entity_name":"COLQ","entity_type":"gene"},{"created":"2022-10-06T10:04:39.572620+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.346","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: COLQ.\nTag clinical trial tag was added to gene: COLQ.","entity_name":"COLQ","entity_type":"gene"},{"created":"2022-10-06T10:04:07.591628+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.309","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COLQ as ready","entity_name":"COLQ","entity_type":"gene"},{"created":"2022-10-06T10:04:07.581971+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.309","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: colq has been classified as Green List (High Evidence).","entity_name":"COLQ","entity_type":"gene"},{"created":"2022-10-06T10:03:57.282725+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.309","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: COLQ.\nTag clinical trial tag was added to gene: COLQ.","entity_name":"COLQ","entity_type":"gene"},{"created":"2022-10-06T10:00:31.664690+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.309","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COLQ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 5, MIM# 603034; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COLQ","entity_type":"gene"},{"created":"2022-10-06T09:58:17.420749+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.309","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003 to Ceroid lipofuscinosis, neuronal, 8, MIM# 600143; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003","entity_name":"CLN8","entity_type":"gene"},{"created":"2022-10-06T09:58:04.434606+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.308","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CLN8: Changed phenotypes: Ceroid lipofuscinosis, neuronal, 8, MIM# 600143, Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003","entity_name":"CLN8","entity_type":"gene"},{"created":"2022-10-06T09:57:51.984165+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.308","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CLN8 as ready","entity_name":"CLN8","entity_type":"gene"},{"created":"2022-10-06T09:57:51.976251+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.308","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cln8 has been classified as Red List (Low Evidence).","entity_name":"CLN8","entity_type":"gene"},{"created":"2022-10-06T09:57:48.374061+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.308","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8 to Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003","entity_name":"CLN8","entity_type":"gene"},{"created":"2022-10-06T09:57:37.508956+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.307","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CLN8 were set to ","entity_name":"CLN8","entity_type":"gene"},{"created":"2022-10-06T09:57:23.690653+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.306","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CLN8 as Red List (low evidence)","entity_name":"CLN8","entity_type":"gene"},{"created":"2022-10-06T09:57:23.675576+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.306","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cln8 has been classified as Red List (Low Evidence).","entity_name":"CLN8","entity_type":"gene"},{"created":"2022-10-06T09:57:11.929284+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.305","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CLN8: Rating: RED; Mode of pathogenicity: None; Publications: 33242182; Phenotypes: Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CLN8","entity_type":"gene"},{"created":"2022-10-06T09:55:45.258844+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.305","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CLN6 as ready","entity_name":"CLN6","entity_type":"gene"},{"created":"2022-10-06T09:55:45.241372+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.305","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cln6 has been classified as Amber List (Moderate Evidence).","entity_name":"CLN6","entity_type":"gene"},{"created":"2022-10-06T09:02:38.982725+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.305","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLN6 were changed from Ceroid lipofuscinosis, neuronal, 6 to Ceroid lipofuscinosis, neuronal, 6, MIM# 601780","entity_name":"CLN6","entity_type":"gene"},{"created":"2022-10-06T09:02:25.324482+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.304","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CLN6 were set to ","entity_name":"CLN6","entity_type":"gene"},{"created":"2022-10-06T09:02:13.220365+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.303","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CLN6 as Amber List (moderate evidence)","entity_name":"CLN6","entity_type":"gene"},{"created":"2022-10-06T09:02:13.208806+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.303","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cln6 has been classified as Amber List (Moderate Evidence).","entity_name":"CLN6","entity_type":"gene"},{"created":"2022-10-06T08:45:00.499021+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.302","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: CLN6.\nTag clinical trial tag was added to gene: CLN6.","entity_name":"CLN6","entity_type":"gene"},{"created":"2022-10-06T08:44:46.114038+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.302","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CLN6: Rating: AMBER; Mode of pathogenicity: None; Publications: 33242182; Phenotypes: Ceroid lipofuscinosis, neuronal, 6, MIM# 601780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CLN6","entity_type":"gene"},{"created":"2022-10-06T08:40:17.827682+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.302","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CLN5 as ready","entity_name":"CLN5","entity_type":"gene"},{"created":"2022-10-06T08:40:17.819684+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.302","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cln5 has been classified as Amber List (Moderate Evidence).","entity_name":"CLN5","entity_type":"gene"},{"created":"2022-10-06T08:40:13.356937+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.302","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLN5 were changed from Ceroid lipofuscinosis, neuronal, 5 to Ceroid lipofuscinosis, neuronal, 5, MIM# 256731; MONDO:0009745","entity_name":"CLN5","entity_type":"gene"},{"created":"2022-10-06T08:39:58.909148+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.301","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CLN5 as Amber List (moderate evidence)","entity_name":"CLN5","entity_type":"gene"},{"created":"2022-10-06T08:39:58.900636+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.301","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cln5 has been classified as Amber List (Moderate Evidence).","entity_name":"CLN5","entity_type":"gene"},{"created":"2022-10-06T08:39:16.966887+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.300","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: CLN5.\nTag clinical trial tag was added to gene: CLN5.","entity_name":"CLN5","entity_type":"gene"},{"created":"2022-10-06T08:38:58.394908+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.300","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CLN5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 5, MIM# 256731, MONDO:0009745; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CLN5","entity_type":"gene"},{"created":"2022-10-06T08:33:27.120863+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.300","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CLN3 as ready","entity_name":"CLN3","entity_type":"gene"},{"created":"2022-10-06T08:33:27.105727+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.300","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cln3 has been classified as Amber List (Moderate Evidence).","entity_name":"CLN3","entity_type":"gene"},{"created":"2022-10-06T08:33:19.106376+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.300","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLN3 were changed from Ceroid lipofuscinosis, neuronal, 3 to Ceroid lipofuscinosis, neuronal, 3, MIM# 204200","entity_name":"CLN3","entity_type":"gene"},{"created":"2022-10-06T08:33:05.822189+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.299","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CLN3 as Amber List (moderate evidence)","entity_name":"CLN3","entity_type":"gene"},{"created":"2022-10-06T08:33:05.792188+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.299","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cln3 has been classified as Amber List (Moderate Evidence).","entity_name":"CLN3","entity_type":"gene"},{"created":"2022-10-06T08:32:51.547350+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.298","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: CLN3.\nTag clinical trial tag was added to gene: CLN3.","entity_name":"CLN3","entity_type":"gene"},{"created":"2022-10-06T08:32:33.696426+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.298","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CLN3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 3, MIM# 204200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CLN3","entity_type":"gene"},{"created":"2022-10-06T08:30:38.798629+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAM16 as ready","entity_name":"PAM16","entity_type":"gene"},{"created":"2022-10-06T08:30:38.787521+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pam16 has been classified as Green List (High Evidence).","entity_name":"PAM16","entity_type":"gene"},{"created":"2022-10-06T08:30:33.463158+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PAM16 as Green List (high evidence)","entity_name":"PAM16","entity_type":"gene"},{"created":"2022-10-06T08:30:33.454807+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pam16 has been classified as Green List (High Evidence).","entity_name":"PAM16","entity_type":"gene"},{"created":"2022-10-06T08:29:46.719050+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PCNT as ready","entity_name":"PCNT","entity_type":"gene"},{"created":"2022-10-06T08:29:46.708917+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcnt has been classified as Green List (High Evidence).","entity_name":"PCNT","entity_type":"gene"},{"created":"2022-10-06T08:29:38.983853+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PCNT as Green List (high evidence)","entity_name":"PCNT","entity_type":"gene"},{"created":"2022-10-06T08:29:38.975204+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcnt has been classified as Green List (High Evidence).","entity_name":"PCNT","entity_type":"gene"},{"created":"2022-10-06T08:28:36.240607+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POC1A as ready","entity_name":"POC1A","entity_type":"gene"},{"created":"2022-10-06T08:28:36.231982+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: poc1a has been classified as Green List (High Evidence).","entity_name":"POC1A","entity_type":"gene"},{"created":"2022-10-06T08:28:32.305304+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POC1A as Green List (high evidence)","entity_name":"POC1A","entity_type":"gene"},{"created":"2022-10-06T08:28:32.295554+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: poc1a has been classified as Green List (High Evidence).","entity_name":"POC1A","entity_type":"gene"},{"created":"2022-10-06T08:27:48.160088+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POP1 as ready","entity_name":"POP1","entity_type":"gene"},{"created":"2022-10-06T08:27:48.149984+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pop1 has been classified as Green List (High Evidence).","entity_name":"POP1","entity_type":"gene"},{"created":"2022-10-06T08:27:43.725070+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POP1 as Green List (high evidence)","entity_name":"POP1","entity_type":"gene"},{"created":"2022-10-06T08:27:43.717162+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pop1 has been classified as Green List (High Evidence).","entity_name":"POP1","entity_type":"gene"},{"created":"2022-10-06T08:27:00.906247+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ROR2 as ready","entity_name":"ROR2","entity_type":"gene"},{"created":"2022-10-06T08:27:00.895537+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ror2 has been classified as Green List (High Evidence).","entity_name":"ROR2","entity_type":"gene"},{"created":"2022-10-06T08:26:55.834965+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ROR2 as Green List (high evidence)","entity_name":"ROR2","entity_type":"gene"},{"created":"2022-10-06T08:26:55.825505+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ror2 has been classified as Green List (High Evidence).","entity_name":"ROR2","entity_type":"gene"},{"created":"2022-10-06T08:25:54.444936+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.298","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHRNG as ready","entity_name":"CHRNG","entity_type":"gene"},{"created":"2022-10-06T08:25:54.434861+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.298","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chrng has been classified as Red List (Low Evidence).","entity_name":"CHRNG","entity_type":"gene"},{"created":"2022-10-06T08:25:50.911183+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.298","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHRNG were changed from Pterygium syndrome to Escobar syndrome, MIM# 265000; Multiple pterygium syndrome, lethal type, MIM# 253290","entity_name":"CHRNG","entity_type":"gene"},{"created":"2022-10-06T08:25:34.351112+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.297","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CHRNG as Red List (low evidence)","entity_name":"CHRNG","entity_type":"gene"},{"created":"2022-10-06T08:25:34.342670+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.297","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chrng has been classified as Red List (Low Evidence).","entity_name":"CHRNG","entity_type":"gene"},{"created":"2022-10-06T08:25:22.324070+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.296","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CHRNG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Escobar syndrome, MIM# 265000, Multiple pterygium syndrome, lethal type, MIM# 253290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHRNG","entity_type":"gene"},{"created":"2022-10-06T08:23:41.261682+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.296","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHRNE as ready","entity_name":"CHRNE","entity_type":"gene"},{"created":"2022-10-06T08:23:41.247589+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.296","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chrne has been classified as Green List (High Evidence).","entity_name":"CHRNE","entity_type":"gene"},{"created":"2022-10-06T08:22:51.516339+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.296","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHRNE were changed from Congenital myasthenic syndrome, MIM#605809 to Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Myasthenic syndrome, slow-channel congenital, 601462; Myasthenic syndrome, congenital, 4A, slow-channel, 605809","entity_name":"CHRNE","entity_type":"gene"},{"created":"2022-10-06T08:22:24.201908+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CHRNE.","entity_name":"CHRNE","entity_type":"gene"},{"created":"2022-10-06T08:22:07.910994+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CHRNE.","entity_name":"CHRNE","entity_type":"gene"},{"created":"2022-10-06T08:21:44.607301+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.346","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CHRNE.","entity_name":"CHRNE","entity_type":"gene"},{"created":"2022-10-06T08:21:24.474002+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CHRND.","entity_name":"CHRND","entity_type":"gene"},{"created":"2022-10-06T08:21:05.316318+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CHRND.","entity_name":"CHRND","entity_type":"gene"},{"created":"2022-10-06T08:20:50.442567+11:00","panel_name":"Multiple pterygium syndrome_Fetal akinesia sequence","panel_id":139,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CHRND.","entity_name":"CHRND","entity_type":"gene"},{"created":"2022-10-06T08:18:43.332061+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.346","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CHRND.","entity_name":"CHRND","entity_type":"gene"},{"created":"2022-10-06T08:18:28.423306+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.295","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established association with multiple subtypes of congenital myasthenia, both mono- and bi-allelic variants reported.\r\n\r\nSevere disorder, congenital.; to: Well established association with multiple subtypes of congenital myasthenia, both mono- and bi-allelic variants reported.\r\n\r\nSevere disorder, congenital.\r\n\r\nTreatment available.","entity_name":"CHRNE","entity_type":"gene"},{"created":"2022-10-06T08:18:11.396885+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.295","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CHRNE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 4B, fast-channel, 616324, Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931, Myasthenic syndrome, slow-channel congenital, 601462, Myasthenic syndrome, congenital, 4A, slow-channel, 605809; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CHRNE","entity_type":"gene"},{"created":"2022-10-06T08:15:29.877330+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.295","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association.\r\n\r\nSevere disorder, perinatal onset.\r\n\r\nTreatment: 3,4-diaminopyridine, acetylcholine-esterase inhibitors; to: Well established gene-disease association for bi-allelic variants. Single individual only with mono-allelic variant reported.\r\n\r\nSevere disorder, perinatal onset.\r\n\r\nTreatment: 3,4-diaminopyridine, acetylcholine-esterase inhibitors","entity_name":"CHRND","entity_type":"gene"},{"created":"2022-10-06T08:15:06.663155+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.295","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHRND as ready","entity_name":"CHRND","entity_type":"gene"},{"created":"2022-10-06T08:15:06.650740+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.295","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chrnd has been classified as Green List (High Evidence).","entity_name":"CHRND","entity_type":"gene"},{"created":"2022-10-06T08:15:01.313853+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.295","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHRND were changed from Congenital myasthenic syndrome, MIM#616321 to Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322; Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323; Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321; Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668","entity_name":"CHRND","entity_type":"gene"},{"created":"2022-10-06T08:14:49.075312+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.294","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CHRND were set to ","entity_name":"CHRND","entity_type":"gene"},{"created":"2022-10-06T08:14:17.690911+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.293","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: None; Publications: 30808424; Phenotypes: Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322, Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323, Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321, Multiple pterygium syndrome, lethal type, MIM# 253290, MONDO:0009668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHRND","entity_type":"gene"},{"created":"2022-10-06T08:11:16.223412+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CHRNA1.","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2022-10-06T08:10:54.101541+11:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CHRNA1.","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2022-10-06T08:10:38.261165+11:00","panel_name":"Multiple pterygium syndrome_Fetal akinesia sequence","panel_id":139,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CHRNA1.","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2022-10-06T08:10:05.094467+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.346","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CHRNA1.","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2022-10-06T08:08:22.434151+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.293","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC5A2 as ready","entity_name":"SLC5A2","entity_type":"gene"}]}