{"count":220694,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=128","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=126","results":[{"created":"2025-11-19T16:45:21.169943+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.577","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex6 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX6","entity_type":"gene"},{"created":"2025-11-19T16:45:18.679795+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.577","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PEX6 were changed from  to Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862)","entity_name":"PEX6","entity_type":"gene"},{"created":"2025-11-19T16:44:42.494760+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.576","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PEX6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX6","entity_type":"gene"},{"created":"2025-11-19T16:44:20.040741+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.575","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PEX6 as Amber List (moderate evidence)","entity_name":"PEX6","entity_type":"gene"},{"created":"2025-11-19T16:44:20.032944+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.575","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex6 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX6","entity_type":"gene"},{"created":"2025-11-19T16:43:51.143344+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.574","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PEX6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX6","entity_type":"gene"},{"created":"2025-11-19T16:42:25.855690+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.574","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX5 as ready","entity_name":"PEX5","entity_type":"gene"},{"created":"2025-11-19T16:42:25.845882+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.574","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex5 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX5","entity_type":"gene"},{"created":"2025-11-19T16:42:18.912170+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.574","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PEX5 were changed from  to Peroxisome biogenesis disorder 2A (Zellweger) (MIM#214110)","entity_name":"PEX5","entity_type":"gene"},{"created":"2025-11-19T16:41:48.470756+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.573","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PEX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX5","entity_type":"gene"},{"created":"2025-11-19T16:41:20.648029+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.572","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PEX5 as Amber List (moderate evidence)","entity_name":"PEX5","entity_type":"gene"},{"created":"2025-11-19T16:41:20.638117+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.572","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex5 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX5","entity_type":"gene"},{"created":"2025-11-19T16:40:58.091129+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.571","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PEX5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 2A (Zellweger) (MIM#214110); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX5","entity_type":"gene"},{"created":"2025-11-19T14:56:14.864817+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3576","user_name":"Rylee Peters","item_type":"entity","text":"Classified gene: STARD9 as Amber List (moderate evidence)","entity_name":"STARD9","entity_type":"gene"},{"created":"2025-11-19T14:56:14.856515+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3576","user_name":"Rylee Peters","item_type":"entity","text":"Gene: stard9 has been classified as Amber List (Moderate Evidence).","entity_name":"STARD9","entity_type":"gene"},{"created":"2025-11-19T14:49:36.911390+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.429","user_name":"Rylee Peters","item_type":"panel","text":"Copied gene RPS6KC1 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-19T14:49:36.556300+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.429","user_name":"Rylee Peters","item_type":"entity","text":"gene: RPS6KC1 was added\ngene: RPS6KC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature\nMode of inheritance for gene: RPS6KC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RPS6KC1 were set to 41130203\nPhenotypes for gene: RPS6KC1 were set to Complex neurodevelopmental disorder, MONDO:0100038, RPS6KC1-related","entity_name":"RPS6KC1","entity_type":"gene"},{"created":"2025-11-19T14:48:56.837734+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.103","user_name":"Rylee Peters","item_type":"panel","text":"Copied gene RPS6KC1 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-19T14:48:56.672517+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.103","user_name":"Rylee Peters","item_type":"entity","text":"gene: RPS6KC1 was added\ngene: RPS6KC1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert Review Green,Literature\nMode of inheritance for gene: RPS6KC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RPS6KC1 were set to 41130203\nPhenotypes for gene: RPS6KC1 were set to Complex neurodevelopmental disorder, MONDO:0100038, RPS6KC1-related","entity_name":"RPS6KC1","entity_type":"gene"},{"created":"2025-11-19T14:48:26.257497+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.272","user_name":"Rylee Peters","item_type":"panel","text":"Copied gene RPS6KC1 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-19T14:48:25.983393+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.272","user_name":"Rylee Peters","item_type":"entity","text":"gene: RPS6KC1 was added\ngene: RPS6KC1 was added to Genetic Epilepsy. Sources: Expert Review Green,Literature\nMode of inheritance for gene: RPS6KC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RPS6KC1 were set to 41130203\nPhenotypes for gene: RPS6KC1 were set to Complex neurodevelopmental disorder, MONDO:0100038, RPS6KC1-related","entity_name":"RPS6KC1","entity_type":"gene"},{"created":"2025-11-19T14:47:35.568602+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.569","user_name":"Rylee Peters","item_type":"panel","text":"Copied gene RPS6KC1 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-19T14:47:35.312937+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.569","user_name":"Rylee Peters","item_type":"entity","text":"gene: RPS6KC1 was added\ngene: RPS6KC1 was added to Callosome. Sources: Expert Review Green,Literature\nMode of inheritance for gene: RPS6KC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RPS6KC1 were set to 41130203\nPhenotypes for gene: RPS6KC1 were set to Complex neurodevelopmental disorder, MONDO:0100038, RPS6KC1-related","entity_name":"RPS6KC1","entity_type":"gene"},{"created":"2025-11-19T14:45:14.630514+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3575","user_name":"Rylee Peters","item_type":"entity","text":"Classified gene: RPS6KC1 as Green List (high evidence)","entity_name":"RPS6KC1","entity_type":"gene"},{"created":"2025-11-19T14:45:14.623311+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3575","user_name":"Rylee Peters","item_type":"entity","text":"Gene: rps6kc1 has been classified as Green List (High Evidence).","entity_name":"RPS6KC1","entity_type":"gene"},{"created":"2025-11-19T14:36:54.324800+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3574","user_name":"Rylee Peters","item_type":"entity","text":"gene: RPS6KC1 was added\ngene: RPS6KC1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RPS6KC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RPS6KC1 were set to 41130203\nPhenotypes for gene: RPS6KC1 were set to Complex neurodevelopmental disorder, MONDO:0100038, RPS6KC1-related\nReview for gene: RPS6KC1 was set to GREEN\nAdded comment: PMID: 41130203 | Bi-allelic RPS6KC1 variants identified in 13 individuals from 8 independent families. Phenotypic manifestations included neurodevelopmental delay, epilepsy, hypotonia, spastic paraplegia, brain white matter loss, and dysmorphic features.\r\nFunctional studies including a HAP1 cellular model and a Drosophila melanogaster model recapitulated the defects observed in individuals with RPS6KC1 variants. \nSources: Literature","entity_name":"RPS6KC1","entity_type":"gene"},{"created":"2025-11-19T10:53:08.250822+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.428","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DOCK4 were changed from DOCK4-related neurodevelopmental disorder (MONDO:0060490) to Neurodevelopmental disorder, MONDO:0700092, DOCK4-related","entity_name":"DOCK4","entity_type":"gene"},{"created":"2025-11-19T10:52:23.845371+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.427","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DOCK4: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, DOCK4-related","entity_name":"DOCK4","entity_type":"gene"},{"created":"2025-11-19T10:52:05.359735+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3573","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DOCK4 were changed from DOCK4-related neurodevelopmental disorder (MONDO:0060490) to Neurodevelopmental disorder, MONDO:0700092, DOCK4-related","entity_name":"DOCK4","entity_type":"gene"},{"created":"2025-11-19T10:29:54.022588+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3572","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DOCK4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, DOCK4-related; Mode of inheritance: None","entity_name":"DOCK4","entity_type":"gene"},{"created":"2025-11-19T08:50:38.920758+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3572","user_name":"Rylee Peters","item_type":"entity","text":"gene: STARD9 was added\ngene: STARD9 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: STARD9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STARD9 were set to 41137852; 28777490\nPhenotypes for gene: STARD9 were set to Syndromic disorder (MONDO:0002254), STARD9-related\nReview for gene: STARD9 was set to AMBER\nAdded comment: STARD9 enables microtubule binding activity, motor activity and is involved in spindle assembly.\r\n\r\nPMID: 41137852 | 1x cHet individual with early-onset febrile seizures followed by atypical absence seizures. The two missense identified, p.(Leu694Phe) and p.(Met3409Val), have 5 hets and 125 hets respectively in gnomAD v4.\r\n\r\nPMID: 28777490 | 1x hom individual with a frameshift variant, p.(L3920fs*38). Patient had severe intellectual disability, epilepsy, dysmorphic features, acquired microcephaly, and blindness. Patient cells showed mitotic spindle assembly defects. \nSources: Literature","entity_name":"STARD9","entity_type":"gene"},{"created":"2025-11-19T08:26:04.343730+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LRRC7 were changed from neurodevelopmental disorder (MONDO:0700092), LRRC7-related to Intellectual developmental disorder, autosomal dominant 77, MIM# 621415","entity_name":"LRRC7","entity_type":"gene"},{"created":"2025-11-19T08:25:49.884015+11:00","panel_name":"Severe early-onset obesity","panel_id":3764,"panel_version":"1.19","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LRRC7: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 77, MIM# 621415","entity_name":"LRRC7","entity_type":"gene"},{"created":"2025-11-19T08:25:20.740773+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.427","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LRRC7 were changed from neurodevelopmental disorder (MONDO:0700092), LRRC7-related to Intellectual developmental disorder, autosomal dominant 77, MIM# 621415","entity_name":"LRRC7","entity_type":"gene"},{"created":"2025-11-19T08:24:50.061631+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.426","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LRRC7: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 77, MIM# 621415","entity_name":"LRRC7","entity_type":"gene"},{"created":"2025-11-19T08:24:34.387827+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3571","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LRRC7 were changed from neurodevelopmental disorder (MONDO:0700092), LRRC7-related to Intellectual developmental disorder, autosomal dominant 77, MIM# 621415","entity_name":"LRRC7","entity_type":"gene"},{"created":"2025-11-19T08:24:10.184403+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3570","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LRRC7: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 77, MIM# 621415","entity_name":"LRRC7","entity_type":"gene"},{"created":"2025-11-18T21:00:24.964072+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.571","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TSEN54 as ready","entity_name":"TSEN54","entity_type":"gene"},{"created":"2025-11-18T21:00:24.956490+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.571","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tsen54 has been classified as Green List (High Evidence).","entity_name":"TSEN54","entity_type":"gene"},{"created":"2025-11-18T21:00:21.630019+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.571","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TSEN54 were changed from  to Pontocerebellar hypoplasia type 2A, MIM# 277470; Pontocerebellar hypoplasia type 4, MIM# 225753","entity_name":"TSEN54","entity_type":"gene"},{"created":"2025-11-18T20:59:52.147065+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.570","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TSEN54 were set to ","entity_name":"TSEN54","entity_type":"gene"},{"created":"2025-11-18T20:59:21.997548+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.569","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TSEN54 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSEN54","entity_type":"gene"},{"created":"2025-11-18T20:58:50.305949+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.568","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association.\r\n\r\nIndividuals homozygous for the common TSEN54 missense mutation A307S are reported to have a phenotype consistent with PCH2, whereas those who were compound heterozygous for A307S and a different TSEN54 mutation have a more severe phenotype consistent with PCH4.; to: Well established gene-disease association.\r\n\r\nIndividuals homozygous for the common TSEN54 missense mutation A307S are reported to have a phenotype consistent with PCH2, whereas those who were compound heterozygous for A307S and a different TSEN54 mutation have a more severe phenotype consistent with PCH4.\r\n\r\nMultiple contractures are part of the phenotype.","entity_name":"TSEN54","entity_type":"gene"},{"created":"2025-11-18T20:58:35.679091+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.568","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TSEN54: Changed publications: 18711368, 20956791, 20952379, 20301773","entity_name":"TSEN54","entity_type":"gene"},{"created":"2025-11-18T20:57:50.327709+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.568","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene TSEN54 from panel Cerebellar and Pontocerebellar Hypoplasia","entity_name":null,"entity_type":null},{"created":"2025-11-18T20:56:00.071616+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.567","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX3 as ready","entity_name":"PEX3","entity_type":"gene"},{"created":"2025-11-18T20:56:00.054147+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.567","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex3 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX3","entity_type":"gene"},{"created":"2025-11-18T20:55:55.778621+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.567","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PEX3 were changed from  to Peroxisome biogenesis disorder 10A (Zellweger) MIM#614882","entity_name":"PEX3","entity_type":"gene"},{"created":"2025-11-18T20:55:32.071418+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.566","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PEX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX3","entity_type":"gene"},{"created":"2025-11-18T20:55:10.276224+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.565","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PEX3 as Amber List (moderate evidence)","entity_name":"PEX3","entity_type":"gene"},{"created":"2025-11-18T20:55:10.265622+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.565","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex3 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX3","entity_type":"gene"},{"created":"2025-11-18T20:54:43.629835+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.564","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PEX3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 10A (Zellweger) MIM#614882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX3","entity_type":"gene"},{"created":"2025-11-18T20:53:03.170463+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.564","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX26 as ready","entity_name":"PEX26","entity_type":"gene"},{"created":"2025-11-18T20:53:03.159696+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.564","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex26 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX26","entity_type":"gene"},{"created":"2025-11-18T20:52:59.509403+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.564","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PEX26 were changed from  to Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872","entity_name":"PEX26","entity_type":"gene"},{"created":"2025-11-18T20:52:29.129535+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.563","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PEX26 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX26","entity_type":"gene"},{"created":"2025-11-18T20:52:06.499512+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.562","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PEX26 as Amber List (moderate evidence)","entity_name":"PEX26","entity_type":"gene"},{"created":"2025-11-18T20:52:06.492224+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.562","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex26 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX26","entity_type":"gene"},{"created":"2025-11-18T20:51:38.836777+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.561","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PEX26: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX26","entity_type":"gene"},{"created":"2025-11-18T20:49:33.805814+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.561","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX2 as ready","entity_name":"PEX2","entity_type":"gene"},{"created":"2025-11-18T20:49:33.799051+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.561","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex2 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX2","entity_type":"gene"},{"created":"2025-11-18T20:49:30.264114+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.561","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PEX2 were changed from  to Peroxisome biogenesis disorder 5A (Zellweger) - MIM#614866","entity_name":"PEX2","entity_type":"gene"},{"created":"2025-11-18T20:49:05.055697+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.560","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PEX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX2","entity_type":"gene"},{"created":"2025-11-18T20:34:31.933813+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.559","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PEX2 as Amber List (moderate evidence)","entity_name":"PEX2","entity_type":"gene"},{"created":"2025-11-18T20:34:31.923944+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.559","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex2 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX2","entity_type":"gene"},{"created":"2025-11-18T20:34:05.176044+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.558","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PEX2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 5A (Zellweger) - MIM#614866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX2","entity_type":"gene"},{"created":"2025-11-18T20:31:59.393012+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.558","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL6A3 as ready","entity_name":"COL6A3","entity_type":"gene"},{"created":"2025-11-18T20:31:59.382736+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.558","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col6a3 has been classified as Green List (High Evidence).","entity_name":"COL6A3","entity_type":"gene"},{"created":"2025-11-18T20:30:39.067601+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.558","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL6A3 were changed from  to Bethlem myopathy, MIM#158810; Ullrich congenital muscular dystrophy, MIM#254090","entity_name":"COL6A3","entity_type":"gene"},{"created":"2025-11-18T20:30:15.433704+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.557","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COL6A3 were set to ","entity_name":"COL6A3","entity_type":"gene"},{"created":"2025-11-18T20:29:49.101835+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.556","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COL6A3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"COL6A3","entity_type":"gene"},{"created":"2025-11-18T20:29:19.775576+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.555","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene. \nSources: Expert list; to: Well established gene-disease associations, contractures are a feature of both.\r\nSources: Expert list","entity_name":"COL6A3","entity_type":"gene"},{"created":"2025-11-18T20:28:47.305299+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.555","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene COL6A3 from panel Myopathy - paediatric onset","entity_name":null,"entity_type":null},{"created":"2025-11-18T18:38:05.484350+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.554","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL6A1 as ready","entity_name":"COL6A1","entity_type":"gene"},{"created":"2025-11-18T18:38:05.475953+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.554","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col6a1 has been classified as Green List (High Evidence).","entity_name":"COL6A1","entity_type":"gene"},{"created":"2025-11-18T18:38:03.013014+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.554","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL6A1 were changed from  to Bethlem myopathy MIM#158810; Ullrich congenital muscular dystrophy MIM#254090","entity_name":"COL6A1","entity_type":"gene"},{"created":"2025-11-18T18:37:41.066062+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.553","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COL6A1 were set to ","entity_name":"COL6A1","entity_type":"gene"},{"created":"2025-11-18T18:37:12.575079+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.552","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COL6A1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"COL6A1","entity_type":"gene"},{"created":"2025-11-18T18:36:46.330504+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.551","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene COL6A1 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-18T18:36:22.911597+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.550","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COL6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"COL6A1","entity_type":"gene"},{"created":"2025-11-18T18:35:31.634815+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.550","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL6A2 as ready","entity_name":"COL6A2","entity_type":"gene"},{"created":"2025-11-18T18:35:31.622521+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.550","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col6a2 has been classified as Green List (High Evidence).","entity_name":"COL6A2","entity_type":"gene"},{"created":"2025-11-18T18:35:25.425195+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.550","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL6A2 were changed from  to Bethlem myopathy 1 MIM#158810; Ullrich congenital muscular dystrophy 1 MIM#254090","entity_name":"COL6A2","entity_type":"gene"},{"created":"2025-11-18T18:34:57.052908+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.549","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COL6A2 were set to ","entity_name":"COL6A2","entity_type":"gene"},{"created":"2025-11-18T18:34:36.641760+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.548","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COL6A2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"COL6A2","entity_type":"gene"},{"created":"2025-11-18T18:34:03.108507+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.547","user_name":"Zornitza Stark","item_type":"panel","text":"Added reviews for gene COL6A2 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-18T18:33:54.120416+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.546","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COL6A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"COL6A2","entity_type":"gene"},{"created":"2025-11-18T13:49:14.466918+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.546","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX19 as ready","entity_name":"PEX19","entity_type":"gene"},{"created":"2025-11-18T13:49:14.457495+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.546","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex19 has been classified as Green List (High Evidence).","entity_name":"PEX19","entity_type":"gene"},{"created":"2025-11-18T13:49:11.888339+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.546","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PEX19 were changed from  to Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886","entity_name":"PEX19","entity_type":"gene"},{"created":"2025-11-18T13:48:45.575660+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.545","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PEX19 were set to ","entity_name":"PEX19","entity_type":"gene"},{"created":"2025-11-18T13:48:16.984791+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.544","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PEX19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX19","entity_type":"gene"},{"created":"2025-11-18T13:47:47.777592+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.543","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PEX19: Rating: GREEN; Mode of pathogenicity: None; Publications: 36931687; Phenotypes: Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX19","entity_type":"gene"},{"created":"2025-11-18T13:45:27.780219+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.543","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX16 as ready","entity_name":"PEX16","entity_type":"gene"},{"created":"2025-11-18T13:45:27.769105+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.543","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex16 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX16","entity_type":"gene"},{"created":"2025-11-18T13:45:25.527576+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.543","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PEX16 were changed from  to Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876","entity_name":"PEX16","entity_type":"gene"},{"created":"2025-11-18T13:44:56.765175+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.542","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PEX16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX16","entity_type":"gene"},{"created":"2025-11-18T13:44:30.190264+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.541","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PEX16 as Amber List (moderate evidence)","entity_name":"PEX16","entity_type":"gene"},{"created":"2025-11-18T13:44:30.172752+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.541","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex16 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX16","entity_type":"gene"},{"created":"2025-11-18T13:44:07.046117+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.540","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PEX16: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX16","entity_type":"gene"}]}