{"count":220817,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=185","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=183","results":[{"created":"2025-08-26T20:18:44.834315+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkar1a has been classified as Green List (High Evidence).","entity_name":"PRKAR1A","entity_type":"gene"},{"created":"2025-08-26T20:18:41.874182+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRKAR1A were changed from  to Acrodysostosis 1, with or without hormone resistance, MIM# 101800","entity_name":"PRKAR1A","entity_type":"gene"},{"created":"2025-08-26T20:18:17.717005+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRKAR1A were set to ","entity_name":"PRKAR1A","entity_type":"gene"},{"created":"2025-08-26T20:17:52.846148+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PRKAR1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PRKAR1A","entity_type":"gene"},{"created":"2025-08-26T20:17:20.642657+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNAS as ready","entity_name":"GNAS","entity_type":"gene"},{"created":"2025-08-26T20:17:20.632365+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnas has been classified as Green List (High Evidence).","entity_name":"GNAS","entity_type":"gene"},{"created":"2025-08-26T20:17:17.381405+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GNAS were changed from  to Pseudohypoparathyroidism Ia (103580) AD; Pseudohypoparathyroidism Ib (603233) AD; Pseudohypoparathyroidism Ic (612462) AD; Pseudopseudohypoparathyroidism (612463); Osseous heteroplasia, progressive (166350) AD; Pituitary adenoma 3, multiple types, somatic (617686)","entity_name":"GNAS","entity_type":"gene"},{"created":"2025-08-26T20:17:03.498277+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GNAS was changed from Unknown to Other","entity_name":"GNAS","entity_type":"gene"},{"created":"2025-08-26T20:16:19.960177+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTHLH as ready","entity_name":"PTHLH","entity_type":"gene"},{"created":"2025-08-26T20:16:19.953711+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pthlh has been classified as Green List (High Evidence).","entity_name":"PTHLH","entity_type":"gene"},{"created":"2025-08-26T20:16:17.993862+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTHLH were changed from  to Brachydactyly, type E2, MIM# 613382","entity_name":"PTHLH","entity_type":"gene"},{"created":"2025-08-26T20:15:57.490262+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PTHLH were set to ","entity_name":"PTHLH","entity_type":"gene"},{"created":"2025-08-26T20:14:41.542159+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HOXD13 as ready","entity_name":"HOXD13","entity_type":"gene"},{"created":"2025-08-26T20:14:41.531457+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hoxd13 has been classified as Green List (High Evidence).","entity_name":"HOXD13","entity_type":"gene"},{"created":"2025-08-26T20:14:37.917622+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HOXD13 were changed from  to Brachydactyly, type E, 113300","entity_name":"HOXD13","entity_type":"gene"},{"created":"2025-08-26T20:14:14.481260+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HOXD13 were set to ","entity_name":"HOXD13","entity_type":"gene"},{"created":"2025-08-26T20:13:41.776917+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HOXD13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HOXD13","entity_type":"gene"},{"created":"2025-08-26T20:13:08.040181+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBCE as ready","entity_name":"TBCE","entity_type":"gene"},{"created":"2025-08-26T20:13:08.029538+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbce has been classified as Red List (Low Evidence).","entity_name":"TBCE","entity_type":"gene"},{"created":"2025-08-26T20:13:05.996133+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TBCE were changed from  to Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410","entity_name":"TBCE","entity_type":"gene"},{"created":"2025-08-26T20:12:39.231016+10:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TBCE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TBCE","entity_type":"gene"},{"created":"2025-08-26T20:11:51.619968+10:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"1.48","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDKN1C as ready","entity_name":"CDKN1C","entity_type":"gene"},{"created":"2025-08-26T20:11:51.609471+10:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"1.48","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdkn1c has been classified as Green List (High Evidence).","entity_name":"CDKN1C","entity_type":"gene"},{"created":"2025-08-26T20:11:33.492406+10:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"1.48","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADK as ready","entity_name":"ADK","entity_type":"gene"},{"created":"2025-08-26T20:11:33.481760+10:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"1.48","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adk has been classified as Green List (High Evidence).","entity_name":"ADK","entity_type":"gene"},{"created":"2025-08-26T20:11:12.476620+10:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"1.48","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FAH as ready","entity_name":"FAH","entity_type":"gene"},{"created":"2025-08-26T20:11:12.461599+10:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"1.48","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fah has been classified as Green List (High Evidence).","entity_name":"FAH","entity_type":"gene"},{"created":"2025-08-26T20:10:51.609872+10:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"1.48","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EIF2S3 were set to ","entity_name":"EIF2S3","entity_type":"gene"},{"created":"2025-08-26T20:10:14.997197+10:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"1.47","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HRAS as ready","entity_name":"HRAS","entity_type":"gene"},{"created":"2025-08-26T20:10:14.984463+10:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"1.47","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hras has been classified as Green List (High Evidence).","entity_name":"HRAS","entity_type":"gene"},{"created":"2025-08-26T20:09:20.554098+10:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"1.47","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRMT10A were set to ","entity_name":"TRMT10A","entity_type":"gene"},{"created":"2025-08-26T20:08:41.696315+10:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"1.46","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: YARS as ready","entity_name":"YARS","entity_type":"gene"},{"created":"2025-08-26T20:08:41.685555+10:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"1.46","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: yars has been classified as Red List (Low Evidence).","entity_name":"YARS","entity_type":"gene"},{"created":"2025-08-26T20:04:13.294130+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2877","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLEKHG5 were changed from Charcot-Marie-Tooth disease, recessive intermediate C, MIM# 615376; Spinal muscular atrophy, distal, autosomal recessive, 4, MIM# 611067 to hereditary peripheral neuropathy MONDO:0020127, PLEKHG5-related","entity_name":"PLEKHG5","entity_type":"gene"},{"created":"2025-08-26T20:03:30.651424+10:00","panel_name":"Familial hypoparathyroidism","panel_id":3894,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBX1 as ready","entity_name":"TBX1","entity_type":"gene"},{"created":"2025-08-26T20:03:30.641358+10:00","panel_name":"Familial hypoparathyroidism","panel_id":3894,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbx1 has been classified as Green List (High Evidence).","entity_name":"TBX1","entity_type":"gene"},{"created":"2025-08-26T20:03:24.446301+10:00","panel_name":"Familial hypoparathyroidism","panel_id":3894,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TBX1 were set to PMID: 20301696, 16684884, 14585638, 30137364","entity_name":"TBX1","entity_type":"gene"},{"created":"2025-08-26T20:02:32.293574+10:00","panel_name":"Pain syndromes","panel_id":3126,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLEKHN1 were changed from Sensory Neuropathy to Hereditary sensory and autonomic neuropathy, MONDO:0015364, PLEKHN1-related","entity_name":"PLEKHN1","entity_type":"gene"},{"created":"2025-08-26T20:02:16.344079+10:00","panel_name":"Pain syndromes","panel_id":3126,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PLEKHN1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLEKHN1","entity_type":"gene"},{"created":"2025-08-26T20:02:09.297319+10:00","panel_name":"Pain syndromes","panel_id":3126,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PLEKHN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hereditary sensory and autonomic neuropathy, MONDO:0015364, PLEKHN1-related; Mode of inheritance: None","entity_name":"PLEKHN1","entity_type":"gene"},{"created":"2025-08-26T20:01:52.973229+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2876","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLEKHN1 were changed from Sensory Neuropathy to Hereditary sensory and autonomic neuropathy, MONDO:0015364, PLEKHN1-related","entity_name":"PLEKHN1","entity_type":"gene"},{"created":"2025-08-26T20:00:42.070172+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2875","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CYP3A4 were set to 29461981","entity_name":"CYP3A4","entity_type":"gene"},{"created":"2025-08-26T19:58:24.278297+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.179","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TRIO was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TRIO","entity_type":"gene"},{"created":"2025-08-26T18:09:18.244404+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TAOK2 were changed from Generalized verrucosis; abnormal T cell activation to Inborn error of immunity, MONDO:0003778, TAOK2-related","entity_name":"TAOK2","entity_type":"gene"},{"created":"2025-08-26T18:08:52.640318+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TAOK2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Inborn error of immunity, MONDO:0003778, TAOK2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TAOK2","entity_type":"gene"},{"created":"2025-08-26T17:24:03.816255+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SYP were changed from Mental retardation, X-linked 96, 300802 (3) to Intellectual developmental disorder, X-linked 96, MIM# 300802","entity_name":"SYP","entity_type":"gene"},{"created":"2025-08-26T17:23:54.348077+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SYP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 96, MIM# 300802; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"SYP","entity_type":"gene"},{"created":"2025-08-26T17:23:31.991702+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.230","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SYP were changed from Mental retardation, X-linked 96 MIM#300802 to Intellectual developmental disorder, X-linked 96, MIM# 300802","entity_name":"SYP","entity_type":"gene"},{"created":"2025-08-26T17:23:08.308547+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.229","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SYP: Changed phenotypes: Intellectual developmental disorder, X-linked 96, MIM# 300802","entity_name":"SYP","entity_type":"gene"},{"created":"2025-08-26T17:22:48.542813+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2874","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SYP were changed from Mental retardation, X-linked 96 MIM#300802 to Intellectual developmental disorder, X-linked 96, MIM# 300802","entity_name":"SYP","entity_type":"gene"},{"created":"2025-08-26T17:22:28.042785+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2873","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SYP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 96, MIM# 300802; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"SYP","entity_type":"gene"},{"created":"2025-08-26T17:11:15.931049+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2873","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SYNCRIP were changed from Global developmental delay; Intellectual disability; Autism; Myoclonic atonic seizures; Abnormality of nervous system morphology to Neurodevelopmental disorder, MONDO:0700092, SYNCRIP-related","entity_name":"SYNCRIP","entity_type":"gene"},{"created":"2025-08-26T17:10:57.895050+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2872","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SYNCRIP: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, SYNCRIP-related","entity_name":"SYNCRIP","entity_type":"gene"},{"created":"2025-08-26T17:05:22.427344+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2872","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SYCP2 were changed from Male infertility to Spermatogenic failure 1, MIM# 258150","entity_name":"SYCP2","entity_type":"gene"},{"created":"2025-08-26T17:04:41.214577+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2871","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SYCP2: Changed phenotypes: Spermatogenic failure 1, MIM# 258150","entity_name":"SYCP2","entity_type":"gene"},{"created":"2025-08-26T16:56:42.392722+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2871","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SUFU were changed from Joubert syndrome 32, MIM#617757; SUFU-related neurodevelopmental syndrome; Basal cell nevus syndrome, MIM# 109400 to Joubert syndrome 32, MIM#617757; Neurodevelopmental disorder, MONDO:0700092, SUFU-related; Basal cell nevus syndrome, MIM# 109400","entity_name":"SUFU","entity_type":"gene"},{"created":"2025-08-26T16:56:19.457082+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2870","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SUFU: Changed phenotypes: Joubert syndrome 32, MIM#617757, Neurodevelopmental disorder, MONDO:0700092, SUFU-related, Basal cell nevus syndrome, MIM# 109400","entity_name":"SUFU","entity_type":"gene"},{"created":"2025-08-26T16:55:13.007750+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.81","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SUFU were changed from Joubert syndrome 32, MIM#617757; SUFU-related neurodevelopmental disorder, Joubert-like to Joubert syndrome 32, MIM#617757; Neurodevelopmental disorder, MONDO:0700092, SUFU-related","entity_name":"SUFU","entity_type":"gene"},{"created":"2025-08-26T16:52:53.429217+10:00","panel_name":"Osteogenesis Imperfecta and Osteoporosis","panel_id":147,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SUCO were changed from Osteogenesis imperfecta to Osteogenesis imperfecta, MONDO:0019019, SUCO-related","entity_name":"SUCO","entity_type":"gene"},{"created":"2025-08-26T16:52:31.807110+10:00","panel_name":"Osteogenesis Imperfecta and Osteoporosis","panel_id":147,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SUCO: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, MONDO:0019019, SUCO-related; Mode of inheritance: None","entity_name":"SUCO","entity_type":"gene"},{"created":"2025-08-26T16:52:16.864547+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2870","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SUCO were changed from Osteogenesis imperfecta to Osteogenesis imperfecta, MONDO:0019019, SUCO-related","entity_name":"SUCO","entity_type":"gene"},{"created":"2025-08-26T16:51:57.480397+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2869","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SUCO: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, MONDO:0019019, SUCO-related; Mode of inheritance: None","entity_name":"SUCO","entity_type":"gene"},{"created":"2025-08-26T16:50:53.530565+10:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.13","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STXBP3 were changed from Very Early Onset Inflammatory Bowel Disease; Bilateral Sensorineural Hearing Loss; Immune Dysregulation to Inborn error of immunity, MONDO:0003778, STXBP3-related","entity_name":"STXBP3","entity_type":"gene"},{"created":"2025-08-26T16:50:28.827856+10:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.12","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: STXBP3: Changed phenotypes: Inborn error of immunity, MONDO:0003778, STXBP3-related","entity_name":"STXBP3","entity_type":"gene"},{"created":"2025-08-26T16:46:03.144887+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.219","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STXBP3 were changed from Very Early Onset Inflammatory Bowel Disease; Bilateral Sensorineural Hearing Loss; Immune Dysregulation to Inborn error of immunity, MONDO:0003778, STXBP3-related","entity_name":"STXBP3","entity_type":"gene"},{"created":"2025-08-26T16:45:35.552576+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.218","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: STXBP3: Changed phenotypes: Inborn error of immunity, MONDO:0003778, STXBP3-related","entity_name":"STXBP3","entity_type":"gene"},{"created":"2025-08-26T16:45:20.016538+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2869","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STXBP3 were changed from Very Early Onset Inflammatory Bowel Disease; Bilateral Sensorineural Hearing Loss; Immune Dysregulation to Inborn error of immunity, MONDO:0003778, STXBP3-related","entity_name":"STXBP3","entity_type":"gene"},{"created":"2025-08-26T16:45:05.064100+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2868","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: STXBP3: Changed phenotypes: Inborn error of immunity, MONDO:0003778, STXBP3-related","entity_name":"STXBP3","entity_type":"gene"},{"created":"2025-08-26T16:44:47.504007+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STXBP3 were changed from Very Early Onset Inflammatory Bowel Disease; Bilateral Sensorineural Hearing Loss; Immune Dysregulation to Inborn error of immunity, MONDO:0003778, STXBP3-related","entity_name":"STXBP3","entity_type":"gene"},{"created":"2025-08-26T16:44:20.856531+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: STXBP3: Changed phenotypes: Inborn error of immunity, MONDO:0003778, STXBP3-related","entity_name":"STXBP3","entity_type":"gene"},{"created":"2025-08-26T15:33:12.599568+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RBM10 was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"RBM10","entity_type":"gene"},{"created":"2025-08-26T14:55:44.164922+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.178","user_name":"Chris Ciotta","item_type":"entity","text":"reviewed gene: TRIO: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 32109419, 28796471; Phenotypes: Intellectual developmental disorder, autosomal dominant 44, with microcephaly (MIM#617061), Intellectual developmental disorder, autosomal dominant 63, with macrocephaly (MIM#618825), Syndromic intellectual disability (MONDO:0000508), TRIO-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"TRIO","entity_type":"gene"},{"created":"2025-08-26T14:00:38.493851+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.396","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SRGAP1 were changed from congenital anomalies of the kidney and urinary tract to CAKUT, MONDO:0019719, SRGAP1-related","entity_name":"SRGAP1","entity_type":"gene"},{"created":"2025-08-26T14:00:26.881984+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.395","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SRGAP1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: CAKUT, MONDO:0019719, SRGAP1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SRGAP1","entity_type":"gene"},{"created":"2025-08-26T14:00:05.951399+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2868","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SRGAP1 were changed from CAKUT to CAKUT, MONDO:0019719, SRGAP1-related","entity_name":"SRGAP1","entity_type":"gene"},{"created":"2025-08-26T13:59:49.855946+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2867","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SRGAP1: Changed rating: AMBER; Changed phenotypes: CAKUT, MONDO:0019719, SRGAP1-related; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SRGAP1","entity_type":"gene"},{"created":"2025-08-26T12:14:09.797225+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.95","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: TLN1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 39163585, 30888838; Phenotypes: Idiopathic spontaneous coronary artery dissection MONDO:0007385; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TLN1","entity_type":"gene"},{"created":"2025-08-25T10:30:34.518863+10:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"1.24","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NOTCH3 as ready","entity_name":"NOTCH3","entity_type":"gene"},{"created":"2025-08-25T10:30:34.507779+10:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"1.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: notch3 has been classified as Amber List (Moderate Evidence).","entity_name":"NOTCH3","entity_type":"gene"},{"created":"2025-08-25T10:30:25.843711+10:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"1.24","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NOTCH3 as Amber List (moderate evidence)","entity_name":"NOTCH3","entity_type":"gene"},{"created":"2025-08-25T10:30:25.833653+10:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"1.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: notch3 has been classified as Amber List (Moderate Evidence).","entity_name":"NOTCH3","entity_type":"gene"},{"created":"2025-08-25T10:29:51.492677+10:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NOTCH3 was added\ngene: NOTCH3 was added to Lipodystrophy_Lipoatrophy. Sources: Literature\nMode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NOTCH3 were set to 39652711\nPhenotypes for gene: NOTCH3 were set to Lipodystrophy, familial partial, type 1, MIM#608600\nReview for gene: NOTCH3 was set to AMBER\nAdded comment: Three families reported with novel missense variants in NOTCH3 and partial lipodystrophy. Variant segregated with phenotype in 4 affected individuals of one family but no additional supportive data presented. Some functional data to suggest GoF mechanism. \nSources: Literature","entity_name":"NOTCH3","entity_type":"gene"},{"created":"2025-08-22T17:15:13.162496+10:00","panel_name":"Hyperthyroidism","panel_id":3372,"panel_version":"0.24","user_name":"Chirag Patel","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2025-08-22T17:11:01.014679+10:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.36","user_name":"Chirag Patel","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Royal Melbourne Hospital","entity_name":null,"entity_type":null},{"created":"2025-08-22T17:07:51.955220+10:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.35","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: SGMS2 as Red List (low evidence)","entity_name":"SGMS2","entity_type":"gene"},{"created":"2025-08-22T17:07:51.942237+10:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.35","user_name":"Chirag Patel","item_type":"entity","text":"Gene: sgms2 has been classified as Red List (Low Evidence).","entity_name":"SGMS2","entity_type":"gene"},{"created":"2025-08-22T17:07:41.057836+10:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.35","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: SGMS2 as Red List (low evidence)","entity_name":"SGMS2","entity_type":"gene"},{"created":"2025-08-22T17:07:41.037182+10:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.35","user_name":"Chirag Patel","item_type":"entity","text":"Gene: sgms2 has been classified as Red List (Low Evidence).","entity_name":"SGMS2","entity_type":"gene"},{"created":"2025-08-22T17:07:09.623490+10:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.34","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: SGMS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"SGMS2","entity_type":"gene"},{"created":"2025-08-22T16:59:15.055751+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2867","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COPZ1 as ready","entity_name":"COPZ1","entity_type":"gene"},{"created":"2025-08-22T16:59:15.022947+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2867","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: copz1 has been classified as Amber List (Moderate Evidence).","entity_name":"COPZ1","entity_type":"gene"},{"created":"2025-08-22T16:59:08.628151+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2867","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COPZ1 as Amber List (moderate evidence)","entity_name":"COPZ1","entity_type":"gene"},{"created":"2025-08-22T16:59:08.618513+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2867","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: copz1 has been classified as Amber List (Moderate Evidence).","entity_name":"COPZ1","entity_type":"gene"},{"created":"2025-08-22T16:58:53.286781+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2866","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COPZ1 was added\ngene: COPZ1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: COPZ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COPZ1 were set to 39642330\nPhenotypes for gene: COPZ1 were set to Severe congenital neutropenia, autosomal recessive, MONDO:0028226, COPZ1-related\nReview for gene: COPZ1 was set to AMBER\nAdded comment: 3 individuals from 2 unrelated families reported. A pair of siblings with homozygous LoF variant and a more severe phenotype, comprising other immune defects, neurological and skeletal features. An additional individual with homozygous missense variant and a milder phenotype of isolated neutropenia. Some supportive functional data. AMBER rating as only two families and homozygous variants. \nSources: Literature","entity_name":"COPZ1","entity_type":"gene"},{"created":"2025-08-22T16:57:32.247300+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.37","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COPZ1 as ready","entity_name":"COPZ1","entity_type":"gene"},{"created":"2025-08-22T16:57:32.237361+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: copz1 has been classified as Amber List (Moderate Evidence).","entity_name":"COPZ1","entity_type":"gene"},{"created":"2025-08-22T16:57:29.929177+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.37","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COPZ1 as Amber List (moderate evidence)","entity_name":"COPZ1","entity_type":"gene"},{"created":"2025-08-22T16:57:29.917281+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: copz1 has been classified as Amber List (Moderate Evidence).","entity_name":"COPZ1","entity_type":"gene"},{"created":"2025-08-22T16:57:07.887998+10:00","panel_name":"Hypophosphataemia or rickets","panel_id":122,"panel_version":"0.42","user_name":"Chirag Patel","item_type":"panel","text":"Panel name changed from Hypophosphataemic Rickets to Hypophosphataemia or rickets","entity_name":null,"entity_type":null},{"created":"2025-08-22T16:57:04.044669+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.36","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COPZ1 was added\ngene: COPZ1 was added to Phagocyte Defects. Sources: Literature\nMode of inheritance for gene: COPZ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COPZ1 were set to 39642330\nPhenotypes for gene: COPZ1 were set to Severe congenital neutropenia, autosomal recessive, MONDO:0028226, COPZ1-related\nReview for gene: COPZ1 was set to AMBER\nAdded comment: 3 individuals from 2 unrelated families reported. A pair of siblings with homozygous LoF variant and a more severe phenotype, comprising other immune defects, neurological and skeletal features. An additional individual with homozygous missense variant and a milder phenotype of isolated neutropenia. Some supportive functional data.\r\n\r\nAMBER rating as only two families and homozygous variants. \nSources: Literature","entity_name":"COPZ1","entity_type":"gene"}]}