{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1831","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1829","results":[{"created":"2020-04-20T16:00:32.548388+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GSX2 was added\ngene: GSX2 was added to Dystonia - complex. Sources: Literature\nMode of inheritance for gene: GSX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GSX2 were set to 31412107\nPhenotypes for gene: GSX2 were set to Diencephalic-mesencephalic junction dysplasia syndrome 2\t618646; Intellectual disability; Dystonia; Spastic tetra paresis\nReview for gene: GSX2 was set to AMBER\nAdded comment: Two unrelated families, some functional data. \nSources: Literature","entity_name":"GSX2","entity_type":"gene"},{"created":"2020-04-20T16:00:06.463147+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2544","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GSX2 as Amber List (moderate evidence)","entity_name":"GSX2","entity_type":"gene"},{"created":"2020-04-20T16:00:06.453627+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2544","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gsx2 has been classified as Amber List (Moderate Evidence).","entity_name":"GSX2","entity_type":"gene"},{"created":"2020-04-20T15:59:22.825868+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2440","user_name":"Elena Savva","item_type":"entity","text":"gene: UBA2 was added\ngene: UBA2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: UBA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: UBA2 were set to PMID: 31332306; 31587267\nPhenotypes for gene: UBA2 were set to Split-Hand/Foot Malformation; Aplasia Cutis Congenita; Ectrodactyly\nPenetrance for gene: UBA2 were set to unknown\nReview for gene: UBA2 was set to AMBER\nAdded comment: No OMIM phenotype\r\n\r\nPMID: 31332306 - a single patient with a de novo PTC and split hand/foot malformation (SHFM). Additional two multigenic CNVs including this gene in patients with SHFM and ectrodactyly. Authors mention an additional de novo missense but the patient didnt have SHFM, argue low penetrance\r\n\r\nPMID: 31587267 - a mother and son with aplasia cutis congenita (ACC), with a heterozygous PTC. Son also has ectrodactyly. Authors note an additional de novo missense in a patient with ACC. \nSources: Literature","entity_name":"UBA2","entity_type":"gene"},{"created":"2020-04-20T15:59:14.671877+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2543","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GSX2 was added\ngene: GSX2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: GSX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GSX2 were set to 31412107\nPhenotypes for gene: GSX2 were set to Diencephalic-mesencephalic junction dysplasia syndrome 2\t618646; Intellectual disability; Dystonia; Spastic tetra paresis\nReview for gene: GSX2 was set to AMBER\nAdded comment: Two unrelated families, some functional data. \nSources: Literature","entity_name":"GSX2","entity_type":"gene"},{"created":"2020-04-20T15:59:03.591047+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2440","user_name":"Natalie Tan","item_type":"entity","text":"changed review comment from: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence):\r\n- Dominant ORAI1 missense variants via a GOF mechanism cause a spectrum of myopathy covering tubular aggregate myopathy/TAM and Stormorken syndrome/STRMK (slowly progressive muscle weakness with variable multisystemic disease including non-specific dysmorphism, a/hyposplenia, ichthyosis, cytopenias)\r\n- Recessive ORAI1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy); to: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence):\r\n- Dominant ORAI1 missense variants via a GOF mechanism cause a spectrum of myopathy covering tubular aggregate myopathy/TAM and Stormorken syndrome/STRMK (slowly progressive muscle weakness with variable multisystemic disease including non-specific dysmorphism, a/hyposplenia, ichthyosis, cytopenias)\r\n- Recessive ORAI1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy)","entity_name":"ORAI1","entity_type":"gene"},{"created":"2020-04-20T15:58:22.762237+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2440","user_name":"Natalie Tan","item_type":"entity","text":"reviewed gene: ORAI1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 31448844; Phenotypes: Progressive myopathy, contractures; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"ORAI1","entity_type":"gene"},{"created":"2020-04-20T15:57:33.248386+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2440","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GSX2 as ready","entity_name":"GSX2","entity_type":"gene"},{"created":"2020-04-20T15:57:33.242644+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2440","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Intellectual disability, spastic tetraparesis, dystonia","entity_name":"GSX2","entity_type":"gene"},{"created":"2020-04-20T15:57:33.201088+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2440","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gsx2 has been classified as Amber List (Moderate Evidence).","entity_name":"GSX2","entity_type":"gene"},{"created":"2020-04-20T15:57:13.703854+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2440","user_name":"Michelle Torres","item_type":"entity","text":"gene: REC114 was added\ngene: REC114 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: REC114 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: REC114 were set to 30388401; 31704776\nPhenotypes for gene: REC114 were set to Female infertility\nReview for gene: REC114 was set to GREEN\nAdded comment: Three variants reported are either within or flanking exon 4.\r\n- One hom patient (splice) had a miscarriage, 2 spontaneous complete hydatidiform moles, and 1 complete hydatidiform mole following intrauterine sperm injection (PMID: 30388401)\r\n- Two hom unrelated patients from consanguineous families with abnormal pronuclear formation during fertilisation and subsequent early embrionic arrest resulting in female infertility. Both variants (1 missense and 1 splice) were shown to result in LoF (PMID: 31704776) \nSources: Literature","entity_name":"REC114","entity_type":"gene"},{"created":"2020-04-20T15:56:38.044401+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2440","user_name":"Kristin Rigbye","item_type":"entity","text":"reviewed gene: AGTPBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30420557; Phenotypes: Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy, Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AGTPBP1","entity_type":"gene"},{"created":"2020-04-20T15:56:24.747102+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2440","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GSX2 as ready","entity_name":"GSX2","entity_type":"gene"},{"created":"2020-04-20T15:56:24.738690+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2440","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gsx2 has been classified as Amber List (Moderate Evidence).","entity_name":"GSX2","entity_type":"gene"},{"created":"2020-04-20T15:56:11.912614+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2440","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GSX2 as Amber List (moderate evidence)","entity_name":"GSX2","entity_type":"gene"},{"created":"2020-04-20T15:56:11.903847+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2440","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gsx2 has been classified as Amber List (Moderate Evidence).","entity_name":"GSX2","entity_type":"gene"},{"created":"2020-04-20T15:55:58.701674+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2439","user_name":"Ain Roesley","item_type":"entity","text":"gene: C1orf194 was added\ngene: C1orf194 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: C1orf194 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: C1orf194 were set to PMID: 31199454\nPhenotypes for gene: C1orf194 were set to Charcot-Marie-Tooth\nReview for gene: C1orf194 was set to AMBER\nAdded comment: PMID: 31199454; 2 missense variants in 2 large families segregating in an AD pattern. Mouse models for one of the variants (p.(Ile121Asn) led to impairments in moto and neuromuscular functions \nSources: Literature","entity_name":"C1orf194","entity_type":"gene"},{"created":"2020-04-20T15:55:51.558549+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2439","user_name":"Teresa Zhao","item_type":"entity","text":"reviewed gene: SLC35D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31423530, 19508970; Phenotypes: Schneckenbecken dysplasia, MIM 269250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"SLC35D1","entity_type":"gene"},{"created":"2020-04-20T15:55:10.825314+10:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CREB3L1 as ready","entity_name":"CREB3L1","entity_type":"gene"},{"created":"2020-04-20T15:55:10.815692+10:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: creb3l1 has been classified as Green List (High Evidence).","entity_name":"CREB3L1","entity_type":"gene"},{"created":"2020-04-20T15:55:06.281358+10:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CREB3L1 were changed from  to Osteogenesis imperfecta, type XVI, 616229","entity_name":"CREB3L1","entity_type":"gene"},{"created":"2020-04-20T15:55:03.889518+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2439","user_name":"Paul De Fazio","item_type":"entity","text":"changed review comment from: 6 individuals with Treacher-Collins syndrome described: 3 with de novo variants, one inherited from a mosaic father, and two inherited from affected mothers. Knockdown in zebrafish mimics the phenotype. \nSources: Literature; to: 6 individuals with Treacher-Collins syndrome described: 3 with de novo variants, one inherited from a mosaic father, and two inherited from affected mothers. Knockdown in zebrafish mimics the phenotype. \r\nSources: Literature","entity_name":"POLR1B","entity_type":"gene"},{"created":"2020-04-20T15:54:41.595670+10:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CREB3L1 were set to ","entity_name":"CREB3L1","entity_type":"gene"},{"created":"2020-04-20T15:54:18.909641+10:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CREB3L1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CREB3L1","entity_type":"gene"},{"created":"2020-04-20T15:53:51.063541+10:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CREB3L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24079343, 28817112, 29936144, 30657919; Phenotypes: Osteogenesis imperfecta, type XVI, 616229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CREB3L1","entity_type":"gene"},{"created":"2020-04-20T15:53:37.869711+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2439","user_name":"Paul De Fazio","item_type":"entity","text":"gene: POLR1B was added\ngene: POLR1B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: POLR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POLR1B were set to 31649276\nPhenotypes for gene: POLR1B were set to bilateral malar and mandibular hypoplasia; microtia; coloboma; downslanting palpebral fissures; conductive deafness; cleft palate; heart malformations\nReview for gene: POLR1B was set to AMBER\ngene: POLR1B was marked as current diagnostic\nAdded comment: 6 individuals with Treacher-Collins syndrome described: 3 with de novo variants, one inherited from a mosaic father, and two inherited from affected mothers. Knockdown in zebrafish mimics the phenotype. \nSources: Literature","entity_name":"POLR1B","entity_type":"gene"},{"created":"2020-04-20T15:52:26.005520+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2439","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CREB3L1 as ready","entity_name":"CREB3L1","entity_type":"gene"},{"created":"2020-04-20T15:52:25.991329+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2439","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: creb3l1 has been classified as Green List (High Evidence).","entity_name":"CREB3L1","entity_type":"gene"},{"created":"2020-04-20T15:52:17.139306+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2439","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CREB3L1 were changed from  to Osteogenesis imperfecta, type XVI, MIM#616229","entity_name":"CREB3L1","entity_type":"gene"},{"created":"2020-04-20T15:52:01.356814+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2438","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CREB3L1 were set to ","entity_name":"CREB3L1","entity_type":"gene"},{"created":"2020-04-20T15:51:44.889321+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2437","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CREB3L1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CREB3L1","entity_type":"gene"},{"created":"2020-04-20T15:51:39.380092+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2436","user_name":"Naomi Baker","item_type":"entity","text":"gene: WARS was added\ngene: WARS was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: WARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WARS were set to PMID: 28369220; 31321409; 31069783.\nPhenotypes for gene: WARS were set to Neuronopathy, distal hereditary motor, type IX (OMIM:617721); juvenile to adult onset (15-23 years); distal wasting; distal weakness; length-dependent motor axonal degeneration\nReview for gene: WARS was set to GREEN\nAdded comment: 14 patients from five families were reported to have WARS-related neuropathy across three publications. Expression studies of mutant demonstrated decreased protein when compared to wild-type. \nSources: Literature","entity_name":"WARS","entity_type":"gene"},{"created":"2020-04-20T15:50:30.345386+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2436","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACKR3 as ready","entity_name":"ACKR3","entity_type":"gene"},{"created":"2020-04-20T15:50:30.336690+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2436","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ackr3 has been classified as Amber List (Moderate Evidence).","entity_name":"ACKR3","entity_type":"gene"},{"created":"2020-04-20T15:50:21.479360+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2436","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACKR3 were changed from Oculomotor synkinesis to Oculomotor synkinesis; Ptosis","entity_name":"ACKR3","entity_type":"gene"},{"created":"2020-04-20T15:50:07.158099+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2435","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ACKR3 as Amber List (moderate evidence)","entity_name":"ACKR3","entity_type":"gene"},{"created":"2020-04-20T15:50:07.145744+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2435","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ackr3 has been classified as Amber List (Moderate Evidence).","entity_name":"ACKR3","entity_type":"gene"},{"created":"2020-04-20T15:49:01.417804+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2434","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CYLD as ready","entity_name":"CYLD","entity_type":"gene"},{"created":"2020-04-20T15:49:01.403968+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2434","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyld has been classified as Green List (High Evidence).","entity_name":"CYLD","entity_type":"gene"},{"created":"2020-04-20T15:48:51.206529+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2434","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CYLD were changed from  to Brooke-Spiegler syndrome, 605041; Cylindromatosis, familial, 132700; Trichoepithelioma, multiple familial, 1, 601606; Frontotemporal dementia and amyotrophic lateral sclerosis","entity_name":"CYLD","entity_type":"gene"},{"created":"2020-04-20T15:48:36.605961+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2433","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CYLD were set to ","entity_name":"CYLD","entity_type":"gene"},{"created":"2020-04-20T15:48:19.074766+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2432","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CYLD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CYLD","entity_type":"gene"},{"created":"2020-04-20T15:47:10.494186+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2431","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PCDH19 as ready","entity_name":"PCDH19","entity_type":"gene"},{"created":"2020-04-20T15:47:10.484950+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2431","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcdh19 has been classified as Green List (High Evidence).","entity_name":"PCDH19","entity_type":"gene"},{"created":"2020-04-20T15:46:57.485609+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2431","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PCDH19 were changed from  to Epileptic encephalopathy, early infantile, 9\t300088; PCDH19-related epilepsy (early seizure onset, generalised or focused seizures); cognitive impairment","entity_name":"PCDH19","entity_type":"gene"},{"created":"2020-04-20T15:46:31.405536+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2430","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PCDH19 were set to ","entity_name":"PCDH19","entity_type":"gene"},{"created":"2020-04-20T15:46:09.412965+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2429","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PCDH19 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PCDH19","entity_type":"gene"},{"created":"2020-04-20T15:45:29.479092+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2428","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GFAP as ready","entity_name":"GFAP","entity_type":"gene"},{"created":"2020-04-20T15:45:29.467016+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2428","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gfap has been classified as Green List (High Evidence).","entity_name":"GFAP","entity_type":"gene"},{"created":"2020-04-20T15:45:20.563583+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2428","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GFAP were changed from  to Alexander disease, MIM#\t203450","entity_name":"GFAP","entity_type":"gene"},{"created":"2020-04-20T15:44:35.417915+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2427","user_name":"Dean Phelan","item_type":"entity","text":"reviewed gene: SLC9A7: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30335141; Phenotypes: Intellectual disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes","entity_name":"SLC9A7","entity_type":"gene"},{"created":"2020-04-20T15:43:18.835363+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2427","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GFAP were set to ","entity_name":"GFAP","entity_type":"gene"},{"created":"2020-04-20T15:43:02.133836+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2426","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GFAP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GFAP","entity_type":"gene"},{"created":"2020-04-20T15:42:18.345270+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COPA as ready","entity_name":"COPA","entity_type":"gene"},{"created":"2020-04-20T15:42:18.331058+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: copa has been classified as Green List (High Evidence).","entity_name":"COPA","entity_type":"gene"},{"created":"2020-04-20T15:42:10.081062+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COPA were changed from  to Autoimmune interstitial lung, joint, and kidney disease, MIM 616414","entity_name":"COPA","entity_type":"gene"},{"created":"2020-04-20T15:41:37.389150+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COPA were set to 31455335; 30804679","entity_name":"COPA","entity_type":"gene"},{"created":"2020-04-20T15:41:12.820134+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COPA were set to ","entity_name":"COPA","entity_type":"gene"},{"created":"2020-04-20T15:40:24.572369+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COPA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"COPA","entity_type":"gene"},{"created":"2020-04-20T15:39:42.059795+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31455335, 30804679; Phenotypes: Autoimmune interstitial lung, joint, and kidney disease, MIM 616414; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"COPA","entity_type":"gene"},{"created":"2020-04-20T15:38:16.448562+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2425","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COPA as ready","entity_name":"COPA","entity_type":"gene"},{"created":"2020-04-20T15:38:16.438861+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2425","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: copa has been classified as Green List (High Evidence).","entity_name":"COPA","entity_type":"gene"},{"created":"2020-04-20T15:38:07.058964+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2425","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COPA were changed from  to Autoimmune interstitial lung, joint, and kidney disease, MIM 616414","entity_name":"COPA","entity_type":"gene"},{"created":"2020-04-20T15:37:50.867961+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2424","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COPA were set to ","entity_name":"COPA","entity_type":"gene"},{"created":"2020-04-20T15:37:34.695466+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2423","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COPA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"COPA","entity_type":"gene"},{"created":"2020-04-20T15:37:22.490173+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.659","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SAMD12 as ready","entity_name":"SAMD12","entity_type":"gene"},{"created":"2020-04-20T15:37:22.477930+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.659","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: samd12 has been classified as Green List (High Evidence).","entity_name":"SAMD12","entity_type":"gene"},{"created":"2020-04-20T15:37:18.412280+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.659","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deep intronic tag was added to gene: SAMD12.","entity_name":"SAMD12","entity_type":"gene"},{"created":"2020-04-20T15:37:07.674338+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2422","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25707398, 31263215; Phenotypes: Mental retardation, autosomal dominant 7 (MIM#614104); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"DYRK1A","entity_type":"gene"},{"created":"2020-04-20T15:37:04.176192+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2422","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COPA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"COPA","entity_type":"gene"},{"created":"2020-04-20T15:36:33.695670+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.15","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: LRP6: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31332306; Phenotypes: {Coronary artery disease, autosomal dominant, 2} 610947, Tooth agenesis, selective, 7 616724, Split-hand/foot malformation; Mode of inheritance: None","entity_name":"LRP6","entity_type":"gene"},{"created":"2020-04-20T15:36:09.079223+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2421","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: PLOD3 as ready","entity_name":"PLOD3","entity_type":"gene"},{"created":"2020-04-20T15:36:09.072646+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2421","user_name":"Alison Yeung","item_type":"entity","text":"Added comment: Comment when marking as ready: >3 unrelated families reported","entity_name":"PLOD3","entity_type":"gene"},{"created":"2020-04-20T15:36:09.023140+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2421","user_name":"Alison Yeung","item_type":"entity","text":"Gene: plod3 has been classified as Green List (High Evidence).","entity_name":"PLOD3","entity_type":"gene"},{"created":"2020-04-20T15:36:04.134563+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2421","user_name":"Teresa Zhao","item_type":"entity","text":"reviewed gene: TLK2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:29861108, 29942082, 27479843, 23911319, 30559488, 29942082, 31558842; Phenotypes: Intellectual disability, MIM 618050, Neurodevelopmental disease; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"TLK2","entity_type":"gene"},{"created":"2020-04-20T15:36:03.436382+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.659","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SAMD12 as Green List (high evidence)","entity_name":"SAMD12","entity_type":"gene"},{"created":"2020-04-20T15:36:03.423614+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.659","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: samd12 has been classified as Green List (High Evidence).","entity_name":"SAMD12","entity_type":"gene"},{"created":"2020-04-20T15:35:56.754930+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2421","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOXG1 as ready","entity_name":"FOXG1","entity_type":"gene"},{"created":"2020-04-20T15:35:56.718647+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2421","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxg1 has been classified as Green List (High Evidence).","entity_name":"FOXG1","entity_type":"gene"},{"created":"2020-04-20T15:35:37.674519+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2421","user_name":"Alison Yeung","item_type":"entity","text":"Mode of inheritance for gene: PLOD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLOD3","entity_type":"gene"},{"created":"2020-04-20T15:35:27.918223+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2421","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FOXG1 were changed from  to Rett syndrome, congenital variant, MIM#\t613454","entity_name":"FOXG1","entity_type":"gene"},{"created":"2020-04-20T15:35:04.594872+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2420","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FOXG1 were set to ","entity_name":"FOXG1","entity_type":"gene"},{"created":"2020-04-20T15:34:42.969562+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2419","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FOXG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FOXG1","entity_type":"gene"},{"created":"2020-04-20T15:34:21.345597+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.658","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SAMD12 was added\ngene: SAMD12 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: SAMD12 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: SAMD12 were set to 30194086; 29507423\nPhenotypes for gene: SAMD12 were set to Epilepsy, familial adult myoclonic, 1, MIM# 601068\nMode of pathogenicity for gene: SAMD12 was set to Other\nReview for gene: SAMD12 was set to GREEN\nAdded comment: Repeat expansions of intronic TTTCA and TTTTA motifs within SAMD12 have been identified in over 50 Japanese and Chinese families. Most families with affected individuals were heterozygous however 4 patients from 3 families had homozygous repeat expansions, which was associated with a more severe phenotype. Western blot analysis showed decreased levels of the protein in patient brains. Note these were identified on long-read sequencing and may not be detectable by all assays. \nSources: Literature","entity_name":"SAMD12","entity_type":"gene"},{"created":"2020-04-20T15:31:55.133287+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2542","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IGF1R as ready","entity_name":"IGF1R","entity_type":"gene"},{"created":"2020-04-20T15:31:55.123098+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2542","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: igf1r has been classified as Green List (High Evidence).","entity_name":"IGF1R","entity_type":"gene"},{"created":"2020-04-20T15:31:46.085432+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2418","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: TBX6 as ready","entity_name":"TBX6","entity_type":"gene"},{"created":"2020-04-20T15:31:46.079959+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2418","user_name":"Alison Yeung","item_type":"entity","text":"Added comment: Comment when marking as ready: Biallelic variants associated with spondylocostal dysostosis in >3 unrelated individuals\r\nMouse model recapitulates phenotype","entity_name":"TBX6","entity_type":"gene"},{"created":"2020-04-20T15:31:46.038416+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2418","user_name":"Alison Yeung","item_type":"entity","text":"Gene: tbx6 has been classified as Green List (High Evidence).","entity_name":"TBX6","entity_type":"gene"},{"created":"2020-04-20T15:31:42.441374+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2418","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SAMD12 as ready","entity_name":"SAMD12","entity_type":"gene"},{"created":"2020-04-20T15:31:42.432608+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2418","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: samd12 has been classified as Green List (High Evidence).","entity_name":"SAMD12","entity_type":"gene"},{"created":"2020-04-20T15:31:06.478982+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2418","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deep intronic tag was added to gene: SAMD12.","entity_name":"SAMD12","entity_type":"gene"},{"created":"2020-04-20T15:31:00.932927+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2418","user_name":"Alison Yeung","item_type":"entity","text":"Mode of inheritance for gene: TBX6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TBX6","entity_type":"gene"},{"created":"2020-04-20T15:30:48.886383+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2418","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SAMD12 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"SAMD12","entity_type":"gene"},{"created":"2020-04-20T15:30:21.512105+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2417","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SAMD12 as Green List (high evidence)","entity_name":"SAMD12","entity_type":"gene"},{"created":"2020-04-20T15:30:21.499877+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2417","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: samd12 has been classified as Green List (High Evidence).","entity_name":"SAMD12","entity_type":"gene"},{"created":"2020-04-20T15:29:15.988148+10:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.21","user_name":"Ain Roesley","item_type":"entity","text":"gene: MYRF was added\ngene: MYRF was added to Disorders of Sex Differentiation. Sources: Literature\nMode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MYRF were set to PMID: 30985895\nPhenotypes for gene: MYRF were set to disorders of sex development\nReview for gene: MYRF was set to GREEN\nAdded comment: PMID: 30985895; 4 unrelated families with de novo variants. 1 family includes monozygotic twins \nSources: Literature","entity_name":"MYRF","entity_type":"gene"},{"created":"2020-04-20T15:29:12.353682+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2416","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: FUS","entity_name":"FUS","entity_type":"gene"},{"created":"2020-04-20T15:29:06.038372+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2416","user_name":"Kristin Rigbye","item_type":"entity","text":"reviewed gene: ABCA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 9054934, 30480703, 29847635, 29971439, 16103129, 30643219; Phenotypes: Cone-rod dystrophy 3, 604116, Fundus flavimaculatus, 248200, Retinal dystrophy, early-onset severe, 248200, Retinitis pigmentosa 19, 601718, Stargardt disease 1, 248200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABCA4","entity_type":"gene"},{"created":"2020-04-20T15:28:44.750726+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2416","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: CFAP69: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29606301, 30415212; Phenotypes: Asthenoteratospermia (Impaired sperm motility, severe flagellar abnormalities (short, coiled, absent or irregular calibre)); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"CFAP69","entity_type":"gene"}]}