{"count":220437,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1516","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1514","results":[{"created":"2020-11-02T15:58:31.315008+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.50","user_name":"Seb Lunke","item_type":"entity","text":"Gene: rhob has been classified as Amber List (Moderate Evidence).","entity_name":"RHOB","entity_type":"gene"},{"created":"2020-11-02T15:57:44.054050+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.49","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: FBXO31 as ready","entity_name":"FBXO31","entity_type":"gene"},{"created":"2020-11-02T15:57:44.043024+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.49","user_name":"Seb Lunke","item_type":"entity","text":"Gene: fbxo31 has been classified as Amber List (Moderate Evidence).","entity_name":"FBXO31","entity_type":"gene"},{"created":"2020-11-02T15:57:33.589996+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.49","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: FBXO31 as Amber List (moderate evidence)","entity_name":"FBXO31","entity_type":"gene"},{"created":"2020-11-02T15:57:33.581790+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.49","user_name":"Seb Lunke","item_type":"entity","text":"Gene: fbxo31 has been classified as Amber List (Moderate Evidence).","entity_name":"FBXO31","entity_type":"gene"},{"created":"2020-11-02T15:56:32.032776+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALK as ready","entity_name":"ALK","entity_type":"gene"},{"created":"2020-11-02T15:56:32.025289+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alk has been classified as Amber List (Moderate Evidence).","entity_name":"ALK","entity_type":"gene"},{"created":"2020-11-02T15:56:27.695277+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALK as Amber List (moderate evidence)","entity_name":"ALK","entity_type":"gene"},{"created":"2020-11-02T15:56:27.685125+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alk has been classified as Amber List (Moderate Evidence).","entity_name":"ALK","entity_type":"gene"},{"created":"2020-11-02T15:54:21.958685+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5251","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CTLA4 as ready","entity_name":"CTLA4","entity_type":"gene"},{"created":"2020-11-02T15:54:21.945346+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5251","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctla4 has been classified as Green List (High Evidence).","entity_name":"CTLA4","entity_type":"gene"},{"created":"2020-11-02T15:54:13.297505+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5251","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CTLA4 were changed from  to Autoimmune lymphoproliferative syndrome, type V (MIM#616100), AD","entity_name":"CTLA4","entity_type":"gene"},{"created":"2020-11-02T15:54:12.355884+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.47","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: TUBA1A as ready","entity_name":"TUBA1A","entity_type":"gene"},{"created":"2020-11-02T15:54:12.335779+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.47","user_name":"Seb Lunke","item_type":"entity","text":"Gene: tuba1a has been classified as Green List (High Evidence).","entity_name":"TUBA1A","entity_type":"gene"},{"created":"2020-11-02T15:54:09.350303+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.47","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: TUBA1A were changed from  to Cerebral Palsy (PMID:32989326)","entity_name":"TUBA1A","entity_type":"gene"},{"created":"2020-11-02T15:53:48.952650+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5250","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CTLA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CTLA4","entity_type":"gene"},{"created":"2020-11-02T15:53:24.753628+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.46","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: TUBA1A were set to 32989326; 25666757","entity_name":"TUBA1A","entity_type":"gene"},{"created":"2020-11-02T15:52:55.833028+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5249","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VIM as ready","entity_name":"VIM","entity_type":"gene"},{"created":"2020-11-02T15:52:55.821366+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5249","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vim has been classified as Green List (High Evidence).","entity_name":"VIM","entity_type":"gene"},{"created":"2020-11-02T15:52:55.760474+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.45","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: TUBA1A were set to ","entity_name":"TUBA1A","entity_type":"gene"},{"created":"2020-11-02T15:52:40.016962+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5249","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: VIM were changed from  to Cataract 30, pulverulent 116300; frontonasal dysostosis and premature aging","entity_name":"VIM","entity_type":"gene"},{"created":"2020-11-02T15:52:21.863892+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5248","user_name":"Paul De Fazio","item_type":"entity","text":"changed review comment from: 3 families with compound het variants in total, all share one missense variant (p.Asp148Ty)\r\n\r\nPMID 29423877: 3 patients from 2 Finnish families compound het for the same missense variant (122 hets 0 homs) and the same frameshift variant (12 hets 0 homs), main clinical features included progressive cerebropulmonary symptoms, malabsorption, progressive growth failure, recurrent infections, chronic haemolytic anaemia and transient liver dysfunction. Expression studies in patient-derived fibroblasts supported the frameshift variant leading to NMD. Zebrafish knockdown affected the integrity of cells in the midbrain region.\r\n\r\nPMID 32435055: patient with the same phenotype from a Ukrainian family chet for two missense variants, one shared with the Finnish families and one novel.; to: 3 families with compound het variants in total, all share one missense variant (p.Asp148Ty)\r\n\r\nPMID 29423877: 3 patients from 2 Finnish families compound het for the same missense variant (122 hets 0 homs) and the same frameshift variant (12 hets 0 homs), main clinical features included progressive cerebropulmonary symptoms, malabsorption, progressive growth failure, recurrent infections, chronic haemolytic anaemia and transient liver dysfunction. Expression studies in patient-derived fibroblasts supported the frameshift variant leading to NMD. Zebrafish knockdown affected the integrity of cells in the midbrain region.\r\n\r\nPMID 32435055: patient with the same phenotype from a Ukrainian family chet for two missense variants, one shared with the Finnish families and one novel.","entity_name":"NHLRC2","entity_type":"gene"},{"created":"2020-11-02T15:52:16.657915+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5248","user_name":"Paul De Fazio","item_type":"entity","text":"changed review comment from: 3 families with compound het variants in total, all share one missense variant (p.Asp148Ty)\r\n\r\nPMID 29423877: 3 patients from 2 Finnish families compound het for the same missense variant (122 hets 0 homs) and the same frameshift variant (12 hets 0 homs), main clinical features included progressive cerebropulmonary symptoms, malabsorption, progressive growth failure, recurrent infections, chronic haemolytic anaemia and transient liver dysfunction. Zebrafish knockdown affected the integrity of cells in the midbrain region.\r\n\r\nPMID 32435055: patient with the same phenotype from a Ukrainian family chet for two missense variants, one shared with the Finnish families and one novel.; to: 3 families with compound het variants in total, all share one missense variant (p.Asp148Ty)\r\n\r\nPMID 29423877: 3 patients from 2 Finnish families compound het for the same missense variant (122 hets 0 homs) and the same frameshift variant (12 hets 0 homs), main clinical features included progressive cerebropulmonary symptoms, malabsorption, progressive growth failure, recurrent infections, chronic haemolytic anaemia and transient liver dysfunction. Expression studies in patient-derived fibroblasts supported the frameshift variant leading to NMD. Zebrafish knockdown affected the integrity of cells in the midbrain region.\r\n\r\nPMID 32435055: patient with the same phenotype from a Ukrainian family chet for two missense variants, one shared with the Finnish families and one novel.","entity_name":"NHLRC2","entity_type":"gene"},{"created":"2020-11-02T15:52:04.224852+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.44","user_name":"Kristin Rigbye","item_type":"entity","text":"gene: ATL1 was added\ngene: ATL1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATL1 were set to PMID: 32989326\nPhenotypes for gene: ATL1 were set to Cerebral palsy\nReview for gene: ATL1 was set to AMBER\nAdded comment: Two CP cohort patients with de novo ATL1 missense variants (p.Ala350Val and p.Lys406Gln) located in the GBP domain. Patients exhibited spasticity and dystonia with brain findings of T2 hyperintensities and bihemispheric periventricular leukomalacia. No functional studies. \nSources: Literature","entity_name":"ATL1","entity_type":"gene"},{"created":"2020-11-02T15:52:02.296957+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5248","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: VIM were set to ","entity_name":"VIM","entity_type":"gene"},{"created":"2020-11-02T15:51:59.146738+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.44","user_name":"Seb Lunke","item_type":"entity","text":"Mode of inheritance for gene: TUBA1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"TUBA1A","entity_type":"gene"},{"created":"2020-11-02T15:51:38.494776+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5247","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: VIM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"VIM","entity_type":"gene"},{"created":"2020-11-02T15:51:18.049510+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5246","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: VIM: Rating: GREEN; Mode of pathogenicity: None; Publications: 19126778, 26694549, 28450710; Phenotypes: Cataract 30, pulverulent 116300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"VIM","entity_type":"gene"},{"created":"2020-11-02T15:50:28.616491+11:00","panel_name":"Achromatopsia","panel_id":3149,"panel_version":"1.2","user_name":"Sue White","item_type":"entity","text":"Classified gene: STN1 as Green List (high evidence)","entity_name":"STN1","entity_type":"gene"},{"created":"2020-11-02T15:50:28.597382+11:00","panel_name":"Achromatopsia","panel_id":3149,"panel_version":"1.2","user_name":"Sue White","item_type":"entity","text":"Gene: stn1 has been classified as Green List (High Evidence).","entity_name":"STN1","entity_type":"gene"},{"created":"2020-11-02T15:50:14.929803+11:00","panel_name":"Achromatopsia","panel_id":3149,"panel_version":"1.1","user_name":"Sue White","item_type":"entity","text":"Marked gene: STN1 as ready","entity_name":"STN1","entity_type":"gene"},{"created":"2020-11-02T15:50:14.921885+11:00","panel_name":"Achromatopsia","panel_id":3149,"panel_version":"1.1","user_name":"Sue White","item_type":"entity","text":"Gene: stn1 has been classified as Red List (Low Evidence).","entity_name":"STN1","entity_type":"gene"},{"created":"2020-11-02T15:50:02.385379+11:00","panel_name":"Achromatopsia","panel_id":3149,"panel_version":"1.1","user_name":"Sue White","item_type":"entity","text":"gene: STN1 was added\ngene: STN1 was added to Achromatopsia. Sources: Literature\nMode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STN1 were set to 27432940; 32627942\nPhenotypes for gene: STN1 were set to bone marrow failure; dystonia; premature ageing; leukodystrophy; retinal telangiactasis\nPenetrance for gene: STN1 were set to Complete","entity_name":"STN1","entity_type":"gene"},{"created":"2020-11-02T15:49:11.645451+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.43","user_name":"Crystle Lee","item_type":"entity","text":"changed review comment from: >3 de novo CP families reported; to: 3 de novo CP families reported","entity_name":"TUBA1A","entity_type":"gene"},{"created":"2020-11-02T15:48:07.504084+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3132","user_name":"Sue White","item_type":"entity","text":"Classified gene: STN1 as Amber List (moderate evidence)","entity_name":"STN1","entity_type":"gene"},{"created":"2020-11-02T15:48:07.496266+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3132","user_name":"Sue White","item_type":"entity","text":"Gene: stn1 has been classified as Amber List (Moderate Evidence).","entity_name":"STN1","entity_type":"gene"},{"created":"2020-11-02T15:48:01.423839+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5246","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: NHLRC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29423877, 32435055; Phenotypes: Fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA) syndrome MIM#618278; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"NHLRC2","entity_type":"gene"},{"created":"2020-11-02T15:47:32.331842+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3131","user_name":"Sue White","item_type":"entity","text":"gene: STN1 was added\ngene: STN1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STN1 were set to 32627942; 27432940\nPhenotypes for gene: STN1 were set to cerebral calcification; premature ageing; bone marrow failure; retinal telangiactasia; hepatic fibrosis\nPenetrance for gene: STN1 were set to Complete\nAdded comment: 3 unrelated patients reported with Coats-plus syndrome. Developmental delay noted in two. \nSources: Literature","entity_name":"STN1","entity_type":"gene"},{"created":"2020-11-02T15:46:37.993549+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.153","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STN1 as ready","entity_name":"STN1","entity_type":"gene"},{"created":"2020-11-02T15:46:37.980703+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.153","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stn1 has been classified as Green List (High Evidence).","entity_name":"STN1","entity_type":"gene"},{"created":"2020-11-02T15:46:34.981965+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.153","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: STN1 as Green List (high evidence)","entity_name":"STN1","entity_type":"gene"},{"created":"2020-11-02T15:46:34.970844+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.153","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stn1 has been classified as Green List (High Evidence).","entity_name":"STN1","entity_type":"gene"},{"created":"2020-11-02T15:46:25.606777+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.152","user_name":"Zornitza Stark","item_type":"entity","text":"gene: STN1 was added\ngene: STN1 was added to Syndromic Retinopathy. Sources: Literature\nMode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STN1 were set to 27432940; 32627942\nPhenotypes for gene: STN1 were set to Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341\nReview for gene: STN1 was set to GREEN\nAdded comment: Three unrelated families described with a multisystem disorder characterized by premature aging, pancytopaenia, hypocellular bone marrow, osteopenia, liver fibrosis, and vascular telangiectasia resulting in gastrointestinal bleeding, as well as intracranial calcifications and leukodystrophy, resulting in spasticity, ataxia, or dystonia.\r\n\r\nRetinal telangiectasia. \nSources: Literature","entity_name":"STN1","entity_type":"gene"},{"created":"2020-11-02T15:45:20.028025+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5246","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STN1 were set to 27432940","entity_name":"STN1","entity_type":"gene"},{"created":"2020-11-02T15:44:58.289176+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5245","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: STN1 as Green List (high evidence)","entity_name":"STN1","entity_type":"gene"},{"created":"2020-11-02T15:44:58.279139+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5245","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stn1 has been classified as Green List (High Evidence).","entity_name":"STN1","entity_type":"gene"},{"created":"2020-11-02T15:44:43.766065+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.43","user_name":"Kristin Rigbye","item_type":"entity","text":"gene: FBXO31 was added\ngene: FBXO31 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: FBXO31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FBXO31 were set to PMID: 32989326\nPhenotypes for gene: FBXO31 were set to Cerebral palsy\nPenetrance for gene: FBXO31 were set to unknown\nMode of pathogenicity for gene: FBXO31 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: FBXO31 was set to AMBER\nAdded comment: 2 unrelated probands with CP harbouring the same de novo missense variant (p.Asp334Asn).  The variant affects the cyclin D interaction site, leading to an apparent gain of function of cyclin D degradation, supported by Western blots from patient fibroblasts which showed decreased cyclin D expression. \nSources: Literature","entity_name":"FBXO31","entity_type":"gene"},{"created":"2020-11-02T15:44:39.503305+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5244","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: STN1: Added comment: Third unrelated family reported, promote to Green.; Changed rating: GREEN; Changed publications: 27432940, 32627942","entity_name":"STN1","entity_type":"gene"},{"created":"2020-11-02T15:44:12.077734+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STN1 as ready","entity_name":"STN1","entity_type":"gene"},{"created":"2020-11-02T15:44:12.063196+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stn1 has been classified as Green List (High Evidence).","entity_name":"STN1","entity_type":"gene"},{"created":"2020-11-02T15:44:07.609320+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: STN1 as Green List (high evidence)","entity_name":"STN1","entity_type":"gene"},{"created":"2020-11-02T15:44:07.600580+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stn1 has been classified as Green List (High Evidence).","entity_name":"STN1","entity_type":"gene"},{"created":"2020-11-02T15:44:00.244556+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"gene: STN1 was added\ngene: STN1 was added to Liver Failure_Paediatric. Sources: Literature\nMode of inheritance for gene: STN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STN1 were set to 27432940; 32627942\nPhenotypes for gene: STN1 were set to Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341\nReview for gene: STN1 was set to GREEN\nAdded comment: Three unrelated families described with a multisystem disorder characterized by premature aging, pancytopaenia, hypocellular bone marrow, osteopenia, liver fibrosis, and vascular telangiectasia resulting in gastrointestinal bleeding, as well as intracranial calcifications and leukodystrophy, resulting in spasticity, ataxia, or dystonia. \nSources: Literature","entity_name":"STN1","entity_type":"gene"},{"created":"2020-11-02T15:43:48.505592+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.43","user_name":"Dean Phelan","item_type":"entity","text":"gene: ALK was added\ngene: ALK was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ALK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ALK were set to PMID: 32989326\nPhenotypes for gene: ALK were set to Spastic-dystonic diplegia\nReview for gene: ALK was set to AMBER\nAdded comment: PMID: 32989326 - Large cohort study of cerebral palsy cases identified two de novo variants in two patients with spastic diplegia with mild tremor, scattered subcortical hyperintensities and an atrial septal defect; and spastic-dystonic diplegia, white matter abnormalities and epilepsy, respectively, with no evidence of neuroblastoma in either patient. \nSources: Literature","entity_name":"ALK","entity_type":"gene"},{"created":"2020-11-02T15:43:18.549344+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STN1 were set to 27432940","entity_name":"STN1","entity_type":"gene"},{"created":"2020-11-02T15:43:00.434505+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STN1 were set to 27432940","entity_name":"STN1","entity_type":"gene"},{"created":"2020-11-02T15:41:52.110503+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: STN1 as Green List (high evidence)","entity_name":"STN1","entity_type":"gene"},{"created":"2020-11-02T15:41:52.101954+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stn1 has been classified as Green List (High Evidence).","entity_name":"STN1","entity_type":"gene"},{"created":"2020-11-02T15:41:27.759713+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.43","user_name":"Crystle Lee","item_type":"entity","text":"gene: RHOB was added\ngene: RHOB was added to Cerebral Palsy. Sources: Expert Review\nMode of inheritance for gene: RHOB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RHOB were set to 32989326\nPhenotypes for gene: RHOB were set to Cerebral Palsy (PMID:32989326)\nMode of pathogenicity for gene: RHOB was set to Other\nReview for gene: RHOB was set to AMBER\nAdded comment: Candidate disease-causing gene for CP. Recurrent de novo missense variant reported in 2 unrelated families with supporting functional studies. \nSources: Expert Review","entity_name":"RHOB","entity_type":"gene"},{"created":"2020-11-02T15:41:13.416902+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: STN1: Added comment: Third unrelated family reported, promoted to Green.; Changed rating: GREEN; Changed publications: 27432940, 32627942; Changed phenotypes: Cerebroretinal microangiopathy with calcifications and cysts 2, MIM# 617341","entity_name":"STN1","entity_type":"gene"},{"created":"2020-11-02T15:39:53.490421+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5244","user_name":"Teresa Zhao","item_type":"entity","text":"reviewed gene: CTLA4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune lymphoproliferative syndrome, type V (MIM#616100), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"CTLA4","entity_type":"gene"},{"created":"2020-11-02T15:39:21.414829+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STN1 as ready","entity_name":"STN1","entity_type":"gene"},{"created":"2020-11-02T15:39:21.409759+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Promoted to Green, highly specific constellation of features.","entity_name":"STN1","entity_type":"gene"},{"created":"2020-11-02T15:39:21.385526+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stn1 has been classified as Green List (High Evidence).","entity_name":"STN1","entity_type":"gene"},{"created":"2020-11-02T15:38:49.202289+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: STN1 as Green List (high evidence)","entity_name":"STN1","entity_type":"gene"},{"created":"2020-11-02T15:38:49.194269+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stn1 has been classified as Green List (High Evidence).","entity_name":"STN1","entity_type":"gene"},{"created":"2020-11-02T15:33:09.746897+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.43","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: TUBA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32989326, 25666757; Phenotypes: Cerebral Palsy (PMID:32989326); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"TUBA1A","entity_type":"gene"},{"created":"2020-11-02T15:32:08.944371+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5244","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ITPR3 as ready","entity_name":"ITPR3","entity_type":"gene"},{"created":"2020-11-02T15:32:08.936347+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5244","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itpr3 has been classified as Amber List (Moderate Evidence).","entity_name":"ITPR3","entity_type":"gene"},{"created":"2020-11-02T15:32:05.397466+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5244","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: VIM: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 32066935; Phenotypes: frontonasal dysostosis, premature aging; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"VIM","entity_type":"gene"},{"created":"2020-11-02T15:31:59.787698+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.167","user_name":"Sue White","item_type":"entity","text":"reviewed gene: STN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32627942; Phenotypes: Coats-plus syndrome, intracranial calcification, retinal telangiactasia, bone marrow failure; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"STN1","entity_type":"gene"},{"created":"2020-11-02T15:31:58.444225+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5244","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ITPR3 as Amber List (moderate evidence)","entity_name":"ITPR3","entity_type":"gene"},{"created":"2020-11-02T15:31:58.435741+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5244","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itpr3 has been classified as Amber List (Moderate Evidence).","entity_name":"ITPR3","entity_type":"gene"},{"created":"2020-11-02T15:31:41.308629+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5243","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ITPR3 was added\ngene: ITPR3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ITPR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ITPR3 were set to 32949214\nPhenotypes for gene: ITPR3 were set to Charcot-Marie-Tooth disease\nReview for gene: ITPR3 was set to AMBER\nAdded comment: Two unrelated families reported: variant segregated in four affected individuals in one family and was de novo in the second family where there was a single affected person. Some evidence for dominant-negative effect. \nSources: Literature","entity_name":"ITPR3","entity_type":"gene"},{"created":"2020-11-02T15:19:30.870691+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5242","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SOCS1 were changed from Common variable immunodeficiency to Common variable immunodeficiency; Early-onset autoimmunity","entity_name":"SOCS1","entity_type":"gene"},{"created":"2020-11-02T15:19:08.148427+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5241","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SOCS1 were set to 32499645; 10490099; 10490100","entity_name":"SOCS1","entity_type":"gene"},{"created":"2020-11-02T15:18:47.602088+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5240","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SOCS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33087723; Phenotypes: Early-onset autoimmunity; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SOCS1","entity_type":"gene"},{"created":"2020-11-02T15:17:33.250414+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SOCS1 as ready","entity_name":"SOCS1","entity_type":"gene"},{"created":"2020-11-02T15:17:33.239790+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: socs1 has been classified as Green List (High Evidence).","entity_name":"SOCS1","entity_type":"gene"},{"created":"2020-11-02T15:17:28.875280+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SOCS1 as Green List (high evidence)","entity_name":"SOCS1","entity_type":"gene"},{"created":"2020-11-02T15:17:28.860375+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: socs1 has been classified as Green List (High Evidence).","entity_name":"SOCS1","entity_type":"gene"},{"created":"2020-11-02T15:16:55.936298+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SOCS1 was added\ngene: SOCS1 was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: SOCS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SOCS1 were set to 33087723\nPhenotypes for gene: SOCS1 were set to Early-onset autoimmunity\nReview for gene: SOCS1 was set to GREEN\nAdded comment: Ten individuals from 5 unrelated families with LOF variants in this gene and early-onset autoimmunity. Functional data indicates cytokine hypersensitivity of immune cells. \nSources: Literature","entity_name":"SOCS1","entity_type":"gene"},{"created":"2020-11-02T14:04:21.861585+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5240","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AMOTL1 as ready","entity_name":"AMOTL1","entity_type":"gene"},{"created":"2020-11-02T14:04:21.847425+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5240","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: amotl1 has been classified as Red List (Low Evidence).","entity_name":"AMOTL1","entity_type":"gene"},{"created":"2020-11-02T14:04:12.813458+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5240","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AMOTL1 was added\ngene: AMOTL1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: AMOTL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AMOTL1 were set to 33026150\nPhenotypes for gene: AMOTL1 were set to Cleft lip and palate; imperforate anus; dysmorphism\nReview for gene: AMOTL1 was set to RED\nAdded comment: Two unrelated families reported. In one, the variant was identified in parent and child who had orofacial cleft and cardiac abnormalities. Second report in PMID 33026150, de novo missense variant and cleft lip/palate, imperforate anus and dysmorphism. Mouse model does not recapitulate phenotype. \nSources: Literature","entity_name":"AMOTL1","entity_type":"gene"},{"created":"2020-11-02T13:52:13.997884+11:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAX5 as ready","entity_name":"PAX5","entity_type":"gene"},{"created":"2020-11-02T13:52:13.988617+11:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pax5 has been classified as Green List (High Evidence).","entity_name":"PAX5","entity_type":"gene"},{"created":"2020-11-02T13:52:11.169694+11:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PAX5 were changed from  to {Leukemia, acute lymphoblastic, susceptibility to, 3}, MIM# 615545","entity_name":"PAX5","entity_type":"gene"},{"created":"2020-11-02T13:51:42.704076+11:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PAX5 were set to ","entity_name":"PAX5","entity_type":"gene"},{"created":"2020-11-02T13:51:14.840610+11:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PAX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PAX5","entity_type":"gene"},{"created":"2020-11-02T13:50:45.802798+11:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PAX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 24013638, 30643249, 33036026; Phenotypes: {Leukemia, acute lymphoblastic, susceptibility to, 3}, MIM# 615545; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PAX5","entity_type":"gene"},{"created":"2020-11-02T13:39:53.450696+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5239","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIRREL1 as ready","entity_name":"KIRREL1","entity_type":"gene"},{"created":"2020-11-02T13:39:53.442810+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5239","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kirrel1 has been classified as Amber List (Moderate Evidence).","entity_name":"KIRREL1","entity_type":"gene"},{"created":"2020-11-02T13:39:44.523680+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5239","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIRREL1 as Amber List (moderate evidence)","entity_name":"KIRREL1","entity_type":"gene"},{"created":"2020-11-02T13:39:44.511950+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5239","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kirrel1 has been classified as Amber List (Moderate Evidence).","entity_name":"KIRREL1","entity_type":"gene"},{"created":"2020-11-02T13:39:25.927036+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5238","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KIRREL1 was added\ngene: KIRREL1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KIRREL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIRREL1 were set to 31472902\nPhenotypes for gene: KIRREL1 were set to Steroid-resistant nephrotic syndrome\nReview for gene: KIRREL1 was set to AMBER\nAdded comment: Two unrelated families reported with bi-allelic variants and limited functional data. \nSources: Literature","entity_name":"KIRREL1","entity_type":"gene"},{"created":"2020-11-02T13:37:41.936624+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIRREL1 as ready","entity_name":"KIRREL1","entity_type":"gene"},{"created":"2020-11-02T13:37:41.927810+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kirrel1 has been classified as Amber List (Moderate Evidence).","entity_name":"KIRREL1","entity_type":"gene"},{"created":"2020-11-02T13:37:29.744114+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIRREL1 as Amber List (moderate evidence)","entity_name":"KIRREL1","entity_type":"gene"},{"created":"2020-11-02T13:37:29.733418+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kirrel1 has been classified as Amber List (Moderate Evidence).","entity_name":"KIRREL1","entity_type":"gene"}]}