{"count":220314,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=843","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=841","results":[{"created":"2022-05-13T10:38:32.106836+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4766","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RHEB were changed from Intellectual disability; Macrocephaly; Focal cortical dysplasia to Neurodevelopmental disorder MONDO:0700092, RHEB-related; Intellectual disability; Macrocephaly; Focal cortical dysplasia","entity_name":"RHEB","entity_type":"gene"},{"created":"2022-05-13T10:37:53.096265+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4765","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RHEB: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, RHEB-related, Intellectual disability, Macrocephaly, Focal cortical dysplasia","entity_name":"RHEB","entity_type":"gene"},{"created":"2022-05-13T10:37:31.880589+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14209","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RHEB as ready","entity_name":"RHEB","entity_type":"gene"},{"created":"2022-05-13T10:37:31.865781+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14209","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rheb has been classified as Green List (High Evidence).","entity_name":"RHEB","entity_type":"gene"},{"created":"2022-05-13T10:37:30.531592+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14209","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: FSHR were changed from  to Ovarian dysgenesis 1 MONDO:0024463; Ovarian hyperstimulation syndrome MONDO:0011972","entity_name":"FSHR","entity_type":"gene"},{"created":"2022-05-13T10:37:17.328471+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14208","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RHEB were changed from  to Neurodevelopmental disorder MONDO:0700092, RHEB-related; Intellectual disability; Macrocephaly; Focal cortical dysplasia","entity_name":"RHEB","entity_type":"gene"},{"created":"2022-05-13T10:36:54.183224+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14207","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RHEB were set to ","entity_name":"RHEB","entity_type":"gene"},{"created":"2022-05-13T10:36:31.470796+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14206","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RHEB was changed from Unknown to Other","entity_name":"RHEB","entity_type":"gene"},{"created":"2022-05-13T10:36:10.969638+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14205","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RHEB: Rating: GREEN; Mode of pathogenicity: None; Publications: 31337748, 29051493; Phenotypes: Neurodevelopmental disorder MONDO:0700092, RHEB-related, Intellectual disability, Macrocephaly, Focal cortical dysplasia; Mode of inheritance: Other","entity_name":"RHEB","entity_type":"gene"},{"created":"2022-05-13T10:28:36.175103+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14205","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: FSHR were set to ","entity_name":"FSHR","entity_type":"gene"},{"created":"2022-05-13T10:23:22.845515+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MCCC2 as ready","entity_name":"MCCC2","entity_type":"gene"},{"created":"2022-05-13T10:23:22.830247+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mccc2 has been classified as Red List (Low Evidence).","entity_name":"MCCC2","entity_type":"gene"},{"created":"2022-05-13T10:23:19.585693+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14204","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: FSHR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"FSHR","entity_type":"gene"},{"created":"2022-05-13T10:23:16.385223+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MCCC2 as Red List (low evidence)","entity_name":"MCCC2","entity_type":"gene"},{"created":"2022-05-13T10:23:16.367334+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mccc2 has been classified as Red List (Low Evidence).","entity_name":"MCCC2","entity_type":"gene"},{"created":"2022-05-13T10:23:00.757591+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.269","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MCCC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"MCCC2","entity_type":"gene"},{"created":"2022-05-13T10:18:19.025883+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14203","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: FSHR: Rating: GREEN; Mode of pathogenicity: None; Publications: 16630814, 7553856, 9020851, 9769327, 20087398, 9854118, 12930928, 12930927, 17721928, 26911863; Phenotypes: Ovarian dysgenesis 1 MONDO:0024463, Ovarian hyperstimulation syndrome MONDO:0011972; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"FSHR","entity_type":"gene"},{"created":"2022-05-13T09:59:39.418500+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14203","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RHCE as ready","entity_name":"RHCE","entity_type":"gene"},{"created":"2022-05-13T09:59:39.372394+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14203","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rhce has been classified as Green List (High Evidence).","entity_name":"RHCE","entity_type":"gene"},{"created":"2022-05-13T09:29:14.758362+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RHCE as ready","entity_name":"RHCE","entity_type":"gene"},{"created":"2022-05-13T09:29:14.748358+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rhce has been classified as Green List (High Evidence).","entity_name":"RHCE","entity_type":"gene"},{"created":"2022-05-13T09:29:10.185070+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RHCE as Green List (high evidence)","entity_name":"RHCE","entity_type":"gene"},{"created":"2022-05-13T09:29:10.175477+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rhce has been classified as Green List (High Evidence).","entity_name":"RHCE","entity_type":"gene"},{"created":"2022-05-13T09:28:58.173460+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RHCE was added\ngene: RHCE was added to Red cell disorders. Sources: Expert list\nMode of inheritance for gene: RHCE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RHCE were set to 9657766; 16271106; 25413218\nPhenotypes for gene: RHCE were set to Rh-null disease, amorph type, MIM# 617970\nReview for gene: RHCE was set to GREEN\nAdded comment: The RH-null phenotype designates rare individuals whose red blood cells lack all Rh antigens. Clinically, Rh-null patients present mild to moderate hemolytic anemia; cells exhibit characteristic morphologic and functional abnormalities including spherocytosis, stomatocytosis, and diminished lifespan. Multiple families reported. \nSources: Expert list","entity_name":"RHCE","entity_type":"gene"},{"created":"2022-05-13T09:28:50.716289+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14203","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RHCE were changed from  to Rh-null disease, amorph type, MIM# 617970","entity_name":"RHCE","entity_type":"gene"},{"created":"2022-05-13T09:28:32.591046+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14202","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RHCE were set to ","entity_name":"RHCE","entity_type":"gene"},{"created":"2022-05-13T09:28:13.148776+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14201","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RHCE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RHCE","entity_type":"gene"},{"created":"2022-05-13T09:27:23.370819+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14200","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RHCE: Rating: GREEN; Mode of pathogenicity: None; Publications: 9657766, 16271106, 25413218; Phenotypes: Rh-null disease, amorph type, MIM# 617970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RHCE","entity_type":"gene"},{"created":"2022-05-13T09:23:28.148724+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14200","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RGS9BP as ready","entity_name":"RGS9BP","entity_type":"gene"},{"created":"2022-05-13T09:23:28.125923+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14200","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rgs9bp has been classified as Green List (High Evidence).","entity_name":"RGS9BP","entity_type":"gene"},{"created":"2022-05-13T09:23:20.019288+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14200","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RGS9BP were changed from  to Bradyopsia, MIM# 608415","entity_name":"RGS9BP","entity_type":"gene"},{"created":"2022-05-13T09:22:56.233815+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14199","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RGS9BP were set to ","entity_name":"RGS9BP","entity_type":"gene"},{"created":"2022-05-13T09:22:32.938557+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14198","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RGS9BP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RGS9BP","entity_type":"gene"},{"created":"2022-05-13T09:22:07.027269+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14197","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RGS9BP: Rating: GREEN; Mode of pathogenicity: None; Publications: 14702087, 19818506; Phenotypes: Bradyopsia, MIM# 608415; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RGS9BP","entity_type":"gene"},{"created":"2022-05-13T09:17:44.342385+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14197","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RGS9 as ready","entity_name":"RGS9","entity_type":"gene"},{"created":"2022-05-13T09:17:44.333518+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14197","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rgs9 has been classified as Green List (High Evidence).","entity_name":"RGS9","entity_type":"gene"},{"created":"2022-05-13T09:17:21.732110+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14197","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RGS9 were changed from  to Bradyopsia, MIM# 608415","entity_name":"RGS9","entity_type":"gene"},{"created":"2022-05-13T09:16:54.072543+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14196","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RGS9 were set to ","entity_name":"RGS9","entity_type":"gene"},{"created":"2022-05-13T09:16:20.056119+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14195","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RGS9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RGS9","entity_type":"gene"},{"created":"2022-05-13T09:15:57.735625+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14194","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RGS9: Rating: GREEN; Mode of pathogenicity: None; Publications: 14702087, 10676965, 19818506; Phenotypes: Bradyopsia, MIM# 608415; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RGS9","entity_type":"gene"},{"created":"2022-05-13T09:12:15.613995+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14194","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RFX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitchell-Riley syndrome, MIM# 615710; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RFX6","entity_type":"gene"},{"created":"2022-05-13T09:11:44.702989+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14194","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RFX6 as ready","entity_name":"RFX6","entity_type":"gene"},{"created":"2022-05-13T09:11:44.693285+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14194","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rfx6 has been classified as Green List (High Evidence).","entity_name":"RFX6","entity_type":"gene"},{"created":"2022-05-13T09:11:08.509440+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14194","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RFX6 were changed from  to Mitchell-Riley syndrome, MIM#\t615710","entity_name":"RFX6","entity_type":"gene"},{"created":"2022-05-13T09:10:10.241065+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14193","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RFX6 were set to ","entity_name":"RFX6","entity_type":"gene"},{"created":"2022-05-13T09:07:42.892258+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.232","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SEMA7A as ready","entity_name":"SEMA7A","entity_type":"gene"},{"created":"2022-05-13T09:07:42.883619+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.232","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sema7a has been classified as Amber List (Moderate Evidence).","entity_name":"SEMA7A","entity_type":"gene"},{"created":"2022-05-13T09:07:37.274469+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.232","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SEMA7A as Amber List (moderate evidence)","entity_name":"SEMA7A","entity_type":"gene"},{"created":"2022-05-13T09:07:37.263955+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.232","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sema7a has been classified as Amber List (Moderate Evidence).","entity_name":"SEMA7A","entity_type":"gene"},{"created":"2022-05-13T09:07:00.483314+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.231","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SEMA7A was added\ngene: SEMA7A was added to Cholestasis. Sources: Expert list\nMode of inheritance for gene: SEMA7A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SEMA7A were set to 34585848\nPhenotypes for gene: SEMA7A were set to Cholestasis, progressive familial intrahepatic, 11 , MIM# 619874\nReview for gene: SEMA7A was set to AMBER\nAdded comment: Pan et al 2021 (PMID:34585848) identified a homozygous missense variant (gnomad: 107 hets 0 homs) in a child with progressive familial intrahepatic cholestasis. Homozygous mice recapitulated the patient phenotype. \nSources: Expert list","entity_name":"SEMA7A","entity_type":"gene"},{"created":"2022-05-13T09:04:53.985976+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14192","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SEMA7A were changed from Decreased bone mineral density; Kallmann syndrome; progressive familial intrahepatic cholestasis to Decreased bone mineral density; Kallmann syndrome; Cholestasis, progressive familial intrahepatic, 11 , MIM# 619874","entity_name":"SEMA7A","entity_type":"gene"},{"created":"2022-05-13T09:04:23.578870+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14191","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SEMA7A: Changed rating: AMBER; Changed phenotypes: Cholestasis, progressive familial intrahepatic, 11 , MIM# 619874; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SEMA7A","entity_type":"gene"},{"created":"2022-05-13T08:54:44.699632+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14191","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FXYD6 as ready","entity_name":"FXYD6","entity_type":"gene"},{"created":"2022-05-13T08:54:44.690855+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14191","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fxyd6 has been classified as Red List (Low Evidence).","entity_name":"FXYD6","entity_type":"gene"},{"created":"2022-05-13T08:52:47.783072+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14191","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: FXYD6 were changed from  to Schizophrenia MONDO:0005090","entity_name":"FXYD6","entity_type":"gene"},{"created":"2022-05-13T08:45:43.595423+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14190","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: FXYD6 were set to ","entity_name":"FXYD6","entity_type":"gene"},{"created":"2022-05-13T08:44:15.857735+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14189","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: FXYD6 as Red List (low evidence)","entity_name":"FXYD6","entity_type":"gene"},{"created":"2022-05-13T08:44:15.848525+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14189","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fxyd6 has been classified as Red List (Low Evidence).","entity_name":"FXYD6","entity_type":"gene"},{"created":"2022-05-13T08:43:53.567946+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14188","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: FXYD6: Rating: RED; Mode of pathogenicity: None; Publications: 17357072, 26193471, 29895895; Phenotypes: Schizophrenia MONDO:0005090; Mode of inheritance: None","entity_name":"FXYD6","entity_type":"gene"},{"created":"2022-05-13T08:43:09.720106+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14188","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FZD2 as ready","entity_name":"FZD2","entity_type":"gene"},{"created":"2022-05-13T08:43:09.709931+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14188","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fzd2 has been classified as Green List (High Evidence).","entity_name":"FZD2","entity_type":"gene"},{"created":"2022-05-13T08:39:56.407763+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14188","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: FZD2 were changed from  to Autosomal dominant omodysplasia MONDO:0008123","entity_name":"FZD2","entity_type":"gene"},{"created":"2022-05-13T08:04:18.379465+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14187","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: FZD2 were set to ","entity_name":"FZD2","entity_type":"gene"},{"created":"2022-05-13T06:55:31.910075+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.475","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FBP2 as ready","entity_name":"FBP2","entity_type":"gene"},{"created":"2022-05-13T06:55:31.898383+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.475","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbp2 has been classified as Amber List (Moderate Evidence).","entity_name":"FBP2","entity_type":"gene"},{"created":"2022-05-13T06:55:22.766910+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.475","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FBP2 as Amber List (moderate evidence)","entity_name":"FBP2","entity_type":"gene"},{"created":"2022-05-13T06:55:22.753816+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.475","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbp2 has been classified as Amber List (Moderate Evidence).","entity_name":"FBP2","entity_type":"gene"},{"created":"2022-05-13T06:54:45.412416+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.474","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FBP2 was added\ngene: FBP2 was added to Regression. Sources: Expert list\nMode of inheritance for gene: FBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FBP2 were set to 33977262\nPhenotypes for gene: FBP2 were set to Leukodystrophy, childhood-onset, remitting, MIM# 619864\nReview for gene: FBP2 was set to AMBER\nAdded comment: 8 individuals from 3 generations in a single family reported with a variant in this gene. The children presented with episode of regression and leukodystrophy in early childhood, from which they made a slow recovery. The adults had a broad range of neurobehavioural phenotypes but also had leukodystrophy on imaging. Some functional data presented (in vitro). \nSources: Expert list","entity_name":"FBP2","entity_type":"gene"},{"created":"2022-05-13T06:53:08.474430+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14186","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FBP2 as ready","entity_name":"FBP2","entity_type":"gene"},{"created":"2022-05-13T06:53:08.461007+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14186","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbp2 has been classified as Amber List (Moderate Evidence).","entity_name":"FBP2","entity_type":"gene"},{"created":"2022-05-13T06:52:57.988913+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14186","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FBP2 as Amber List (moderate evidence)","entity_name":"FBP2","entity_type":"gene"},{"created":"2022-05-13T06:52:57.973984+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14186","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbp2 has been classified as Amber List (Moderate Evidence).","entity_name":"FBP2","entity_type":"gene"},{"created":"2022-05-13T06:52:36.954674+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14185","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FBP2 was added\ngene: FBP2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: FBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FBP2 were set to 33977262\nPhenotypes for gene: FBP2 were set to Leukodystrophy, childhood-onset, remitting, MIM# 619864\nReview for gene: FBP2 was set to AMBER\nAdded comment: 8 individuals from 3 generations in a single family reported with a variant in this gene. The children presented with episode of regression and leukodystrophy in early childhood, from which they made a slow recovery. The adults had a broad range of neurobehavioural phenotypes but also had leukodystrophy on imaging. Some functional data presented (in vitro). \nSources: Expert list","entity_name":"FBP2","entity_type":"gene"},{"created":"2022-05-13T06:51:00.345532+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.266","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FBP2 as ready","entity_name":"FBP2","entity_type":"gene"},{"created":"2022-05-13T06:51:00.315552+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.266","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbp2 has been classified as Amber List (Moderate Evidence).","entity_name":"FBP2","entity_type":"gene"},{"created":"2022-05-13T06:50:55.671600+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.266","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FBP2 as Amber List (moderate evidence)","entity_name":"FBP2","entity_type":"gene"},{"created":"2022-05-13T06:50:55.661922+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.266","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbp2 has been classified as Amber List (Moderate Evidence).","entity_name":"FBP2","entity_type":"gene"},{"created":"2022-05-13T06:49:53.558025+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.265","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FBP2 was added\ngene: FBP2 was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: FBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FBP2 were set to 33977262\nPhenotypes for gene: FBP2 were set to Leukodystrophy, childhood-onset, remitting, MIM# \t619864\nReview for gene: FBP2 was set to AMBER\nAdded comment: 8 individuals from 3 generations in a single family reported with a variant in this gene. The children presented with episode of regression and leukodystrophy in early childhood, from which they made a slow recovery. The adults had a broad range of neurobehavioural phenotypes but also had leukodystrophy on imaging.\r\n\r\nSome functional data presented (in vitro). \nSources: Expert list","entity_name":"FBP2","entity_type":"gene"},{"created":"2022-05-13T06:38:45.617537+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14184","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TLR7 were changed from Immunodeficiency 74, COVID19-related, X-linked, MIM# 301051 to Immunodeficiency 74, COVID19-related, X-linked, MIM# 301051; Systemic lupus erythematosus 17, MIM# 301080","entity_name":"TLR7","entity_type":"gene"},{"created":"2022-05-13T06:38:19.998593+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14183","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TLR7 were set to 32706371","entity_name":"TLR7","entity_type":"gene"},{"created":"2022-05-13T06:37:55.950988+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14182","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TLR7 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"TLR7","entity_type":"gene"},{"created":"2022-05-13T06:37:33.968538+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14181","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Four affected individuals from two unrelated families and some functional data.; to: Immunodeficiency: Four affected individuals from two unrelated families and some functional data.","entity_name":"TLR7","entity_type":"gene"},{"created":"2022-05-13T06:37:20.179389+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14181","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TLR7: Added comment: SLE\r\nXLD: only affected females reported; 4 individuals from three unrelated families. Mouse model.; Changed publications: 32706371, 35477763; Changed phenotypes: Immunodeficiency 74, COVID19-related, X-linked, MIM# 301051, Systemic lupus erythematosus 17, MIM# 301080; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"TLR7","entity_type":"gene"},{"created":"2022-05-13T06:36:24.213203+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TLR7 as ready","entity_name":"TLR7","entity_type":"gene"},{"created":"2022-05-13T06:36:24.201809+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tlr7 has been classified as Green List (High Evidence).","entity_name":"TLR7","entity_type":"gene"},{"created":"2022-05-13T06:35:47.004225+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TLR7 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"TLR7","entity_type":"gene"},{"created":"2022-05-13T06:35:16.200397+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TLR7 as Green List (high evidence)","entity_name":"TLR7","entity_type":"gene"},{"created":"2022-05-13T06:35:16.191306+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tlr7 has been classified as Green List (High Evidence).","entity_name":"TLR7","entity_type":"gene"},{"created":"2022-05-13T06:34:33.439218+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TLR7 was added\ngene: TLR7 was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: TLR7 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: TLR7 were set to 35477763\nPhenotypes for gene: TLR7 were set to Systemic lupus erythematosus 17, MIM#\t301080\nReview for gene: TLR7 was set to GREEN\nAdded comment: XLD: only affected females reported; 4 individuals from three unrelated families. Mouse model. \nSources: Expert list","entity_name":"TLR7","entity_type":"gene"},{"created":"2022-05-13T06:30:38.948701+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14181","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MOV10L1 as ready","entity_name":"MOV10L1","entity_type":"gene"},{"created":"2022-05-13T06:30:38.939042+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14181","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mov10l1 has been classified as Amber List (Moderate Evidence).","entity_name":"MOV10L1","entity_type":"gene"},{"created":"2022-05-13T06:30:27.611103+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14181","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MOV10L1 as Amber List (moderate evidence)","entity_name":"MOV10L1","entity_type":"gene"},{"created":"2022-05-13T06:30:27.600001+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14181","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mov10l1 has been classified as Amber List (Moderate Evidence).","entity_name":"MOV10L1","entity_type":"gene"},{"created":"2022-05-13T06:30:07.379420+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14180","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MOV10L1 was added\ngene: MOV10L1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: MOV10L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MOV10L1 were set to 35476666; 20534472\nPhenotypes for gene: MOV10L1 were set to Spermatogenic failure 73, MIM#619878\nReview for gene: MOV10L1 was set to AMBER\nAdded comment: Two unrelated individuals and a mouse model. \nSources: Expert list","entity_name":"MOV10L1","entity_type":"gene"},{"created":"2022-05-12T18:22:17.277567+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14179","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RFX6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RFX6","entity_type":"gene"},{"created":"2022-05-12T18:04:53.637867+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14178","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RFC2 as ready","entity_name":"RFC2","entity_type":"gene"},{"created":"2022-05-12T18:04:53.617091+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14178","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rfc2 has been classified as Red List (Low Evidence).","entity_name":"RFC2","entity_type":"gene"},{"created":"2022-05-12T18:04:44.289100+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14178","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RFC2 as Red List (low evidence)","entity_name":"RFC2","entity_type":"gene"},{"created":"2022-05-12T18:04:44.280199+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14178","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rfc2 has been classified as Red List (Low Evidence).","entity_name":"RFC2","entity_type":"gene"},{"created":"2022-05-12T18:04:24.356131+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14177","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RFC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"RFC2","entity_type":"gene"}]}