{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=541","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=539","results":[{"created":"2023-10-05T12:26:13.362662+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1926","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: ZBTB47 as Green List (high evidence)","entity_name":"ZBTB47","entity_type":"gene"},{"created":"2023-10-05T12:26:13.353093+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1926","user_name":"Elena Savva","item_type":"entity","text":"Gene: zbtb47 has been classified as Green List (High Evidence).","entity_name":"ZBTB47","entity_type":"gene"},{"created":"2023-10-05T12:25:55.865694+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5509","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: ZBTB47 as ready","entity_name":"ZBTB47","entity_type":"gene"},{"created":"2023-10-05T12:25:55.826765+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5509","user_name":"Elena Savva","item_type":"entity","text":"Gene: zbtb47 has been classified as Red List (Low Evidence).","entity_name":"ZBTB47","entity_type":"gene"},{"created":"2023-10-05T12:25:45.669083+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1925","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: ZBTB47 as ready","entity_name":"ZBTB47","entity_type":"gene"},{"created":"2023-10-05T12:25:45.654570+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1925","user_name":"Elena Savva","item_type":"entity","text":"Gene: zbtb47 has been classified as Red List (Low Evidence).","entity_name":"ZBTB47","entity_type":"gene"},{"created":"2023-10-05T12:25:36.503805+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1248","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: ZBTB47 as ready","entity_name":"ZBTB47","entity_type":"gene"},{"created":"2023-10-05T12:25:36.456654+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1248","user_name":"Elena Savva","item_type":"entity","text":"Gene: zbtb47 has been classified as Green List (High Evidence).","entity_name":"ZBTB47","entity_type":"gene"},{"created":"2023-10-05T12:25:30.650003+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1248","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: ZBTB47 as Green List (high evidence)","entity_name":"ZBTB47","entity_type":"gene"},{"created":"2023-10-05T12:25:30.638630+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1248","user_name":"Elena Savva","item_type":"entity","text":"Gene: zbtb47 has been classified as Green List (High Evidence).","entity_name":"ZBTB47","entity_type":"gene"},{"created":"2023-10-05T12:24:33.014005+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5509","user_name":"Andrew Fennell","item_type":"entity","text":"gene: ATP2B2 was added\ngene: ATP2B2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ATP2B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP2B2 were set to PMID: 37675773\nPhenotypes for gene: ATP2B2 were set to Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related\nMode of pathogenicity for gene: ATP2B2 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: ATP2B2 was set to GREEN\nAdded comment: 7 unrelated individuals reported with a variable phenotype including dystonia, ataxia, intellectual disability, behavioural symptoms, and seizures.\r\n\r\nAll patients have either missense variants or frameshift variants in the penultimate exon not expected to lead to NMD. This is in contrast to patients with isolated deafness previously reported to have nonsense, frameshift, or splice-site variants outside of this region. \nSources: Literature","entity_name":"ATP2B2","entity_type":"gene"},{"created":"2023-10-05T12:23:44.095654+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.231","user_name":"Andrew Fennell","item_type":"entity","text":"gene: ATP2B2 was added\ngene: ATP2B2 was added to Dystonia - complex. Sources: Literature\nMode of inheritance for gene: ATP2B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP2B2 were set to PMID: 37675773\nPhenotypes for gene: ATP2B2 were set to Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related\nMode of pathogenicity for gene: ATP2B2 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: ATP2B2 was set to GREEN\nAdded comment: 7 unrelated individuals reported with a variable phenotype including dystonia, ataxia, intellectual disability, behavioural symptoms, and seizures.\r\n\r\nAll patients have either missense variants or frameshift variants in the penultimate exon not expected to lead to NMD. This is in contrast to patients with isolated deafness previously reported to have nonsense, frameshift, or splice-site variants outside of this region. \nSources: Literature","entity_name":"ATP2B2","entity_type":"gene"},{"created":"2023-10-05T12:23:17.107479+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1247","user_name":"Elena Savva","item_type":"entity","text":"gene: ZBTB47 was added\ngene: ZBTB47 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ZBTB47 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ZBTB47 were set to 37743782\nPhenotypes for gene: ZBTB47 were set to Neurodevelopmental disorder (MONDO#0700092), ZBTB47-related\nReview for gene: ZBTB47 was set to GREEN\nAdded comment: PMID 37743782: \r\n- 5 patients with de novo missense, 4/5 have a recurring p.Gly477Lys. Probands have intellectual disability (5/5), seizures (5/5), hypotonia (5/5), gait abnormalities, and variable movement abnormalities (5/5). \r\n- Missense variants are positioned close to His and Cys residues involved in forming C2H2 zinc fingers.\r\n- No functional studies performed\r\n- Minimal PTCs in gnomAD \nSources: Literature","entity_name":"ZBTB47","entity_type":"gene"},{"created":"2023-10-05T12:22:19.476028+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1246","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIF4A were changed from Mental retardation, X-linked 100, MIM# 300923 to Mental retardation, X-linked 100, MIM# 300923; Taurodontism, microdontia, and dens invaginatus (MIM#313490)","entity_name":"KIF4A","entity_type":"gene"},{"created":"2023-10-05T12:21:55.870363+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1925","user_name":"Elena Savva","item_type":"entity","text":"gene: ZBTB47 was added\ngene: ZBTB47 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: ZBTB47 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ZBTB47 were set to 37743782\nPhenotypes for gene: ZBTB47 were set to Neurodevelopmental disorder (MONDO#0700092), ZBTB47-related\nReview for gene: ZBTB47 was set to GREEN\nAdded comment: PMID 37743782: \r\n- 5 patients with de novo missense, 4/5 have a recurring p.Gly477Lys. Probands have intellectual disability (5/5), seizures (5/5), hypotonia (5/5), gait abnormalities, and variable movement abnormalities (5/5). \r\n- Missense variants are positioned close to His and Cys residues involved in forming C2H2 zinc fingers.\r\n- No functional studies performed\r\n- Minimal PTCs in gnomAD \nSources: Literature","entity_name":"ZBTB47","entity_type":"gene"},{"created":"2023-10-05T12:21:50.637047+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1245","user_name":"Andrew Fennell","item_type":"entity","text":"reviewed gene: ATP2B2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 37675773; Phenotypes: Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ATP2B2","entity_type":"gene"},{"created":"2023-10-05T12:21:49.428001+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5509","user_name":"Daniel Flanagan","item_type":"entity","text":"gene: COG3 was added\ngene: COG3 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: COG3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COG3 were set to PMID: 37711075\nPhenotypes for gene: COG3 were set to Neurodevelopmental disorder (MONDO#0700092), COG3-related\nReview for gene: COG3 was set to AMBER\nAdded comment: Two COG3 homozygous missense variants in four individuals from two unrelated consanguineous families. Clinical phenotypes of affected individuals include global developmental delay, severe intellectual disability, microcephaly, epilepsy, facial dysmorphism, and variable neurological findings. \nSources: Expert list","entity_name":"COG3","entity_type":"gene"},{"created":"2023-10-05T12:20:56.359673+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5509","user_name":"Elena Savva","item_type":"entity","text":"gene: ZBTB47 was added\ngene: ZBTB47 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ZBTB47 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ZBTB47 were set to 37743782\nPhenotypes for gene: ZBTB47 were set to Neurodevelopmental disorder (MONDO#0700092), ZBTB47-related\nReview for gene: ZBTB47 was set to GREEN\nAdded comment: PMID 37743782: \r\n- 5 patients with de novo missense, 4/5 have a recurring p.Gly477Lys. Probands have intellectual disability (5/5), seizures (5/5), hypotonia (5/5), gait abnormalities, and variable movement abnormalities (5/5). \r\n- Missense variants are positioned close to His and Cys residues involved in forming C2H2 zinc fingers.\r\n- No functional studies performed\r\n- Minimal PTCs in gnomAD \nSources: Literature","entity_name":"ZBTB47","entity_type":"gene"},{"created":"2023-10-05T12:19:00.928085+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1245","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: KIF4A: Rating: AMBER; Mode of pathogenicity: None; Publications: 31616463; Phenotypes: Taurodontism, microdontia, and dens invaginatus (MIM#313490); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"KIF4A","entity_type":"gene"},{"created":"2023-10-05T11:57:37.779998+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5508","user_name":"Kaitlyn Dianna Weldon","item_type":"entity","text":"reviewed gene: TANGO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29369572; Phenotypes: obsolete metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration MONDO:0014812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TANGO2","entity_type":"gene"},{"created":"2023-10-05T11:56:06.282762+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5508","user_name":"Kaitlyn Dianna Weldon","item_type":"entity","text":"reviewed gene: TAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 28255985; Phenotypes: tyrosinemia type II MONDO:0010160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TAT","entity_type":"gene"},{"created":"2023-10-05T11:45:25.366426+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5508","user_name":"Kaitlyn Dianna Weldon","item_type":"entity","text":"reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 25299040; Phenotypes: Barth syndrome MONDO:0010543; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"TAZ","entity_type":"gene"},{"created":"2023-10-05T11:42:29.336963+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5508","user_name":"Kaitlyn Dianna Weldon","item_type":"entity","text":"reviewed gene: TBC1D24: Rating: GREEN; Mode of pathogenicity: None; Publications: 25719194; Phenotypes: familial infantile myoclonic epilepsy MONDO:0011506, DOORS syndrome MONDO:0009079; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TBC1D24","entity_type":"gene"},{"created":"2023-10-05T11:28:09.000035+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5508","user_name":"Kaitlyn Dianna Weldon","item_type":"entity","text":"reviewed gene: TCF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22934316; Phenotypes: Pitt-Hopkins syndrome MONDO:0012589; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TCF4","entity_type":"gene"},{"created":"2023-10-05T11:17:32.998378+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5508","user_name":"Kaitlyn Dianna Weldon","item_type":"entity","text":"reviewed gene: TMCO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1204988, 1640432, 15326640, 20018682; Phenotypes: obsolete cerebrofaciothoracic dysplasia MONDO:0008952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMCO1","entity_type":"gene"},{"created":"2023-10-05T11:12:14.375102+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5508","user_name":"Kaitlyn Dianna Weldon","item_type":"entity","text":"reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: None; Publications: 20036350; Phenotypes: Joubert syndrome 2 MONDO:0011963; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM216","entity_type":"gene"},{"created":"2023-10-05T11:01:12.281976+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5508","user_name":"Kaitlyn Dianna Weldon","item_type":"entity","text":"reviewed gene: TMEM240: Rating: GREEN; Mode of pathogenicity: None; Publications: 25070513; Phenotypes: spinocerebellar ataxia type 21 MONDO:0011833; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TMEM240","entity_type":"gene"},{"created":"2023-10-05T09:56:02.847970+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5508","user_name":"Kaitlyn Dianna Weldon","item_type":"entity","text":"reviewed gene: TMEM70: Rating: GREEN; Mode of pathogenicity: None; Publications: 18953340; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM70","entity_type":"gene"},{"created":"2023-10-04T14:30:54.744334+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.107","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WNK1 as ready","entity_name":"WNK1","entity_type":"gene"},{"created":"2023-10-04T14:30:54.732132+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.107","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnk1 has been classified as Green List (High Evidence).","entity_name":"WNK1","entity_type":"gene"},{"created":"2023-10-04T14:30:51.486470+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.107","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WNK1 were changed from Neuropathy, hereditary sensory and autonomic, type I to Pseudohypoaldosteronism 2C (PHA2C), MIM#614492","entity_name":"WNK1","entity_type":"gene"},{"created":"2023-10-04T14:29:56.290598+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.106","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: WNK1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"WNK1","entity_type":"gene"},{"created":"2023-10-04T14:29:47.609641+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.105","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: WNK1 as Green List (high evidence)","entity_name":"WNK1","entity_type":"gene"},{"created":"2023-10-04T14:29:47.577012+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.105","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnk1 has been classified as Green List (High Evidence).","entity_name":"WNK1","entity_type":"gene"},{"created":"2023-10-04T14:29:37.782251+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.104","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: WNK1.\nTag endocrine tag was added to gene: WNK1.","entity_name":"WNK1","entity_type":"gene"},{"created":"2023-10-04T14:29:26.942268+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.104","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: WNK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoaldosteronism 2C (PHA2C), MIM#614492; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"WNK1","entity_type":"gene"},{"created":"2023-10-04T14:27:36.474101+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.104","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRIM28 as ready","entity_name":"TRIM28","entity_type":"gene"},{"created":"2023-10-04T14:27:36.460741+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.104","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trim28 has been classified as Green List (High Evidence).","entity_name":"TRIM28","entity_type":"gene"},{"created":"2023-10-04T14:27:29.276069+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.104","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRIM28 as Green List (high evidence)","entity_name":"TRIM28","entity_type":"gene"},{"created":"2023-10-04T14:27:29.263089+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.104","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trim28 has been classified as Green List (High Evidence).","entity_name":"TRIM28","entity_type":"gene"},{"created":"2023-10-04T14:27:20.025646+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.103","user_name":"Zornitza Stark","item_type":"entity","text":"Tag cancer tag was added to gene: TRIM28.\nTag treatable tag was added to gene: TRIM28.","entity_name":"TRIM28","entity_type":"gene"},{"created":"2023-10-04T14:27:10.377253+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.103","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TRIM28 was added\ngene: TRIM28 was added to BabyScreen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: TRIM28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRIM28 were set to 30694527\nPhenotypes for gene: TRIM28 were set to Wilms tumour, MONDO:0006058, TRIM28-related\nReview for gene: TRIM28 was set to GREEN\nAdded comment: Established gene-disease association, more than 10 individuals reported.\r\n\r\nOnset in childhood.\r\n\r\nIncluded for completeness as managed similarly to WT1. \nSources: Expert list","entity_name":"TRIM28","entity_type":"gene"},{"created":"2023-10-04T14:25:10.575372+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.102","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRHR as ready","entity_name":"TRHR","entity_type":"gene"},{"created":"2023-10-04T14:25:10.552181+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trhr has been classified as Green List (High Evidence).","entity_name":"TRHR","entity_type":"gene"},{"created":"2023-10-04T14:25:06.944896+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.102","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRHR were changed from Thyrotropin-releasing hormone resistance, generalized to Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573","entity_name":"TRHR","entity_type":"gene"},{"created":"2023-10-04T14:24:53.634624+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.101","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRHR were set to ","entity_name":"TRHR","entity_type":"gene"},{"created":"2023-10-04T14:24:40.813237+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.100","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRHR as Green List (high evidence)","entity_name":"TRHR","entity_type":"gene"},{"created":"2023-10-04T14:24:40.791793+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.100","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trhr has been classified as Green List (High Evidence).","entity_name":"TRHR","entity_type":"gene"},{"created":"2023-10-04T14:24:31.035421+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.99","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: TRHR.\nTag endocrine tag was added to gene: TRHR.","entity_name":"TRHR","entity_type":"gene"},{"created":"2023-10-04T14:24:19.923455+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.99","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TRHR: Rating: GREEN; Mode of pathogenicity: None; Publications: 9141550, 19213692, 26735259, 28419241, 32319661; Phenotypes: Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRHR","entity_type":"gene"},{"created":"2023-10-04T14:22:27.952017+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.99","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SGPL1 as Green List (high evidence)","entity_name":"SGPL1","entity_type":"gene"},{"created":"2023-10-04T14:22:27.937527+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.99","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sgpl1 has been classified as Green List (High Evidence).","entity_name":"SGPL1","entity_type":"gene"},{"created":"2023-10-04T14:22:18.148232+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.98","user_name":"Zornitza Stark","item_type":"entity","text":"Tag renal was removed from gene: SGPL1.\nTag treatable tag was added to gene: SGPL1.\nTag endocrine tag was added to gene: SGPL1.","entity_name":"SGPL1","entity_type":"gene"},{"created":"2023-10-04T14:22:01.211066+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.98","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SGPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 14 MIM#617575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SGPL1","entity_type":"gene"},{"created":"2023-10-04T14:20:24.706602+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.98","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCNN1G as ready","entity_name":"SCNN1G","entity_type":"gene"},{"created":"2023-10-04T14:20:24.687480+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.98","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scnn1g has been classified as Green List (High Evidence).","entity_name":"SCNN1G","entity_type":"gene"},{"created":"2023-10-04T14:20:15.246502+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.98","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCNN1G were changed from Pseudohypoaldosteronism, type I, MIM#\t264350; Pseudohypoaldosteronism to Pseudohypoaldosteronism, type I, MIM#\t264350","entity_name":"SCNN1G","entity_type":"gene"},{"created":"2023-10-04T14:20:02.898989+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.97","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SCNN1G as Green List (high evidence)","entity_name":"SCNN1G","entity_type":"gene"},{"created":"2023-10-04T14:20:02.882199+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.97","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scnn1g has been classified as Green List (High Evidence).","entity_name":"SCNN1G","entity_type":"gene"},{"created":"2023-10-04T14:19:52.935307+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.96","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: SCNN1G.\nTag endocrine tag was added to gene: SCNN1G.","entity_name":"SCNN1G","entity_type":"gene"},{"created":"2023-10-04T14:19:41.632051+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.96","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SCNN1G: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoaldosteronism, type I, MIM# 264350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SCNN1G","entity_type":"gene"},{"created":"2023-10-04T14:16:25.790745+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.96","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPS7 as ready","entity_name":"RPS7","entity_type":"gene"},{"created":"2023-10-04T14:16:25.782345+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.96","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rps7 has been classified as Green List (High Evidence).","entity_name":"RPS7","entity_type":"gene"},{"created":"2023-10-04T14:16:20.705157+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.96","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RPS7 were changed from Diamond-Blackfan anaemia 8, MIM#\t612563; Diamond-Blackfan anemia to Diamond-Blackfan anaemia 8, MIM#\t612563","entity_name":"RPS7","entity_type":"gene"},{"created":"2023-10-04T14:16:09.903677+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.95","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RPS7 were set to ","entity_name":"RPS7","entity_type":"gene"},{"created":"2023-10-04T14:15:57.392513+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.94","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPS7 as Green List (high evidence)","entity_name":"RPS7","entity_type":"gene"},{"created":"2023-10-04T14:15:57.381265+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.94","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rps7 has been classified as Green List (High Evidence).","entity_name":"RPS7","entity_type":"gene"},{"created":"2023-10-04T14:15:49.165358+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.93","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: RPS7.\nTag haematological tag was added to gene: RPS7.","entity_name":"RPS7","entity_type":"gene"},{"created":"2023-10-04T14:15:33.581191+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.93","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RPS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 19061985, 23718193, 27882484, 32772263; Phenotypes: Diamond-Blackfan anemia 8, MIM# 612563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RPS7","entity_type":"gene"},{"created":"2023-10-04T14:14:38.945689+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.234","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: DDX3X as ready","entity_name":"DDX3X","entity_type":"gene"},{"created":"2023-10-04T14:14:38.918813+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.234","user_name":"Ain Roesley","item_type":"entity","text":"Gene: ddx3x has been classified as Green List (High Evidence).","entity_name":"DDX3X","entity_type":"gene"},{"created":"2023-10-04T14:13:49.795766+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.93","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPL35A as ready","entity_name":"RPL35A","entity_type":"gene"},{"created":"2023-10-04T14:13:49.780355+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.93","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl35a has been classified as Green List (High Evidence).","entity_name":"RPL35A","entity_type":"gene"},{"created":"2023-10-04T14:13:23.696318+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.234","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: DDX3X as Green List (high evidence)","entity_name":"DDX3X","entity_type":"gene"},{"created":"2023-10-04T14:13:23.678737+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.234","user_name":"Ain Roesley","item_type":"entity","text":"Gene: ddx3x has been classified as Green List (High Evidence).","entity_name":"DDX3X","entity_type":"gene"},{"created":"2023-10-04T14:11:36.244398+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.93","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RPL35A were changed from Diamond-Blackfan anaemia 5, MIM#\t612528; Diamond-Blackfan anemia to Diamond-Blackfan anaemia 5, MIM#\t612528","entity_name":"RPL35A","entity_type":"gene"},{"created":"2023-10-04T14:11:18.666292+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.92","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RPL35A were set to ","entity_name":"RPL35A","entity_type":"gene"},{"created":"2023-10-04T14:11:01.292480+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.91","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPL35A as Green List (high evidence)","entity_name":"RPL35A","entity_type":"gene"},{"created":"2023-10-04T14:11:01.276341+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.91","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl35a has been classified as Green List (High Evidence).","entity_name":"RPL35A","entity_type":"gene"},{"created":"2023-10-04T14:10:48.547371+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.90","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: RPL35A.\nTag haematological tag was added to gene: RPL35A.","entity_name":"RPL35A","entity_type":"gene"},{"created":"2023-10-04T14:10:36.074357+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.90","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RPL35A: Rating: GREEN; Mode of pathogenicity: None; Publications: 18535205, 32241839; Phenotypes: Diamond-Blackfan anemia 5, MIM# 612528; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RPL35A","entity_type":"gene"},{"created":"2023-10-04T14:08:31.284330+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.90","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: REST as ready","entity_name":"REST","entity_type":"gene"},{"created":"2023-10-04T14:08:31.275827+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.90","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rest has been classified as Green List (High Evidence).","entity_name":"REST","entity_type":"gene"},{"created":"2023-10-04T14:08:08.644538+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.90","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: REST as Green List (high evidence)","entity_name":"REST","entity_type":"gene"},{"created":"2023-10-04T14:08:08.621140+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.90","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rest has been classified as Green List (High Evidence).","entity_name":"REST","entity_type":"gene"},{"created":"2023-10-04T14:07:57.571645+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.89","user_name":"Zornitza Stark","item_type":"entity","text":"gene: REST was added\ngene: REST was added to BabyScreen+ newborn screening. Sources: Expert list\ncancer, treatable tags were added to gene: REST.\nMode of inheritance for gene: REST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: REST were set to 26551668; 34308104\nPhenotypes for gene: REST were set to {Wilms tumor 6, susceptibility to}, MIM# 616806\nReview for gene: REST was set to GREEN\nAdded comment: Established association, more than 10 families reported.\r\n\r\nChildhood onset.\r\n\r\nIncluded for completeness as managed similarly to WT1. \nSources: Expert list","entity_name":"REST","entity_type":"gene"},{"created":"2023-10-04T14:06:21.883969+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.88","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PSTPIP1 as ready","entity_name":"PSTPIP1","entity_type":"gene"},{"created":"2023-10-04T14:06:21.863202+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.88","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pstpip1 has been classified as Green List (High Evidence).","entity_name":"PSTPIP1","entity_type":"gene"},{"created":"2023-10-04T14:06:11.196282+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.88","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PSTPIP1 as Green List (high evidence)","entity_name":"PSTPIP1","entity_type":"gene"},{"created":"2023-10-04T14:06:11.188484+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.88","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pstpip1 has been classified as Green List (High Evidence).","entity_name":"PSTPIP1","entity_type":"gene"},{"created":"2023-10-04T14:05:57.958657+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.87","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PSTPIP1 was added\ngene: PSTPIP1 was added to BabyScreen+ newborn screening. Sources: Expert list\ntreatable, immunological tags were added to gene: PSTPIP1.\nMode of inheritance for gene: PSTPIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PSTPIP1 were set to Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416\nReview for gene: PSTPIP1 was set to GREEN\nAdded comment: Established gene-disease association.\r\n\r\nOnset in childhood.\r\n\r\nTreatment: adalimumab and tacrolimus, NSAIDs, corticosteroids, BMT\r\n\r\nnon-genetic confirmatory testing: no \nSources: Expert list","entity_name":"PSTPIP1","entity_type":"gene"},{"created":"2023-10-04T14:03:41.713366+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.86","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PPOX as ready","entity_name":"PPOX","entity_type":"gene"},{"created":"2023-10-04T14:03:41.699933+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.86","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppox has been classified as Green List (High Evidence).","entity_name":"PPOX","entity_type":"gene"},{"created":"2023-10-04T14:03:38.345424+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.86","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PPOX were changed from Porphyria variegata to Variegate porphyria, childhood-onset, MIM# 620483","entity_name":"PPOX","entity_type":"gene"},{"created":"2023-10-04T14:03:26.256456+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.85","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: PPOX.\nTag haematological tag was added to gene: PPOX.","entity_name":"PPOX","entity_type":"gene"},{"created":"2023-10-04T14:03:16.717075+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.85","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PPOX was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PPOX","entity_type":"gene"},{"created":"2023-10-04T14:03:06.998222+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.84","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PPOX as Green List (high evidence)","entity_name":"PPOX","entity_type":"gene"},{"created":"2023-10-04T14:03:06.977337+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.84","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppox has been classified as Green List (High Evidence).","entity_name":"PPOX","entity_type":"gene"},{"created":"2023-10-04T14:02:52.164276+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.83","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Variegate porphyria, childhood-onset, MIM# 620483; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PPOX","entity_type":"gene"},{"created":"2023-10-04T14:00:23.079728+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.83","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POMC as ready","entity_name":"POMC","entity_type":"gene"}]}