{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=622","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=620","results":[{"created":"2023-03-28T06:10:51.408792+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.22","user_name":"Yetong Chen","item_type":"entity","text":"reviewed gene: AP1S2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19161147, 17617514; Phenotypes: Pettigrew syndrome, Fried syndrome, PG5; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"AP1S2","entity_type":"gene"},{"created":"2023-03-28T00:53:06.772253+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.22","user_name":"Yetong Chen","item_type":"entity","text":"reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301648, 23001123, 24262145, 30692772; Phenotypes: Aicardi-Goutieres syndrome 6, AGS6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADAR","entity_type":"gene"},{"created":"2023-03-27T22:33:53.075285+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.752","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"gene: PRDM10 was added\ngene: PRDM10 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PRDM10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRDM10 were set to 36440963\nPhenotypes for gene: PRDM10 were set to Fibrofolliculoma, HP:0030436; lipomatosis, MONDO:0006574; renal cell carcinoma, MONDO:0005086\nReview for gene: PRDM10 was set to RED\nAdded comment: PMID:36440963 reported a family presenting with skin and mucosal lesions, extensive lipomatosis and renal cell carcinomas. The proband was initially diagnosed with Birt-Hogg-Dubé syndrome (BHD, MIM #135150) based on the presence of fibrofolliculomas, but no pathogenic germline variant was detected in FLCN, the gene associated with BHD. A heterozygous missense variant (p.Cys677Tyr) was identified, which co-segregated with the phenotype in the family.\r\n\r\nFunctional studies show that Cys677Tyr loses affinity for a regulatory binding motif in the FLCN promoter, abrogating cellular FLCN mRNA and protein levels. Overexpressing inducible PRDM10Cys677Tyr in renal epithelial cells altered the transcription of multiple genes, showing overlap but also differences with the effects of knocking out FLCN.\r\n\r\nThis gene has not yet been associated with phenotypes either in OMIM or in Gene2Phenotype. \nSources: Literature","entity_name":"PRDM10","entity_type":"gene"},{"created":"2023-03-27T22:04:09.585324+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.22","user_name":"Yetong Chen","item_type":"entity","text":"gene: ACVR1 was added\ngene: ACVR1 was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: ACVR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ACVR1 were set to 27565519\nPhenotypes for gene: ACVR1 were set to Fibrodysplasia ossificans progressiva; FOP\nReview for gene: ACVR1 was set to GREEN\nAdded comment: PMID 27565519 reports that 4 individuals with an ACVR1 variant developed T2-hyperintensity with calcifications, while 2 individuals developed isolated calcification in the dentate nuclei. In addition, 7 individuals with an ACVR1 variant developed striatal calcifications in the basal ganglia. (However, the relationship between the reported individuals and their clinical presentations is not clear, and the online supplementary Table S3, which contains the clinico-genetic characteristics of patients, cannot be found.) \nSources: Expert list","entity_name":"ACVR1","entity_type":"gene"},{"created":"2023-03-27T20:57:37.717174+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.22","user_name":"Yetong Chen","item_type":"entity","text":"changed review comment from: PMID 21217755 reports 4 unrelated individuals with ACP5 variants who developed intracranial calcification.\r\nPMID 21217752 reports 4 individuals with ACP5 variants who developed brain calcification.; to: PMID 21217755 reports 4 unrelated individuals with ACP5 variants who developed intracranial calcification.\r\nPMID 21217752 reports 4 individuals with ACP5 variants who developed brain calcification.","entity_name":"ACP5","entity_type":"gene"},{"created":"2023-03-27T20:57:07.540181+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.22","user_name":"Yetong Chen","item_type":"entity","text":"reviewed gene: ACP5: Rating: GREEN; Mode of pathogenicity: None; Publications: 24372060, 21217755; Phenotypes: Spondyloenchondrodysplasia with immune dysregulation, SPENCDI; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACP5","entity_type":"gene"},{"created":"2023-03-27T16:38:12.535720+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.752","user_name":"Elena Savva","item_type":"entity","text":"commented on gene: COL12A1","entity_name":"COL12A1","entity_type":"gene"},{"created":"2023-03-27T16:34:39.044857+11:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.128","user_name":"Elena Savva","item_type":"entity","text":"changed review comment from: Additional infant proband but with limited clinical information, had chet canonical splice with a PTC.\r\n\r\nVCGS patient: homozygous for a canonical splice variant with a severe neonatal presentation of arthrogryposis and muscular hypotonia.\r\n\r\nTotal: three reports, upgraded to green; to: Additional infant proband but with limited clinical information, had chet canonical splice with a PTC.\r\n\r\nVCGS patient: homozygous for a canonical splice variant with a severe neonatal presentation of arthrogryposis and muscular hypotonia.\r\n\r\nTotal: three reports, upgraded to green","entity_name":"COL12A1","entity_type":"gene"},{"created":"2023-03-27T16:34:29.940718+11:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.128","user_name":"Elena Savva","item_type":"entity","text":"changed review comment from: Additional infant proband but with limited clinical information, had chet canonical splice with a PTC; to: Additional infant proband but with limited clinical information, had chet canonical splice with a PTC.\r\n\r\nVCGS patient: homozygous for a canonical splice variant with a severe neonatal presentation of arthrogryposis and muscular hypotonia.\r\n\r\nTotal: three reports, upgraded to green","entity_name":"COL12A1","entity_type":"gene"},{"created":"2023-03-27T16:34:10.259311+11:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.128","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: COL12A1 as Green List (high evidence)","entity_name":"COL12A1","entity_type":"gene"},{"created":"2023-03-27T16:34:10.251904+11:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.128","user_name":"Elena Savva","item_type":"entity","text":"Gene: col12a1 has been classified as Green List (High Evidence).","entity_name":"COL12A1","entity_type":"gene"},{"created":"2023-03-27T16:33:50.545713+11:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.127","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: COL12A1 were set to 24334604","entity_name":"COL12A1","entity_type":"gene"},{"created":"2023-03-27T16:33:29.661767+11:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.127","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: COL12A1 as Green List (high evidence)","entity_name":"COL12A1","entity_type":"gene"},{"created":"2023-03-27T16:33:29.632735+11:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.127","user_name":"Elena Savva","item_type":"entity","text":"Gene: col12a1 has been classified as Green List (High Evidence).","entity_name":"COL12A1","entity_type":"gene"},{"created":"2023-03-27T15:10:11.155804+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2123","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VAMP1 as ready","entity_name":"VAMP1","entity_type":"gene"},{"created":"2023-03-27T15:10:11.145882+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2123","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vamp1 has been classified as Green List (High Evidence).","entity_name":"VAMP1","entity_type":"gene"},{"created":"2023-03-27T15:10:05.559489+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2123","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: VAMP1 were changed from Spastic ataxia; Myasthenic syndrome, congenital, 25, MIM# 618323 to Myasthenic syndrome, congenital, 25, MIM# 618323","entity_name":"VAMP1","entity_type":"gene"},{"created":"2023-03-27T15:09:51.813245+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2122","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: VAMP1 were set to ","entity_name":"VAMP1","entity_type":"gene"},{"created":"2023-03-27T15:09:36.872914+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2121","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: VAMP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal","entity_name":"VAMP1","entity_type":"gene"},{"created":"2023-03-27T15:09:24.681773+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2120","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: VAMP1 as Green List (high evidence)","entity_name":"VAMP1","entity_type":"gene"},{"created":"2023-03-27T15:09:24.666004+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2120","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vamp1 has been classified as Green List (High Evidence).","entity_name":"VAMP1","entity_type":"gene"},{"created":"2023-03-27T15:09:13.313150+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2119","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: VAMP1.\nTag neurological tag was added to gene: VAMP1.","entity_name":"VAMP1","entity_type":"gene"},{"created":"2023-03-27T15:08:59.503742+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2119","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: VAMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28168212, 28253535, 28600779, 17102983; Phenotypes: Myasthenic syndrome, congenital, 25, MIM# 618323; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"VAMP1","entity_type":"gene"},{"created":"2023-03-27T14:58:02.494583+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2119","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUBB1 as ready","entity_name":"TUBB1","entity_type":"gene"},{"created":"2023-03-27T14:58:02.483300+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2119","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tubb1 has been classified as Green List (High Evidence).","entity_name":"TUBB1","entity_type":"gene"},{"created":"2023-03-27T14:57:56.859135+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2119","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TUBB1 as Green List (high evidence)","entity_name":"TUBB1","entity_type":"gene"},{"created":"2023-03-27T14:57:56.845743+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2119","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tubb1 has been classified as Green List (High Evidence).","entity_name":"TUBB1","entity_type":"gene"},{"created":"2023-03-27T14:57:46.403229+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2118","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: TUBB1.\nTag endocrine tag was added to gene: TUBB1.","entity_name":"TUBB1","entity_type":"gene"},{"created":"2023-03-27T14:57:32.645141+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2118","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TUBB1 was added\ngene: TUBB1 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: TUBB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TUBB1 were set to 30446499\nPhenotypes for gene: TUBB1 were set to Congenital hypothyroidism, MONDO:0018612, TUBB1-related; Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM # 613112\nReview for gene: TUBB1 was set to GREEN\nAdded comment: At least 3 families reported with congenital hypothyroidism associated with TUBB1 variants. Platelet abnormalities reported.\r\n\r\nTreatment: thyroxine.\r\n\r\nNon-genetic confirmatory testing: TFTs, blood film. \nSources: Expert list","entity_name":"TUBB1","entity_type":"gene"},{"created":"2023-03-27T14:54:32.553776+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Comment when marking as ready: Green for mono allelic variants, limited evidence for bi-allelic variants.; to: Comment when marking as ready: Green for mono allelic variants, limited evidence for bi-allelic variants.\r\n\r\nCongenital hypothyroidism in some.","entity_name":"TUBB1","entity_type":"gene"},{"created":"2023-03-27T14:49:43.097323+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.752","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC26A7 as ready","entity_name":"SLC26A7","entity_type":"gene"},{"created":"2023-03-27T14:49:43.086502+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.752","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc26a7 has been classified as Green List (High Evidence).","entity_name":"SLC26A7","entity_type":"gene"},{"created":"2023-03-27T14:49:30.975291+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.752","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC26A7 as Green List (high evidence)","entity_name":"SLC26A7","entity_type":"gene"},{"created":"2023-03-27T14:49:30.968134+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.752","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc26a7 has been classified as Green List (High Evidence).","entity_name":"SLC26A7","entity_type":"gene"},{"created":"2023-03-27T14:49:11.303347+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.751","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC26A7 was added\ngene: SLC26A7 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: SLC26A7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC26A7 were set to 34780050; 32486989; 31372509; 30333321\nPhenotypes for gene: SLC26A7 were set to Congenital hypothyroidism, MONDO:0018612, SLC26A7-related\nReview for gene: SLC26A7 was set to GREEN\nAdded comment: More than 10 unrelated families reported. \nSources: Expert list","entity_name":"SLC26A7","entity_type":"gene"},{"created":"2023-03-27T14:47:54.713570+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2117","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC26A7 as ready","entity_name":"SLC26A7","entity_type":"gene"},{"created":"2023-03-27T14:47:54.705921+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2117","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc26a7 has been classified as Green List (High Evidence).","entity_name":"SLC26A7","entity_type":"gene"},{"created":"2023-03-27T14:47:19.995793+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2117","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC26A7 as Green List (high evidence)","entity_name":"SLC26A7","entity_type":"gene"},{"created":"2023-03-27T14:47:19.977538+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2117","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc26a7 has been classified as Green List (High Evidence).","entity_name":"SLC26A7","entity_type":"gene"},{"created":"2023-03-27T14:47:08.869374+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2116","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC26A7 was added\ngene: SLC26A7 was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, endocrine tags were added to gene: SLC26A7.\nMode of inheritance for gene: SLC26A7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC26A7 were set to 34780050; 32486989; 31372509; 30333321\nPhenotypes for gene: SLC26A7 were set to Congenital hypothyroidism, MONDO:0018612, SLC26A7-related\nReview for gene: SLC26A7 was set to GREEN\nAdded comment: More than 10 unrelated families reported.\r\n\r\nCongenital hypothyroidism.\r\n\r\nTreatment: thyroxine.\r\n\r\nShould be detected through standard NBS. \nSources: Expert list","entity_name":"SLC26A7","entity_type":"gene"},{"created":"2023-03-27T14:45:30.329515+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC26A7 as ready","entity_name":"SLC26A7","entity_type":"gene"},{"created":"2023-03-27T14:45:30.319019+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc26a7 has been classified as Green List (High Evidence).","entity_name":"SLC26A7","entity_type":"gene"},{"created":"2023-03-27T14:45:26.024171+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC26A7 were changed from Primary congenital hypothyroidism (dyshormonogenesis) to Congenital hypothyroidism, MONDO:0018612, SLC26A7-related","entity_name":"SLC26A7","entity_type":"gene"},{"created":"2023-03-27T14:45:17.717014+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC26A7 were set to 30333321; 29546359","entity_name":"SLC26A7","entity_type":"gene"},{"created":"2023-03-27T14:45:01.141851+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC26A7: Rating: GREEN; Mode of pathogenicity: None; Publications: 34780050, 32486989, 31372509, 30333321; Phenotypes: Congenital hypothyroidism, MONDO:0018612, SLC26A7-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC26A7","entity_type":"gene"},{"created":"2023-03-27T14:37:15.842331+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2115","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OTX2 as ready","entity_name":"OTX2","entity_type":"gene"},{"created":"2023-03-27T14:37:15.834239+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2115","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: otx2 has been classified as Green List (High Evidence).","entity_name":"OTX2","entity_type":"gene"},{"created":"2023-03-27T14:37:09.665634+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2115","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: OTX2 as Green List (high evidence)","entity_name":"OTX2","entity_type":"gene"},{"created":"2023-03-27T14:37:09.647517+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2115","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: otx2 has been classified as Green List (High Evidence).","entity_name":"OTX2","entity_type":"gene"},{"created":"2023-03-27T14:36:56.725048+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2114","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OTX2 was added\ngene: OTX2 was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, endocrine tags were added to gene: OTX2.\nMode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: OTX2 were set to 18728160; 35320640; 33950863\nPhenotypes for gene: OTX2 were set to Pituitary hormone deficiency, combined, 6, MIM# 613986\nReview for gene: OTX2 was set to GREEN\nAdded comment: Variants in this gene have been associated with pituitary hormone deficiency with or without microphthalmia, including of TSH.\r\n\r\nCongenital onset.\r\n\r\nMicrophthalmia would present clinically in the newborn period. Infants with TSH deficiency should be detected by standard NBS.\r\n\r\nTreatment: thyroxine and other hormone replacements. \nSources: Expert list","entity_name":"OTX2","entity_type":"gene"},{"created":"2023-03-27T14:34:13.308145+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OTX2 as ready","entity_name":"OTX2","entity_type":"gene"},{"created":"2023-03-27T14:34:13.297885+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: otx2 has been classified as Green List (High Evidence).","entity_name":"OTX2","entity_type":"gene"},{"created":"2023-03-27T14:34:10.889381+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OTX2 were changed from GH, TSH, ACTH, LH, FSH deficiency; ectopic posterior pituitary; Anophthalmia Retinal dystrophy; normal or hypoplastic anterior pituitary; Pituitary hormone deficiency, combined, 6, 613986 to Pituitary hormone deficiency, combined, 6, MIM# 613986","entity_name":"OTX2","entity_type":"gene"},{"created":"2023-03-27T14:33:54.471219+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: OTX2 were set to 18628516; 26416826 (2015 review)","entity_name":"OTX2","entity_type":"gene"},{"created":"2023-03-27T14:33:31.145955+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: OTX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18728160, 35320640, 33950863; Phenotypes: Pituitary hormone deficiency, combined, 6, MIM# 613986; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"OTX2","entity_type":"gene"},{"created":"2023-03-27T14:15:42.331610+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2113","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HESX1 as ready","entity_name":"HESX1","entity_type":"gene"},{"created":"2023-03-27T14:15:42.317142+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2113","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hesx1 has been classified as Green List (High Evidence).","entity_name":"HESX1","entity_type":"gene"},{"created":"2023-03-27T14:15:37.545119+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2113","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HESX1 were changed from Septooptic dysplasia, MIM#\t182230; Pituitary hypoplasia to Pituitary hormone deficiency, combined, 5, MIM# 182230","entity_name":"HESX1","entity_type":"gene"},{"created":"2023-03-27T14:15:13.393766+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2112","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HESX1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"HESX1","entity_type":"gene"},{"created":"2023-03-27T14:15:02.443872+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2111","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HESX1 as Green List (high evidence)","entity_name":"HESX1","entity_type":"gene"},{"created":"2023-03-27T14:15:02.434949+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2111","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hesx1 has been classified as Green List (High Evidence).","entity_name":"HESX1","entity_type":"gene"},{"created":"2023-03-27T14:14:42.983002+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2110","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: HESX1.\nTag endocrine tag was added to gene: HESX1.","entity_name":"HESX1","entity_type":"gene"},{"created":"2023-03-27T14:14:29.531983+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2110","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HESX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 5, MIM# 182230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"HESX1","entity_type":"gene"},{"created":"2023-03-27T12:30:12.506951+11:00","panel_name":"Congenital hypothyroidism","panel_id":3471,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDCA8 were changed from Congenital hypothyroidism; No OMIM number; thyroid dysgenesis to Congenital hypothyroidism, MONDO:0018612, CDCA8-related","entity_name":"CDCA8","entity_type":"gene"},{"created":"2023-03-27T12:30:01.588553+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2110","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDCA8 as ready","entity_name":"CDCA8","entity_type":"gene"},{"created":"2023-03-27T12:30:01.570672+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2110","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdca8 has been classified as Green List (High Evidence).","entity_name":"CDCA8","entity_type":"gene"},{"created":"2023-03-27T12:29:53.171818+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2110","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CDCA8 as Green List (high evidence)","entity_name":"CDCA8","entity_type":"gene"},{"created":"2023-03-27T12:29:53.163663+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2110","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdca8 has been classified as Green List (High Evidence).","entity_name":"CDCA8","entity_type":"gene"},{"created":"2023-03-27T12:29:38.804126+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2109","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CDCA8 was added\ngene: CDCA8 was added to Baby Screen+ newborn screening. Sources: Expert list\ntreatable, endocrine tags were added to gene: CDCA8.\nMode of inheritance for gene: CDCA8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: CDCA8 were set to 28025328; 29546359\nPhenotypes for gene: CDCA8 were set to Congenital hypothyroidism, MONDO:0018612, CDCA8-related\nReview for gene: CDCA8 was set to GREEN\nAdded comment: 4 families (1 with bilallelic variants [parent affected as HTZ], 3 with monoallelic variants) with functional evidence of variants.\r\n\r\nTreatment: thyroxine\r\n\r\nLikely to be detected on standard NBS. \nSources: Expert list","entity_name":"CDCA8","entity_type":"gene"},{"created":"2023-03-27T12:21:20.711748+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.750","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LCP2 were set to 33231617","entity_name":"LCP2","entity_type":"gene"},{"created":"2023-03-27T12:20:57.958140+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.749","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LCP2 as Green List (high evidence)","entity_name":"LCP2","entity_type":"gene"},{"created":"2023-03-27T12:20:57.943665+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.749","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lcp2 has been classified as Green List (High Evidence).","entity_name":"LCP2","entity_type":"gene"},{"created":"2023-03-27T12:20:39.863900+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.748","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LCP2: Added comment: PMID 36474126: second individual reported. Functional data.; Changed rating: GREEN; Changed publications: 33231617, 36474126","entity_name":"LCP2","entity_type":"gene"},{"created":"2023-03-27T12:19:41.855711+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.34","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LCP2 as ready","entity_name":"LCP2","entity_type":"gene"},{"created":"2023-03-27T12:19:41.796742+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lcp2 has been classified as Green List (High Evidence).","entity_name":"LCP2","entity_type":"gene"},{"created":"2023-03-27T12:08:48.048975+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.34","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LCP2 were changed from  to Immunodeficiency 81, MIM# 619374","entity_name":"LCP2","entity_type":"gene"},{"created":"2023-03-27T12:08:13.353006+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.33","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LCP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 81, MIM#  619374; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LCP2","entity_type":"gene"},{"created":"2023-03-27T12:07:43.996008+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.33","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LCP2 as Green List (high evidence)","entity_name":"LCP2","entity_type":"gene"},{"created":"2023-03-27T12:07:43.987334+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.33","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lcp2 has been classified as Green List (High Evidence).","entity_name":"LCP2","entity_type":"gene"},{"created":"2023-03-27T12:03:07.437811+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2108","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOXN1 as ready","entity_name":"FOXN1","entity_type":"gene"},{"created":"2023-03-27T12:03:07.425815+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2108","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxn1 has been classified as Green List (High Evidence).","entity_name":"FOXN1","entity_type":"gene"},{"created":"2023-03-27T12:03:02.736116+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2108","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FOXN1 were changed from Congenital alopecia with T-cell immunodeficiency; T-cell immunodeficiency, congenital alopecia, and nail dystrophy\t, MIM#601705; T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant, MIM#\t618806 to T-cell immunodeficiency, congenital alopecia, and nail dystrophy, autosomal recessive MIM# 601705; T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant, MIM#t 618806","entity_name":"FOXN1","entity_type":"gene"},{"created":"2023-03-27T12:02:48.416772+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2107","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FOXN1 were set to ","entity_name":"FOXN1","entity_type":"gene"},{"created":"2023-03-27T12:02:36.080530+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2106","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FOXN1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"FOXN1","entity_type":"gene"},{"created":"2023-03-27T12:02:24.943535+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2105","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FOXN1 as Green List (high evidence)","entity_name":"FOXN1","entity_type":"gene"},{"created":"2023-03-27T12:02:24.935097+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2105","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxn1 has been classified as Green List (High Evidence).","entity_name":"FOXN1","entity_type":"gene"},{"created":"2023-03-27T12:02:15.687417+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2104","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: FOXN1.\nTag immunological tag was added to gene: FOXN1.","entity_name":"FOXN1","entity_type":"gene"},{"created":"2023-03-27T12:01:38.466450+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2104","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FOXN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31447097, 18339010, 10206641; Phenotypes: T-cell immunodeficiency, congenital alopecia, and nail dystrophy, autosomal recessive MIM# 601705, T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant, MIM#t 618806; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"FOXN1","entity_type":"gene"},{"created":"2023-03-27T11:56:35.341852+11:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.126","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: COL12A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28973083, 24334604; Phenotypes: ?Ullrich congenital muscular dystrophy 2 MIM#616470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COL12A1","entity_type":"gene"},{"created":"2023-03-27T11:53:14.208479+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRPV6 as ready","entity_name":"TRPV6","entity_type":"gene"},{"created":"2023-03-27T11:53:14.199661+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trpv6 has been classified as Green List (High Evidence).","entity_name":"TRPV6","entity_type":"gene"},{"created":"2023-03-27T11:52:43.603673+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRPV6 were changed from  to Hyperparathyroidism, transient neonatal, MIM# 618188","entity_name":"TRPV6","entity_type":"gene"},{"created":"2023-03-27T11:52:14.398413+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRPV6 were set to ","entity_name":"TRPV6","entity_type":"gene"},{"created":"2023-03-27T11:51:46.663517+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TRPV6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRPV6","entity_type":"gene"},{"created":"2023-03-27T11:51:15.901223+11:00","panel_name":"Osteogenesis Imperfecta","panel_id":147,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TRPV6: Rating: GREEN; Mode of pathogenicity: None; Publications: 29861107; Phenotypes: Hyperparathyroidism, transient neonatal, MIM# 618188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRPV6","entity_type":"gene"},{"created":"2023-03-27T11:49:06.759560+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2104","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM38B as ready","entity_name":"TMEM38B","entity_type":"gene"},{"created":"2023-03-27T11:49:06.752171+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2104","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem38b has been classified as Green List (High Evidence).","entity_name":"TMEM38B","entity_type":"gene"},{"created":"2023-03-27T11:49:00.740672+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2104","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMEM38B as Green List (high evidence)","entity_name":"TMEM38B","entity_type":"gene"},{"created":"2023-03-27T11:49:00.729103+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2104","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem38b has been classified as Green List (High Evidence).","entity_name":"TMEM38B","entity_type":"gene"},{"created":"2023-03-27T11:48:49.042453+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.2103","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: TMEM38B.\nTag skeletal tag was added to gene: TMEM38B.","entity_name":"TMEM38B","entity_type":"gene"}]}