{"count":221303,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1923","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1921","results":[{"created":"2020-02-24T16:04:32.254036+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1435","user_name":"Kristin Rigbye","item_type":"entity","text":"changed review comment from: A homozygous and compound heterozygous nonsense and missense variants reported. Variants shown to result in a loss of function (PMID: 28969387).; to: Homozygous and compound heterozygous nonsense and missense variants reported. Variants shown to result in a loss of function (PMID: 28969387).","entity_name":"WDR81","entity_type":"gene"},{"created":"2020-02-24T16:04:17.668997+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1435","user_name":"Kristin Rigbye","item_type":"entity","text":"changed review comment from: A few homozygous families reported to date. Variants are expected to results in a loss of function, although functional studies have not been performed.; to: A homozygous and compound heterozygous nonsense and missense variants reported. Variants shown to result in a loss of function (PMID: 28969387).","entity_name":"WDR81","entity_type":"gene"},{"created":"2020-02-24T15:54:50.482508+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.613","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 24706016, 24259184, 29159939; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"PIGA","entity_type":"gene"},{"created":"2020-02-24T15:12:20.537169+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1435","user_name":"Kristin Rigbye","item_type":"entity","text":"reviewed gene: WDR81: Rating: GREEN; Mode of pathogenicity: None; Publications: 21885617, 28556411; Phenotypes: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185, Hydrocephalus, congenital, 3, with brain anomalies, 617967; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"WDR81","entity_type":"gene"},{"created":"2020-02-24T13:57:19.620659+11:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.313","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: OTOF: Rating: GREEN; Mode of pathogenicity: None; Publications: 16371502, 22906306; Phenotypes: Auditory neuropathy, autosomal recessive, 1 (MIM # 601071), Deafness, autosomal recessive 9 (MIM # 601071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"OTOF","entity_type":"gene"},{"created":"2020-02-24T13:31:55.822308+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.17","user_name":"Kristin Rigbye","item_type":"entity","text":"reviewed gene: CITED2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16287139; Phenotypes: Atrial septal defect 8, 614433, Ventricular septal defect 2, 614431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CITED2","entity_type":"gene"},{"created":"2020-02-23T08:40:50.873644+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1435","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBCE as ready","entity_name":"TBCE","entity_type":"gene"},{"created":"2020-02-23T08:40:50.865118+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1435","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbce has been classified as Green List (High Evidence).","entity_name":"TBCE","entity_type":"gene"},{"created":"2020-02-23T08:40:39.164236+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1435","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TBCE were changed from  to Encephalopathy, progressive, with amyotrophy and optic atrophy; Hypoparathyroidism-retardation-dysmorphism syndrome; Kenny-Caffey syndrome, type 1","entity_name":"TBCE","entity_type":"gene"},{"created":"2020-02-23T08:40:17.213704+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1434","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TBCE were set to ","entity_name":"TBCE","entity_type":"gene"},{"created":"2020-02-23T08:39:49.390962+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1433","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TBCE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TBCE","entity_type":"gene"},{"created":"2020-02-23T08:38:53.930047+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1432","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HTRA1 as ready","entity_name":"HTRA1","entity_type":"gene"},{"created":"2020-02-23T08:38:53.916845+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1432","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: htra1 has been classified as Green List (High Evidence).","entity_name":"HTRA1","entity_type":"gene"},{"created":"2020-02-23T08:38:43.197064+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1432","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HTRA1 were changed from  to {Macular degeneration, age-related, 7}, 6101493; {Macular degeneration, age-related, neovascular type}, 610149; CARASIL syndrome, 600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779","entity_name":"HTRA1","entity_type":"gene"},{"created":"2020-02-23T08:38:16.754412+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1431","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HTRA1 were set to ","entity_name":"HTRA1","entity_type":"gene"},{"created":"2020-02-23T08:38:02.540866+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1430","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: HTRA1 was changed from  to Other","entity_name":"HTRA1","entity_type":"gene"},{"created":"2020-02-23T08:37:47.140307+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1429","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HTRA1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"HTRA1","entity_type":"gene"},{"created":"2020-02-22T18:40:08.887259+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TNNI3 as ready","entity_name":"TNNI3","entity_type":"gene"},{"created":"2020-02-22T18:40:08.873951+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tnni3 has been classified as Green List (High Evidence).","entity_name":"TNNI3","entity_type":"gene"},{"created":"2020-02-22T18:40:04.251415+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TNNI3 were changed from  to ?Cardiomyopathy, dilated, 2A 611880; Cardiomyopathy, dilated, 1FF 613286; Cardiomyopathy, familial restrictive, 1115210; Cardiomyopathy, hypertrophic, 761369","entity_name":"TNNI3","entity_type":"gene"},{"created":"2020-02-22T18:39:42.316853+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TNNI3 were set to ","entity_name":"TNNI3","entity_type":"gene"},{"created":"2020-02-22T18:39:20.566718+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: TNNI3 was changed from  to Other","entity_name":"TNNI3","entity_type":"gene"},{"created":"2020-02-22T18:38:54.858938+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TNNI3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TNNI3","entity_type":"gene"},{"created":"2020-02-22T18:37:53.733426+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1428","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLPBP as ready","entity_name":"PLPBP","entity_type":"gene"},{"created":"2020-02-22T18:37:53.720581+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1428","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plpbp has been classified as Green List (High Evidence).","entity_name":"PLPBP","entity_type":"gene"},{"created":"2020-02-22T18:37:27.398552+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1428","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLPBP were changed from  to Epilepsy, early-onset, vitamin B6-dependent, 617290","entity_name":"PLPBP","entity_type":"gene"},{"created":"2020-02-22T18:37:12.371442+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1427","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PLPBP were set to ","entity_name":"PLPBP","entity_type":"gene"},{"created":"2020-02-22T18:36:52.124852+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1426","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PLPBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLPBP","entity_type":"gene"},{"created":"2020-02-22T18:36:13.767148+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1425","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTPN11 as ready","entity_name":"PTPN11","entity_type":"gene"},{"created":"2020-02-22T18:36:13.758481+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1425","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptpn11 has been classified as Green List (High Evidence).","entity_name":"PTPN11","entity_type":"gene"},{"created":"2020-02-22T18:35:54.048949+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1425","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTPN11 were changed from  to LEOPARD syndrome 1 (MIM#151100); Noonan syndrome 1 (MIM#163950); Metachondromatosis (MIM#156250)","entity_name":"PTPN11","entity_type":"gene"},{"created":"2020-02-22T18:35:32.994142+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1424","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PTPN11 were set to ","entity_name":"PTPN11","entity_type":"gene"},{"created":"2020-02-22T18:35:25.181810+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1423","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: PTPN11 was changed from  to Other","entity_name":"PTPN11","entity_type":"gene"},{"created":"2020-02-22T18:35:07.797402+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1422","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PTPN11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PTPN11","entity_type":"gene"},{"created":"2020-02-22T18:14:42.383737+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1421","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SYNE1 as ready","entity_name":"SYNE1","entity_type":"gene"},{"created":"2020-02-22T18:14:42.369882+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1421","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: syne1 has been classified as Green List (High Evidence).","entity_name":"SYNE1","entity_type":"gene"},{"created":"2020-02-22T18:14:30.881654+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1421","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SYNE1 were changed from  to Arthrogryposis multiplex congenita, myogenic type, MIM# 618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant, MIM# 612998; Spinocerebellar ataxia, autosomal recessive 8, MIM# 610743","entity_name":"SYNE1","entity_type":"gene"},{"created":"2020-02-22T18:13:33.398122+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1420","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SYNE1 were set to ","entity_name":"SYNE1","entity_type":"gene"},{"created":"2020-02-22T18:13:16.099504+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1419","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SYNE1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SYNE1","entity_type":"gene"},{"created":"2020-02-22T18:12:52.490794+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1418","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SYNE1: Added comment: Well established gene-disease association with Emery-Dreifuss muscular dystrophy (AD), and with recessive ataxia.\r\nDistal arthrogryposis: three families reported with bi-allelic distal truncating variants in the KASH domain. This appears to be a specific genotype-phenotype correlation.; Changed rating: GREEN; Changed publications: 23352163, 27782104; Changed phenotypes: Arthrogryposis multiplex congenita, myogenic type, MIM# 618484, Emery-Dreifuss muscular dystrophy 4, autosomal dominant, MIM# 612998, Spinocerebellar ataxia, autosomal recessive 8, MIM# 610743; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SYNE1","entity_type":"gene"},{"created":"2020-02-22T07:48:26.988458+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PNPT1 were changed from Combined oxidative phosphorylation deficiency 13 (MIM#614932) to Combined oxidative phosphorylation deficiency 13 (MIM#614932)","entity_name":"PNPT1","entity_type":"gene"},{"created":"2020-02-22T07:48:13.030541+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PNPT1 as ready","entity_name":"PNPT1","entity_type":"gene"},{"created":"2020-02-22T07:48:13.020274+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pnpt1 has been classified as Green List (High Evidence).","entity_name":"PNPT1","entity_type":"gene"},{"created":"2020-02-22T07:48:07.520469+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PNPT1 were changed from Combined oxidative phosphorylation deficiency 13 (MIM#614932) to Combined oxidative phosphorylation deficiency 13 (MIM#614932)","entity_name":"PNPT1","entity_type":"gene"},{"created":"2020-02-22T07:47:47.156713+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PNPT1 were changed from  to Combined oxidative phosphorylation deficiency 13 (MIM#614932)","entity_name":"PNPT1","entity_type":"gene"},{"created":"2020-02-22T07:47:22.953085+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PNPT1 were set to ","entity_name":"PNPT1","entity_type":"gene"},{"created":"2020-02-22T07:46:59.499507+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PNPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PNPT1","entity_type":"gene"},{"created":"2020-02-22T07:46:30.811419+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31752325; Phenotypes: Combined oxidative phosphorylation deficiency 13 (MIM#614932); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PNPT1","entity_type":"gene"},{"created":"2020-02-22T07:41:47.081308+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1418","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PNPT1 as ready","entity_name":"PNPT1","entity_type":"gene"},{"created":"2020-02-22T07:41:47.077113+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1418","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Those initially presenting with deafness may be at risk of progressive complex neurological course.","entity_name":"PNPT1","entity_type":"gene"},{"created":"2020-02-22T07:41:47.047380+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1418","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pnpt1 has been classified as Green List (High Evidence).","entity_name":"PNPT1","entity_type":"gene"},{"created":"2020-02-22T07:33:17.213932+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PNPT1 as ready","entity_name":"PNPT1","entity_type":"gene"},{"created":"2020-02-22T07:33:17.200308+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pnpt1 has been classified as Green List (High Evidence).","entity_name":"PNPT1","entity_type":"gene"},{"created":"2020-02-22T07:33:12.282424+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PNPT1 were changed from  to Combined oxidative phosphorylation deficiency 13 (MIM#614932); Deafness, autosomal recessive 70 (MIM#614934)","entity_name":"PNPT1","entity_type":"gene"},{"created":"2020-02-22T07:32:42.963012+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PNPT1 were set to ","entity_name":"PNPT1","entity_type":"gene"},{"created":"2020-02-22T07:32:19.380849+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PNPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PNPT1","entity_type":"gene"},{"created":"2020-02-22T07:29:56.693855+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1418","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PNPT1 as ready","entity_name":"PNPT1","entity_type":"gene"},{"created":"2020-02-22T07:29:56.681232+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1418","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pnpt1 has been classified as Green List (High Evidence).","entity_name":"PNPT1","entity_type":"gene"},{"created":"2020-02-22T07:29:46.755344+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1418","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PNPT1 were changed from  to Combined oxidative phosphorylation deficiency 13 (MIM#614932); Deafness, autosomal recessive 70 (MIM#614934)","entity_name":"PNPT1","entity_type":"gene"},{"created":"2020-02-22T07:29:24.701062+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1417","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PNPT1 were set to ","entity_name":"PNPT1","entity_type":"gene"},{"created":"2020-02-22T07:28:41.357058+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1416","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PNPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PNPT1","entity_type":"gene"},{"created":"2020-02-21T15:46:01.779533+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1415","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: TBCE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27666369; Phenotypes: Encephalopathy, progressive, with amyotrophy and optic atrophy, Hypoparathyroidism-retardation-dysmorphism syndrome, Kenny-Caffey syndrome, type 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TBCE","entity_type":"gene"},{"created":"2020-02-21T15:38:29.687532+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1415","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: HTRA1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 29895533, 19387015; Phenotypes: {Macular degeneration, age-related, 7}, 6101493, {Macular degeneration, age-related, neovascular type}, 610149, CARASIL syndrome, 600142, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"HTRA1","entity_type":"gene"},{"created":"2020-02-21T15:07:13.640162+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.7","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 15607392; Phenotypes: ?Cardiomyopathy, dilated, 2A 611880, Cardiomyopathy, dilated, 1FF 613286, Cardiomyopathy, familial restrictive, 1115210, Cardiomyopathy, hypertrophic, 761369; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TNNI3","entity_type":"gene"},{"created":"2020-02-21T14:28:52.336515+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1415","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29689137, 27912044; Phenotypes: Epilepsy, early-onset, vitamin B6-dependent, 617290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"PLPBP","entity_type":"gene"},{"created":"2020-02-21T13:31:19.113599+11:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"0.28","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital","entity_name":null,"entity_type":null},{"created":"2020-02-21T10:47:57.760271+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1415","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 24935154, 11704759, 21533187; Phenotypes: LEOPARD syndrome 1 (MIM#151100), Noonan syndrome 1 (MIM#163950), Metachondromatosis (MIM#156250); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PTPN11","entity_type":"gene"},{"created":"2020-02-21T10:08:16.326990+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1415","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: SYNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30573412; Phenotypes: Spinocerebellar ataxia, autosomal recessive 8 (MIM#610743); Mode of inheritance: None","entity_name":"SYNE1","entity_type":"gene"},{"created":"2020-02-21T08:58:52.327622+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.85","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:31752325, PMID: 28645153; Phenotypes: Combined oxidative phosphorylation deficiency 13 (MIM#614932), Deafness, autosomal recessive 70 (MIM#614934); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PNPT1","entity_type":"gene"},{"created":"2020-02-21T08:56:15.124676+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1415","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:31752325, PMID: 30244537, PMID: 28594066, PMID: 28645153; Phenotypes: Combined oxidative phosphorylation deficiency 13 (MIM#614932), Deafness, autosomal recessive 70 (MIM#614934); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PNPT1","entity_type":"gene"},{"created":"2020-02-20T10:30:33.644458+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1415","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MPP3 as ready","entity_name":"MPP3","entity_type":"gene"},{"created":"2020-02-20T10:30:33.636184+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1415","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mpp3 has been classified as Red List (Low Evidence).","entity_name":"MPP3","entity_type":"gene"},{"created":"2020-02-20T10:30:24.367942+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1415","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MPP3 as Red List (low evidence)","entity_name":"MPP3","entity_type":"gene"},{"created":"2020-02-20T10:30:24.359555+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1415","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mpp3 has been classified as Red List (Low Evidence).","entity_name":"MPP3","entity_type":"gene"},{"created":"2020-02-20T10:30:07.140091+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1414","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MPP3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"MPP3","entity_type":"gene"},{"created":"2020-02-20T10:24:46.077093+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1414","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GLRX as ready","entity_name":"GLRX","entity_type":"gene"},{"created":"2020-02-20T10:24:46.067941+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1414","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: glrx has been classified as Red List (Low Evidence).","entity_name":"GLRX","entity_type":"gene"},{"created":"2020-02-20T10:24:33.288358+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1414","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GLRX as Red List (low evidence)","entity_name":"GLRX","entity_type":"gene"},{"created":"2020-02-20T10:24:33.275646+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1414","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: glrx has been classified as Red List (Low Evidence).","entity_name":"GLRX","entity_type":"gene"},{"created":"2020-02-20T10:24:16.126821+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1413","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GLRX: Rating: RED; Mode of pathogenicity: None; Publications: 27958883; Phenotypes: ; Mode of inheritance: None","entity_name":"GLRX","entity_type":"gene"},{"created":"2020-02-20T10:02:34.617819+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1413","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GC as ready","entity_name":"GC","entity_type":"gene"},{"created":"2020-02-20T10:02:34.609201+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1413","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gc has been classified as Red List (Low Evidence).","entity_name":"GC","entity_type":"gene"},{"created":"2020-02-20T10:02:25.193903+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1413","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GC as Red List (low evidence)","entity_name":"GC","entity_type":"gene"},{"created":"2020-02-20T10:02:25.185392+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1413","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gc has been classified as Red List (Low Evidence).","entity_name":"GC","entity_type":"gene"},{"created":"2020-02-20T10:01:57.560519+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1412","user_name":"Natalie Tan","item_type":"entity","text":"reviewed gene: GC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"GC","entity_type":"gene"},{"created":"2020-02-20T09:58:50.083117+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1412","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AANAT as ready","entity_name":"AANAT","entity_type":"gene"},{"created":"2020-02-20T09:58:50.070033+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1412","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aanat has been classified as Red List (Low Evidence).","entity_name":"AANAT","entity_type":"gene"},{"created":"2020-02-20T09:58:41.364245+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1412","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AANAT were changed from  to Delayed sleep phase, susceptibility to","entity_name":"AANAT","entity_type":"gene"},{"created":"2020-02-20T09:58:05.830036+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1411","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AANAT were set to ","entity_name":"AANAT","entity_type":"gene"},{"created":"2020-02-20T09:57:42.344735+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1410","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AANAT was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AANAT","entity_type":"gene"},{"created":"2020-02-20T09:57:24.053920+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1409","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AANAT as Red List (low evidence)","entity_name":"AANAT","entity_type":"gene"},{"created":"2020-02-20T09:57:24.044956+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1409","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aanat has been classified as Red List (Low Evidence).","entity_name":"AANAT","entity_type":"gene"},{"created":"2020-02-20T09:56:49.992081+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1408","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AANAT: Rating: RED; Mode of pathogenicity: None; Publications: 12736803; Phenotypes: Delayed sleep phase, susceptibility to; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AANAT","entity_type":"gene"},{"created":"2020-02-20T09:43:56.899923+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1408","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: DUX4.","entity_name":"DUX4","entity_type":"gene"},{"created":"2020-02-20T09:43:33.411400+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1408","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DUX4 as ready","entity_name":"DUX4","entity_type":"gene"},{"created":"2020-02-20T09:43:33.402752+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1408","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dux4 has been classified as Red List (Low Evidence).","entity_name":"DUX4","entity_type":"gene"},{"created":"2020-02-20T09:43:20.304158+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1408","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DUX4 were changed from  to Fascioscapulohumeral muscular dystrophy, MIM#158900","entity_name":"DUX4","entity_type":"gene"},{"created":"2020-02-20T09:42:55.187593+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1407","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DUX4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DUX4","entity_type":"gene"},{"created":"2020-02-20T09:42:35.684352+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1406","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DUX4 as Red List (low evidence)","entity_name":"DUX4","entity_type":"gene"},{"created":"2020-02-20T09:42:35.675479+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1406","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dux4 has been classified as Red List (Low Evidence).","entity_name":"DUX4","entity_type":"gene"}]}