{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1664","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1662","results":[{"created":"2020-08-22T12:07:26.342656+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nek1 has been classified as Red List (Low Evidence).","entity_name":"NEK1","entity_type":"gene"},{"created":"2020-08-22T12:07:18.927627+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NEK1: Changed rating: RED; Changed phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520","entity_name":"NEK1","entity_type":"gene"},{"created":"2020-08-22T12:07:10.365948+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NEK1 was added\ngene: NEK1 was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NEK1 were set to 7491205; 15605271\nPhenotypes for gene: NEK1 were set to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM#\t263520\nReview for gene: NEK1 was set to AMBER\nAdded comment: Hydrops reported but not in molecularly confirmed cases. \nSources: Expert list","entity_name":"NEK1","entity_type":"gene"},{"created":"2020-08-22T12:04:07.653768+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DYNC2H1 as ready","entity_name":"DYNC2H1","entity_type":"gene"},{"created":"2020-08-22T12:04:07.645243+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dync2h1 has been classified as Amber List (Moderate Evidence).","entity_name":"DYNC2H1","entity_type":"gene"},{"created":"2020-08-22T12:04:03.526664+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DYNC2H1 as Amber List (moderate evidence)","entity_name":"DYNC2H1","entity_type":"gene"},{"created":"2020-08-22T12:04:03.518069+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dync2h1 has been classified as Amber List (Moderate Evidence).","entity_name":"DYNC2H1","entity_type":"gene"},{"created":"2020-08-22T12:01:59.136958+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DYNC2H1 was added\ngene: DYNC2H1 was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DYNC2H1 were set to 27925158\nPhenotypes for gene: DYNC2H1 were set to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM#\t613091\nReview for gene: DYNC2H1 was set to AMBER\nAdded comment: Two families reported with severe antenatal presentation including chylothorax, ascites, oedema. \nSources: Expert list","entity_name":"DYNC2H1","entity_type":"gene"},{"created":"2020-08-21T18:51:05.722399+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFT122 as ready","entity_name":"IFT122","entity_type":"gene"},{"created":"2020-08-21T18:51:05.711431+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ift122 has been classified as Red List (Low Evidence).","entity_name":"IFT122","entity_type":"gene"},{"created":"2020-08-21T18:50:47.175865+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IFT122 was added\ngene: IFT122 was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFT122 were set to 28370949\nPhenotypes for gene: IFT122 were set to Beemer-Langer syndrome\nReview for gene: IFT122 was set to RED\nAdded comment: Single case report of a presentation consistent with the severe ciliopathy Beemer-Langer syndrome, and mild generalised oedema identified antenatally. \nSources: Expert list","entity_name":"IFT122","entity_type":"gene"},{"created":"2020-08-21T18:15:47.139999+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Hydrops is a listed feature in reviews of this condition, but cannot find specific case reports. \nSources: Expert list; to: Hydrops is a listed feature in reviews of this condition. Two cases reported in PMID 12533808, but only a single variant identified so diagnosis not molecularly confirmed.\r\nSources: Expert list","entity_name":"UROS","entity_type":"gene"},{"created":"2020-08-21T18:15:08.064542+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: UROS: Changed publications: 24027798, 12533808; Changed phenotypes: Porphyria, congenital erythropoietic, MIM# 263700","entity_name":"UROS","entity_type":"gene"},{"created":"2020-08-21T18:09:21.823392+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ITGA9 as ready","entity_name":"ITGA9","entity_type":"gene"},{"created":"2020-08-21T18:09:21.814156+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itga9 has been classified as Red List (Low Evidence).","entity_name":"ITGA9","entity_type":"gene"},{"created":"2020-08-21T18:09:17.884188+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: ITGA9.","entity_name":"ITGA9","entity_type":"gene"},{"created":"2020-08-21T18:09:03.858727+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ITGA9 was added\ngene: ITGA9 was added to Hydrops fetalis. Sources: Expert list\nMode of inheritance for gene: ITGA9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ITGA9 were set to 21584887\nPhenotypes for gene: ITGA9 were set to Chylothorax\nReview for gene: ITGA9 was set to RED\nAdded comment: The p.Gly404Ser variant reported in PMID 21584887 in association with chylothorax in multiple fetuses is present in 672 hets and 11 homs in gnomad, which is out of keeping for a rare Mendelian disorder. \nSources: Expert list","entity_name":"ITGA9","entity_type":"gene"},{"created":"2020-08-21T17:08:32.478171+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3866","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AFG3L2 as ready","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2020-08-21T17:08:32.470292+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3866","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: afg3l2 has been classified as Green List (High Evidence).","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2020-08-21T17:08:25.486774+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3866","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AFG3L2 were changed from  to Spastic ataxia 5, autosomal recessive (MIM#614487); Spinocerebellar ataxia 28 (MIM#610246); Optic atrophy 12, MIM# 618977","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2020-08-21T17:08:02.357922+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3865","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AFG3L2 were set to ","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2020-08-21T17:07:39.301383+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3864","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AFG3L2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2020-08-21T17:07:22.498054+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3863","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29181157, 26539208, 30252181, 30389403, 32219868, 32600459, 32548275; Phenotypes: Spastic ataxia 5, autosomal recessive (MIM#614487), Spinocerebellar ataxia 28 (MIM#610246), Optic atrophy 12, MIM# 618977; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2020-08-21T17:04:16.962924+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AFG3L2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2020-08-21T17:03:22.589793+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AFG3L2 were changed from Autosomal dominant optic atrophy; Spastic ataxia 5, autosomal recessive (MIM#614487); Spinocerebellar ataxia 28 (MIM#610246) to Optic atrophy 12, MIM#\t618977","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2020-08-21T17:02:32.851499+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: AFG3L2: Changed rating: GREEN; Changed phenotypes: Optic atrophy 12, MIM# 618977; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2020-08-21T16:52:46.147881+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3863","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYOD1 as ready","entity_name":"MYOD1","entity_type":"gene"},{"created":"2020-08-21T16:52:46.139290+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3863","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myod1 has been classified as Green List (High Evidence).","entity_name":"MYOD1","entity_type":"gene"},{"created":"2020-08-21T16:52:38.255443+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3863","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYOD1 as Green List (high evidence)","entity_name":"MYOD1","entity_type":"gene"},{"created":"2020-08-21T16:52:38.245234+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3863","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myod1 has been classified as Green List (High Evidence).","entity_name":"MYOD1","entity_type":"gene"},{"created":"2020-08-21T16:52:22.558003+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3862","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYOD1 was added\ngene: MYOD1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: MYOD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYOD1 were set to 26733463; 30403323; 31260566\nPhenotypes for gene: MYOD1 were set to Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, MIM#\t618975\nReview for gene: MYOD1 was set to GREEN\nAdded comment: Three unrelated families reported. \nSources: Expert list","entity_name":"MYOD1","entity_type":"gene"},{"created":"2020-08-21T10:59:31.458624+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.460","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MT-RNR2 as ready","entity_name":"MT-RNR2","entity_type":"gene"},{"created":"2020-08-21T10:59:31.448291+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.460","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mt-rnr2 has been classified as Red List (Low Evidence).","entity_name":"MT-RNR2","entity_type":"gene"},{"created":"2020-08-21T10:59:26.825095+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.460","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MT-RNR2 as Red List (low evidence)","entity_name":"MT-RNR2","entity_type":"gene"},{"created":"2020-08-21T10:59:26.817018+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.460","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mt-rnr2 has been classified as Red List (Low Evidence).","entity_name":"MT-RNR2","entity_type":"gene"},{"created":"2020-08-21T10:19:43.757187+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.459","user_name":"Chern Lim","item_type":"entity","text":"gene: MT-RNR2 was added\ngene: MT-RNR2 was added to Mitochondrial disease. Sources: Expert Review,Literature\nMode of inheritance for gene gene: MT-RNR2 was set to MITOCHONDRIAL\nPublications for gene: MT-RNR2 were set to 29233888\nReview for gene: MT-RNR2 was set to RED\nAdded comment: Disease association not established (PMID:29233888 and in-house expert review). \nSources: Expert Review, Literature","entity_name":"MT-RNR2","entity_type":"gene"},{"created":"2020-08-21T09:48:14.802825+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2849","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM237 as ready","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:48:14.789349+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2849","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem237 has been classified as Green List (High Evidence).","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:48:11.551251+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2849","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM237 were changed from  to Joubert syndrome 14, MIM# 614424","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:47:38.836433+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2848","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMEM237 were set to ","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:47:10.493459+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2847","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMEM237 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:46:44.110679+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2846","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TMEM237: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152675; Phenotypes: Joubert syndrome 14, MIM# 614424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:45:18.115948+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM237 as ready","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:45:18.099935+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem237 has been classified as Red List (Low Evidence).","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:45:13.487469+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM237 were changed from  to Joubert syndrome 14, MIM# 614424","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:44:52.782316+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMEM237 were set to ","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:44:29.524009+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMEM237 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:44:04.169195+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMEM237 as Red List (low evidence)","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:44:04.159258+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem237 has been classified as Red List (Low Evidence).","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:43:37.750155+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TMEM237: Rating: RED; Mode of pathogenicity: None; Publications: 22152675; Phenotypes: Joubert syndrome 14, MIM# 614424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:43:01.703873+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM237 as ready","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:43:01.662896+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem237 has been classified as Green List (High Evidence).","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:42:58.632116+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM237 were changed from  to Joubert syndrome 14, MIM# 614424","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:42:36.085849+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMEM237 were set to ","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:42:12.128890+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMEM237 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:41:43.464710+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TMEM237: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152675; Phenotypes: Joubert syndrome 14, MIM# 614424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:39:37.463074+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM237 as ready","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:39:37.452202+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem237 has been classified as Green List (High Evidence).","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:39:34.821505+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM237 were changed from  to Joubert syndrome 14, MIM# 614424","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:39:09.336030+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMEM237 were set to ","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:38:40.278482+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TMEM237: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152675; Phenotypes: Joubert syndrome 14, MIM# 614424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:37:33.471040+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3861","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM237 as ready","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:37:33.462551+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3861","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem237 has been classified as Green List (High Evidence).","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:37:26.721539+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3861","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM237 were changed from  to Joubert syndrome 14, MIM# 614424","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:37:07.252162+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3860","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMEM237 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:36:50.323029+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3859","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Ataxia is part of the phenotype.; to: Well established gene-disease association.","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:36:11.546129+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM237 as ready","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:36:11.527979+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem237 has been classified as Green List (High Evidence).","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:36:09.231396+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM237 were changed from  to Joubert syndrome 14, MIM# 614424","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:35:47.331084+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMEM237 were set to ","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:35:22.422021+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.203","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMEM237 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:34:58.247612+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TMEM237: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152675; Phenotypes: Joubert syndrome 14, MIM# 614424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:34:10.184281+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM237 as ready","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:34:10.173950+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem237 has been classified as Green List (High Evidence).","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:34:07.981880+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM237 were changed from  to Joubert syndrome 14, MIM# 614424","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:33:46.395799+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMEM237 were set to ","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:33:25.197534+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMEM237 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:32:58.481825+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TMEM237: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152675; Phenotypes: Joubert syndrome 14, MIM# 614424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-08-21T09:30:47.532284+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NOD2 as ready","entity_name":"NOD2","entity_type":"gene"},{"created":"2020-08-21T09:30:47.522076+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nod2 has been classified as Green List (High Evidence).","entity_name":"NOD2","entity_type":"gene"},{"created":"2020-08-21T09:30:45.413993+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NOD2 as Green List (high evidence)","entity_name":"NOD2","entity_type":"gene"},{"created":"2020-08-21T09:30:45.403998+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nod2 has been classified as Green List (High Evidence).","entity_name":"NOD2","entity_type":"gene"},{"created":"2020-08-21T09:30:17.615079+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NOD2 was added\ngene: NOD2 was added to Inflammatory bowel disease. Sources: Expert Review\nMode of inheritance for gene: NOD2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: NOD2 were set to 11385576; 17804789\nPhenotypes for gene: NOD2 were set to {Inflammatory bowel disease 1, Crohn disease}\t266600; {Yao syndrome}\t617321\nReview for gene: NOD2 was set to GREEN\nAdded comment: Variants in NOD2 (particularly bi-allelic ones) are associated with increased risk of Crohn's disease. \nSources: Expert Review","entity_name":"NOD2","entity_type":"gene"},{"created":"2020-08-21T09:24:42.534011+10:00","panel_name":"Chronic granulomatous disease","panel_id":3159,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NOD2 as ready","entity_name":"NOD2","entity_type":"gene"},{"created":"2020-08-21T09:24:42.522103+10:00","panel_name":"Chronic granulomatous disease","panel_id":3159,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nod2 has been classified as Green List (High Evidence).","entity_name":"NOD2","entity_type":"gene"},{"created":"2020-08-21T09:24:39.154878+10:00","panel_name":"Chronic granulomatous disease","panel_id":3159,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NOD2 were changed from Blau syndrome MIM#186580 to Blau syndrome MIM#186580; granulomatous disease","entity_name":"NOD2","entity_type":"gene"},{"created":"2020-08-21T09:24:26.930821+10:00","panel_name":"Chronic granulomatous disease","panel_id":3159,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NOD2 were set to ","entity_name":"NOD2","entity_type":"gene"},{"created":"2020-08-21T09:24:13.862588+10:00","panel_name":"Chronic granulomatous disease","panel_id":3159,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NOD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26164256; Phenotypes: Blau syndrome syndrome, MIM# 186580, granulomatous disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NOD2","entity_type":"gene"},{"created":"2020-08-21T09:19:16.220791+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NOD2 as ready","entity_name":"NOD2","entity_type":"gene"},{"created":"2020-08-21T09:19:16.209771+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nod2 has been classified as Green List (High Evidence).","entity_name":"NOD2","entity_type":"gene"},{"created":"2020-08-21T09:19:10.950164+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NOD2 were changed from  to Blau syndrome, MIM# 186580","entity_name":"NOD2","entity_type":"gene"},{"created":"2020-08-21T09:18:48.655972+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NOD2 were set to ","entity_name":"NOD2","entity_type":"gene"},{"created":"2020-08-21T09:18:24.766358+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NOD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NOD2","entity_type":"gene"},{"created":"2020-08-21T09:17:56.614176+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NOD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15459013; Phenotypes: Blau syndrome, MIM# 186580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NOD2","entity_type":"gene"},{"created":"2020-08-21T09:10:46.107407+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3859","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NOD2 as ready","entity_name":"NOD2","entity_type":"gene"},{"created":"2020-08-21T09:10:46.099062+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3859","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nod2 has been classified as Green List (High Evidence).","entity_name":"NOD2","entity_type":"gene"},{"created":"2020-08-21T09:10:38.781620+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3859","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NOD2 were changed from  to Blau syndrome, MIM# 186580","entity_name":"NOD2","entity_type":"gene"},{"created":"2020-08-21T09:10:18.140227+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3858","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NOD2 were set to ","entity_name":"NOD2","entity_type":"gene"},{"created":"2020-08-21T09:09:39.144923+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3857","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NOD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NOD2","entity_type":"gene"},{"created":"2020-08-21T09:09:20.853773+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3856","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NOD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15459013; Phenotypes: Blau syndrome, MIM# 186580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NOD2","entity_type":"gene"}]}