{"count":220324,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1325","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1323","results":[{"created":"2021-05-11T21:04:02.414266+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7592","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KDR were set to ","entity_name":"KDR","entity_type":"gene"},{"created":"2021-05-11T21:03:44.202089+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7591","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KDR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KDR","entity_type":"gene"},{"created":"2021-05-11T21:03:28.155608+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7590","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KDR: Rating: GREEN; Mode of pathogenicity: None; Publications: 31980491, 29650961, 18931684; Phenotypes: Pulmonary hypertension, Haemangioma, capillary infantile, somatic 602089; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KDR","entity_type":"gene"},{"created":"2021-05-11T21:01:05.069300+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KDR were set to 31980491","entity_name":"KDR","entity_type":"gene"},{"created":"2021-05-11T21:00:52.714729+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KDR as Green List (high evidence)","entity_name":"KDR","entity_type":"gene"},{"created":"2021-05-11T21:00:52.704181+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kdr has been classified as Green List (High Evidence).","entity_name":"KDR","entity_type":"gene"},{"created":"2021-05-11T21:00:44.028692+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KDR: Changed rating: GREEN","entity_name":"KDR","entity_type":"gene"},{"created":"2021-05-11T21:00:38.282966+10:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KDR: Added comment: Additional case-control and functional data, rated as STRONG by ClinGen.; Changed publications: 31980491, 29650961","entity_name":"KDR","entity_type":"gene"},{"created":"2021-05-11T20:56:13.132919+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7590","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRIM2 as ready","entity_name":"TRIM2","entity_type":"gene"},{"created":"2021-05-11T20:56:13.117182+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7590","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trim2 has been classified as Green List (High Evidence).","entity_name":"TRIM2","entity_type":"gene"},{"created":"2021-05-11T20:56:04.705920+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7590","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRIM2 were changed from  to Charcot-Marie-Tooth disease, type 2R, MIM# 615490; MONDO:0014208","entity_name":"TRIM2","entity_type":"gene"},{"created":"2021-05-11T20:55:46.911866+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7589","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRIM2 were set to ","entity_name":"TRIM2","entity_type":"gene"},{"created":"2021-05-11T20:55:25.886965+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7588","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TRIM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRIM2","entity_type":"gene"},{"created":"2021-05-11T20:55:03.846806+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7587","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TRIM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23562820, 25893792, 18687884, 32815244, 32205255, 25893792; Phenotypes: Charcot-Marie-Tooth disease, type 2R, MIM# 615490, MONDO:0014208; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRIM2","entity_type":"gene"},{"created":"2021-05-11T16:27:51.476004+10:00","panel_name":"Pain syndromes","panel_id":3126,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAB7A as ready","entity_name":"RAB7A","entity_type":"gene"},{"created":"2021-05-11T16:27:51.464663+10:00","panel_name":"Pain syndromes","panel_id":3126,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rab7a has been classified as Green List (High Evidence).","entity_name":"RAB7A","entity_type":"gene"},{"created":"2021-05-11T16:27:49.242116+10:00","panel_name":"Pain syndromes","panel_id":3126,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB7A were changed from HSAN1/2B; Hereditary motor and sensory neuropathy IIB; Charcot-Marie-Tooth disease, type 2B, 600882 to Charcot-Marie-Tooth disease, type 2B, MIM# 600882; MONDO:0010949","entity_name":"RAB7A","entity_type":"gene"},{"created":"2021-05-11T16:27:34.840169+10:00","panel_name":"Pain syndromes","panel_id":3126,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RAB7A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAB7A","entity_type":"gene"},{"created":"2021-05-11T16:27:23.736365+10:00","panel_name":"Pain syndromes","panel_id":3126,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RAB7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 12545426, 17060578, 32326241, 29130394, 25614874; Phenotypes: Charcot-Marie-Tooth disease, type 2B, MIM# 600882, MONDO:0010949; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAB7A","entity_type":"gene"},{"created":"2021-05-11T16:26:36.370708+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7587","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAB7A as ready","entity_name":"RAB7A","entity_type":"gene"},{"created":"2021-05-11T16:26:36.361083+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7587","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rab7a has been classified as Green List (High Evidence).","entity_name":"RAB7A","entity_type":"gene"},{"created":"2021-05-11T16:26:29.515996+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7587","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB7A were changed from  to Charcot-Marie-Tooth disease, type 2B, MIM# 600882; MONDO:0010949","entity_name":"RAB7A","entity_type":"gene"},{"created":"2021-05-11T16:26:10.098786+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7586","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAB7A were set to ","entity_name":"RAB7A","entity_type":"gene"},{"created":"2021-05-11T16:25:47.364245+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7585","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RAB7A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAB7A","entity_type":"gene"},{"created":"2021-05-11T16:25:29.954926+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7584","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RAB7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 12545426, 17060578, 32326241, 29130394, 25614874; Phenotypes: Charcot-Marie-Tooth disease, type 2B, MIM# 600882, MONDO:0010949; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAB7A","entity_type":"gene"},{"created":"2021-05-11T15:37:01.969980+10:00","panel_name":"Autonomic neuropathy","panel_id":3439,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRDM12 were changed from OMIM# 616488 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII; HSAN8 to Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488; MONDO:0014662","entity_name":"PRDM12","entity_type":"gene"},{"created":"2021-05-11T15:36:50.441201+10:00","panel_name":"Autonomic neuropathy","panel_id":3439,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRDM12 were set to ","entity_name":"PRDM12","entity_type":"gene"},{"created":"2021-05-11T15:36:36.883219+10:00","panel_name":"Autonomic neuropathy","panel_id":3439,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PRDM12: Rating: GREEN; Mode of pathogenicity: None; Publications: 26005867, 33789102, 33010785, 32828702; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488, MONDO:0014662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRDM12","entity_type":"gene"},{"created":"2021-05-11T15:35:46.586007+10:00","panel_name":"Pain syndromes","panel_id":3126,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRDM12 as ready","entity_name":"PRDM12","entity_type":"gene"},{"created":"2021-05-11T15:35:46.575402+10:00","panel_name":"Pain syndromes","panel_id":3126,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prdm12 has been classified as Green List (High Evidence).","entity_name":"PRDM12","entity_type":"gene"},{"created":"2021-05-11T15:35:44.040190+10:00","panel_name":"Pain syndromes","panel_id":3126,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRDM12 were changed from insensitivity to pain; Neuropathy, hereditary sensory and autonomic, type VIII, 616488; HSAN VIII; HSAN 8; Hereditary sensory and autonomic neuropathy type VIII to insensitivity to pain; Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488; MONDO:0014662","entity_name":"PRDM12","entity_type":"gene"},{"created":"2021-05-11T15:35:29.946189+10:00","panel_name":"Pain syndromes","panel_id":3126,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRDM12 were set to 26975306; 25891934; 26005867","entity_name":"PRDM12","entity_type":"gene"},{"created":"2021-05-11T15:35:10.610525+10:00","panel_name":"Pain syndromes","panel_id":3126,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PRDM12: Rating: GREEN; Mode of pathogenicity: None; Publications: 26005867, 33789102, 33010785, 32828702; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488, MONDO:0014662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRDM12","entity_type":"gene"},{"created":"2021-05-11T15:34:21.441779+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7584","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRDM12 as ready","entity_name":"PRDM12","entity_type":"gene"},{"created":"2021-05-11T15:34:21.431087+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7584","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prdm12 has been classified as Green List (High Evidence).","entity_name":"PRDM12","entity_type":"gene"},{"created":"2021-05-11T15:34:13.499686+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7584","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRDM12 were changed from  to Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488; MONDO:0014662","entity_name":"PRDM12","entity_type":"gene"},{"created":"2021-05-11T15:33:54.432576+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7583","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRDM12 were set to ","entity_name":"PRDM12","entity_type":"gene"},{"created":"2021-05-11T15:33:36.320043+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7582","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PRDM12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRDM12","entity_type":"gene"},{"created":"2021-05-11T15:33:19.580140+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7581","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PRDM12: Rating: GREEN; Mode of pathogenicity: None; Publications: 26005867, 33789102, 33010785, 32828702; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488, MONDO:0014662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRDM12","entity_type":"gene"},{"created":"2021-05-11T12:01:09.396005+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7581","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FIP1L1 as ready","entity_name":"FIP1L1","entity_type":"gene"},{"created":"2021-05-11T12:01:09.383219+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7581","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fip1l1 has been classified as Red List (Low Evidence).","entity_name":"FIP1L1","entity_type":"gene"},{"created":"2021-05-11T12:00:57.245355+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7581","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FIP1L1 as Red List (low evidence)","entity_name":"FIP1L1","entity_type":"gene"},{"created":"2021-05-11T12:00:57.232171+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7581","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fip1l1 has been classified as Red List (Low Evidence).","entity_name":"FIP1L1","entity_type":"gene"},{"created":"2021-05-11T12:00:39.327942+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7580","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FIP1L1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"FIP1L1","entity_type":"gene"},{"created":"2021-05-11T11:57:17.712384+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7580","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: THBS2 as ready","entity_name":"THBS2","entity_type":"gene"},{"created":"2021-05-11T11:57:17.699544+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7580","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: thbs2 has been classified as Red List (Low Evidence).","entity_name":"THBS2","entity_type":"gene"},{"created":"2021-05-11T11:57:02.404272+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7580","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: THBS2 were changed from  to {Lumbar disc herniation, susceptibility to} 603932","entity_name":"THBS2","entity_type":"gene"},{"created":"2021-05-11T11:56:42.129892+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7579","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: THBS2 as Red List (low evidence)","entity_name":"THBS2","entity_type":"gene"},{"created":"2021-05-11T11:56:42.119938+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7579","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: thbs2 has been classified as Red List (Low Evidence).","entity_name":"THBS2","entity_type":"gene"},{"created":"2021-05-11T11:56:24.853512+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7578","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: THBS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Lumbar disc herniation, susceptibility to} 603932; Mode of inheritance: None","entity_name":"THBS2","entity_type":"gene"},{"created":"2021-05-11T11:07:57.362803+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7578","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADIPOQ as ready","entity_name":"ADIPOQ","entity_type":"gene"},{"created":"2021-05-11T11:07:57.356581+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7578","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: No evidence for association with Mendelian disease.","entity_name":"ADIPOQ","entity_type":"gene"},{"created":"2021-05-11T11:07:57.307286+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7578","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adipoq has been classified as Red List (Low Evidence).","entity_name":"ADIPOQ","entity_type":"gene"},{"created":"2021-05-11T11:07:49.989296+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7578","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADIPOQ were changed from  to Adiponectin deficiency MIM#612556","entity_name":"ADIPOQ","entity_type":"gene"},{"created":"2021-05-11T11:07:29.170408+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7577","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADIPOQ were set to ","entity_name":"ADIPOQ","entity_type":"gene"},{"created":"2021-05-11T11:07:06.596581+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7576","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ADIPOQ as Red List (low evidence)","entity_name":"ADIPOQ","entity_type":"gene"},{"created":"2021-05-11T11:07:06.587855+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7576","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adipoq has been classified as Red List (Low Evidence).","entity_name":"ADIPOQ","entity_type":"gene"},{"created":"2021-05-11T11:06:26.563572+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7575","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: INTU as ready","entity_name":"INTU","entity_type":"gene"},{"created":"2021-05-11T11:06:26.551605+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7575","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: intu has been classified as Green List (High Evidence).","entity_name":"INTU","entity_type":"gene"},{"created":"2021-05-11T11:06:19.033250+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7575","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: INTU were changed from  to ?Orofaciodigital syndrome XVII MIM#617926; ?Short-rib thoracic dysplasia 20 with polydactyly","entity_name":"INTU","entity_type":"gene"},{"created":"2021-05-11T11:05:59.999276+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7574","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: INTU were set to ","entity_name":"INTU","entity_type":"gene"},{"created":"2021-05-11T11:05:40.412097+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7573","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: INTU was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"INTU","entity_type":"gene"},{"created":"2021-05-11T11:05:11.423932+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.278","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: INTU as ready","entity_name":"INTU","entity_type":"gene"},{"created":"2021-05-11T11:05:11.413380+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.278","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: intu has been classified as Green List (High Evidence).","entity_name":"INTU","entity_type":"gene"},{"created":"2021-05-11T11:04:33.992193+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7572","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: ADIPOQ: Rating: RED; Mode of pathogenicity: None; Publications: 10918532, 32685557, 33075772, 30574262; Phenotypes: Adiponectin deficiency MIM#612556; Mode of inheritance: None","entity_name":"ADIPOQ","entity_type":"gene"},{"created":"2021-05-11T11:04:28.423139+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.278","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: INTU as Green List (high evidence)","entity_name":"INTU","entity_type":"gene"},{"created":"2021-05-11T11:04:28.413150+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.278","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: intu has been classified as Green List (High Evidence).","entity_name":"INTU","entity_type":"gene"},{"created":"2021-05-11T09:46:46.041167+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7572","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: INTU: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27158779, 29451301, 20067783; Phenotypes: ?Orofaciodigital syndrome XVII MIM#617926, ?Short-rib thoracic dysplasia 20 with polydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"INTU","entity_type":"gene"},{"created":"2021-05-11T09:44:12.176893+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.277","user_name":"Elena Savva","item_type":"entity","text":"gene: INTU was added\ngene: INTU was added to Ciliopathies. Sources: Literature\nMode of inheritance for gene: INTU was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INTU were set to PMID: 27158779; 29451301; 20067783\nPhenotypes for gene: INTU were set to ?Orofaciodigital syndrome XVII MIM#617926; ?Short-rib thoracic dysplasia 20 with polydactyly\tMIM#617925\nReview for gene: INTU was set to GREEN\nAdded comment: PMID: 27158779 - 1 hom (PTC) and 1 chet (PTC/missense) patient with OFD or Short-rib thoracic dysplasia\r\n\r\nPMID: 20067783 - null mouse model exhibits severe polydactyly, lethal midgestation, exhibiting multiple defects including neural tube closure defects, abnormal dorsal/ventral patterning of the central nervous system \r\n\r\nPMID: 29451301 - 1 chet patient (missense/CNV) with OFD and polydactyly \nSources: Literature","entity_name":"INTU","entity_type":"gene"},{"created":"2021-05-10T21:09:57.321078+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7572","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NGF as ready","entity_name":"NGF","entity_type":"gene"},{"created":"2021-05-10T21:09:57.310474+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7572","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ngf has been classified as Green List (High Evidence).","entity_name":"NGF","entity_type":"gene"},{"created":"2021-05-10T21:09:49.142608+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7572","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NGF were changed from  to Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654; MONDO:0012092","entity_name":"NGF","entity_type":"gene"},{"created":"2021-05-10T21:09:29.769262+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7571","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NGF were set to ","entity_name":"NGF","entity_type":"gene"},{"created":"2021-05-10T21:09:02.714046+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7570","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NGF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NGF","entity_type":"gene"},{"created":"2021-05-10T21:08:45.192004+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7569","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NGF: Rating: GREEN; Mode of pathogenicity: None; Publications: 14976160, 20978020, 33884296, 32693191, 31685654, 30296891; Phenotypes: Neuropathy, hereditary sensory and autonomic, type V, MIM# 608654, MONDO:0012092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NGF","entity_type":"gene"},{"created":"2021-05-10T20:39:12.954617+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7569","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPEG were changed from Centronuclear myopathy 5, MIM# 615959 to Centronuclear myopathy 5, MIM# 615959; Dilated cardiomyopathy","entity_name":"SPEG","entity_type":"gene"},{"created":"2021-05-10T20:38:59.898089+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7568","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SPEG were set to 25087613; 31625632; 30412272; 30157964; 29614691; 29474540; 28624463; 26578207; 25087613","entity_name":"SPEG","entity_type":"gene"},{"created":"2021-05-10T20:38:30.774956+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7567","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SPEG: Added comment: PMIDs 32925938;33794647: Reports of early onset isolated DCM, as well as cardiomyopathy in the context of skeletal myopathy.; Changed publications: 25087613, 31625632, 30412272, 30157964, 29614691, 29474540, 28624463, 26578207, 25087613, 32925938, 33794647; Changed phenotypes: Centronuclear myopathy 5, MIM# 615959, Dilated cardiomyopathy","entity_name":"SPEG","entity_type":"gene"},{"created":"2021-05-10T18:19:44.006728+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7567","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: At least 16 families described, and mouse model supports gene-disease association.; to: CAKUT: At least 16 families described, and mouse model supports gene-disease association.","entity_name":"GREB1L","entity_type":"gene"},{"created":"2021-05-10T18:08:41.310135+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.330","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDUFB3 as ready","entity_name":"NDUFB3","entity_type":"gene"},{"created":"2021-05-10T18:08:41.299676+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.330","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufb3 has been classified as Red List (Low Evidence).","entity_name":"NDUFB3","entity_type":"gene"},{"created":"2021-05-10T18:08:37.762119+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.330","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDUFB3 were changed from  to Mitochondrial complex I deficiency, nuclear type 25, MIM#618246; MONDO:0032629","entity_name":"NDUFB3","entity_type":"gene"},{"created":"2021-05-10T18:08:15.118739+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.329","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFB3 were set to ","entity_name":"NDUFB3","entity_type":"gene"},{"created":"2021-05-10T18:07:53.154321+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.328","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NDUFB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFB3","entity_type":"gene"},{"created":"2021-05-10T18:07:32.361732+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.327","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NDUFB3 as Red List (low evidence)","entity_name":"NDUFB3","entity_type":"gene"},{"created":"2021-05-10T18:07:32.352652+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.327","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufb3 has been classified as Red List (Low Evidence).","entity_name":"NDUFB3","entity_type":"gene"},{"created":"2021-05-10T18:07:02.973844+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.326","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NDUFB3: Rating: RED; Mode of pathogenicity: None; Publications: 22277967, 22499348, 27091925; Phenotypes: Mitochondrial complex I deficiency, nuclear type 25, MIM#618246, MONDO:0032629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFB3","entity_type":"gene"},{"created":"2021-05-10T18:04:51.468369+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.291","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDUFB3 as ready","entity_name":"NDUFB3","entity_type":"gene"},{"created":"2021-05-10T18:04:51.453205+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.291","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufb3 has been classified as Red List (Low Evidence).","entity_name":"NDUFB3","entity_type":"gene"},{"created":"2021-05-10T18:04:47.818336+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.291","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDUFB3 were changed from  to Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246; MONDO:0032629","entity_name":"NDUFB3","entity_type":"gene"},{"created":"2021-05-10T18:04:19.942393+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.290","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFB3 were set to ","entity_name":"NDUFB3","entity_type":"gene"},{"created":"2021-05-10T18:03:48.565474+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.289","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NDUFB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFB3","entity_type":"gene"},{"created":"2021-05-10T18:03:20.691410+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NDUFB3 as Red List (low evidence)","entity_name":"NDUFB3","entity_type":"gene"},{"created":"2021-05-10T18:03:20.680687+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufb3 has been classified as Red List (Low Evidence).","entity_name":"NDUFB3","entity_type":"gene"},{"created":"2021-05-10T18:02:57.107110+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.287","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NDUFB3: Rating: RED; Mode of pathogenicity: None; Publications: 22499348, 27091925; Phenotypes: Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246, MONDO:0032629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFB3","entity_type":"gene"},{"created":"2021-05-10T18:02:04.632438+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.626","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDUFB3 as ready","entity_name":"NDUFB3","entity_type":"gene"},{"created":"2021-05-10T18:02:04.623388+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.626","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufb3 has been classified as Green List (High Evidence).","entity_name":"NDUFB3","entity_type":"gene"},{"created":"2021-05-10T18:02:01.856190+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.626","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDUFB3 were changed from  to Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246; MONDO:0032629","entity_name":"NDUFB3","entity_type":"gene"},{"created":"2021-05-10T18:01:37.953006+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.625","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFB3 were set to ","entity_name":"NDUFB3","entity_type":"gene"},{"created":"2021-05-10T18:01:08.253741+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.624","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NDUFB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFB3","entity_type":"gene"}]}