{"count":220751,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1269","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1267","results":[{"created":"2021-07-17T18:26:47.985011+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.295","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM138 were changed from  to Joubert syndrome 16, MIM# 614465; MONDO:0013764","entity_name":"TMEM138","entity_type":"gene"},{"created":"2021-07-17T18:26:19.290005+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.294","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMEM138 were set to ","entity_name":"TMEM138","entity_type":"gene"},{"created":"2021-07-17T18:25:40.639603+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.293","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMEM138 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM138","entity_type":"gene"},{"created":"2021-07-17T18:25:11.562981+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.292","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: At least 5 unrelated families reported.; to: At least 5 unrelated families reported. Renal cysts/nephrnophthisis reported.","entity_name":"TMEM138","entity_type":"gene"},{"created":"2021-07-17T18:24:15.679287+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.292","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM107 as ready","entity_name":"TMEM107","entity_type":"gene"},{"created":"2021-07-17T18:24:15.667619+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.292","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem107 has been classified as Amber List (Moderate Evidence).","entity_name":"TMEM107","entity_type":"gene"},{"created":"2021-07-17T18:24:12.678989+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.292","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM107 were changed from  to Meckel syndrome 13 (MIM#617562); Orofaciodigital syndrome XVI (MIM#617563)","entity_name":"TMEM107","entity_type":"gene"},{"created":"2021-07-17T18:23:50.038078+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.291","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMEM107 were set to ","entity_name":"TMEM107","entity_type":"gene"},{"created":"2021-07-17T18:23:23.921347+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.290","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMEM107 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM107","entity_type":"gene"},{"created":"2021-07-17T18:22:51.291021+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.289","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMEM107 as Amber List (moderate evidence)","entity_name":"TMEM107","entity_type":"gene"},{"created":"2021-07-17T18:22:51.281598+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.289","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem107 has been classified as Amber List (Moderate Evidence).","entity_name":"TMEM107","entity_type":"gene"},{"created":"2021-07-17T18:22:20.518122+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: TMEM107: Renal phenotype observed in MKS.","entity_name":"TMEM107","entity_type":"gene"},{"created":"2021-07-17T18:22:00.752943+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TMEM107: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"TMEM107","entity_type":"gene"},{"created":"2021-07-17T18:20:23.483671+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TCTN3 as ready","entity_name":"TCTN3","entity_type":"gene"},{"created":"2021-07-17T18:20:23.471995+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tctn3 has been classified as Green List (High Evidence).","entity_name":"TCTN3","entity_type":"gene"},{"created":"2021-07-17T18:20:21.014507+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TCTN3 were changed from  to Joubert syndrome 18, MIM# 614815; MONDO:0013896; Mohr-Majewski syndrome; Meckel-Gruber syndrome","entity_name":"TCTN3","entity_type":"gene"},{"created":"2021-07-17T18:19:50.148968+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.287","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TCTN3 were set to ","entity_name":"TCTN3","entity_type":"gene"},{"created":"2021-07-17T18:19:20.169298+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.286","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TCTN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCTN3","entity_type":"gene"},{"created":"2021-07-17T18:18:56.216527+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.285","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Three unrelated families reported with JBTS phenotype. Variants in this gene are associated with other ciliopathies as well (OFD and Mohr-Majewski).; to: Variants in this gene are associated with a range of ciliopathies, but renal involvement reported in Mohr-Majewski and Meckel-Gruber presentations.","entity_name":"TCTN3","entity_type":"gene"},{"created":"2021-07-17T18:18:21.184387+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.285","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TCTN3: Changed publications: 22883145, 32139166, 25118024, 22883145, 34096792; Changed phenotypes: Joubert syndrome 18, MIM# 614815, MONDO:0013896, Mohr-Majewski syndrome, Meckel-Gruber syndrome","entity_name":"TCTN3","entity_type":"gene"},{"created":"2021-07-17T18:15:33.968801+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.285","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TCTN2 as ready","entity_name":"TCTN2","entity_type":"gene"},{"created":"2021-07-17T18:15:33.958013+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.285","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tctn2 has been classified as Green List (High Evidence).","entity_name":"TCTN2","entity_type":"gene"},{"created":"2021-07-17T18:15:31.280248+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.285","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TCTN2 were changed from  to Joubert syndrome 24, MIM# 616654; MONDO:0014724; Meckel syndrome 8, MIM# 613885; MONDO:0013482","entity_name":"TCTN2","entity_type":"gene"},{"created":"2021-07-17T18:15:07.144358+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.284","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TCTN2 were set to ","entity_name":"TCTN2","entity_type":"gene"},{"created":"2021-07-17T18:14:34.855635+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.283","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TCTN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCTN2","entity_type":"gene"},{"created":"2021-07-17T18:14:09.939531+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.282","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: At least 5 families reported with JBTS phenotype, and 3 with Meckel phenotype; mouse model.; to: At least 5 families reported with JBTS phenotype, and 3 with Meckel phenotype; mouse model. Renal abnormalities are part of the Meckel phenotype.","entity_name":"TCTN2","entity_type":"gene"},{"created":"2021-07-17T18:13:03.299621+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.282","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TCTN1 as ready","entity_name":"TCTN1","entity_type":"gene"},{"created":"2021-07-17T18:13:03.285034+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.282","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tctn1 has been classified as Red List (Low Evidence).","entity_name":"TCTN1","entity_type":"gene"},{"created":"2021-07-17T18:13:00.079388+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.282","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TCTN1 were changed from  to Joubert syndrome 13, MIM# 614173","entity_name":"TCTN1","entity_type":"gene"},{"created":"2021-07-17T18:12:28.576314+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.281","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TCTN1 were set to ","entity_name":"TCTN1","entity_type":"gene"},{"created":"2021-07-17T18:10:36.039713+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.280","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TCTN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCTN1","entity_type":"gene"},{"created":"2021-07-17T18:10:13.340057+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TCTN1 as Red List (low evidence)","entity_name":"TCTN1","entity_type":"gene"},{"created":"2021-07-17T18:10:13.329395+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tctn1 has been classified as Red List (Low Evidence).","entity_name":"TCTN1","entity_type":"gene"},{"created":"2021-07-17T18:09:43.069212+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.278","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: At least 4 unrelated families reported, mouse model.; to: At least 4 unrelated families reported with JBTS, mouse model. Renal involvement not reported.","entity_name":"TCTN1","entity_type":"gene"},{"created":"2021-07-17T18:09:29.602773+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.278","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TCTN1: Changed rating: RED","entity_name":"TCTN1","entity_type":"gene"},{"created":"2021-07-17T18:08:32.570856+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.278","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPGRIP1L as ready","entity_name":"RPGRIP1L","entity_type":"gene"},{"created":"2021-07-17T18:08:32.560379+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.278","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpgrip1l has been classified as Green List (High Evidence).","entity_name":"RPGRIP1L","entity_type":"gene"},{"created":"2021-07-17T18:08:29.904996+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.278","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RPGRIP1L were changed from  to Joubert syndrome 7, MIM# 611560; Meckel syndrome 5, MIM# 611561; COACH syndrome 3, MIM# 619113; Nephronophthisis","entity_name":"RPGRIP1L","entity_type":"gene"},{"created":"2021-07-17T18:07:54.327965+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.277","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RPGRIP1L were set to ","entity_name":"RPGRIP1L","entity_type":"gene"},{"created":"2021-07-17T18:07:25.359880+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.276","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RPGRIP1L was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RPGRIP1L","entity_type":"gene"},{"created":"2021-07-17T18:07:09.417499+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.276","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RPGRIP1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RPGRIP1L","entity_type":"gene"},{"created":"2021-07-17T18:03:44.066360+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.274","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OFD1 as ready","entity_name":"OFD1","entity_type":"gene"},{"created":"2021-07-17T18:03:44.055707+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.274","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ofd1 has been classified as Green List (High Evidence).","entity_name":"OFD1","entity_type":"gene"},{"created":"2021-07-17T18:03:41.111023+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.274","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OFD1 were changed from  to Orofaciodigital syndrome I, MIM# 311200; Joubert syndrome 10, MIM# 300804","entity_name":"OFD1","entity_type":"gene"},{"created":"2021-07-17T18:03:10.980219+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.273","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: OFD1 were set to ","entity_name":"OFD1","entity_type":"gene"},{"created":"2021-07-17T18:02:46.797143+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.272","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: OFD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"OFD1","entity_type":"gene"},{"created":"2021-07-17T18:02:16.365763+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.271","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: XLD. Polydactyly is a rare feature. Primarily facial/neurological features.; to: Gene is associated with multiple ciliopathy phenotypes but renal involvement reported with JBTS/OFD.","entity_name":"OFD1","entity_type":"gene"},{"created":"2021-07-17T18:01:30.744773+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.271","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: OFD1: Changed publications: 19800048, 22353940","entity_name":"OFD1","entity_type":"gene"},{"created":"2021-07-17T18:00:55.475029+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.271","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: OFD1: Changed rating: GREEN; Changed phenotypes: Orofaciodigital syndrome I, MIM# 311200, Joubert syndrome 10, MIM# 300804; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"OFD1","entity_type":"gene"},{"created":"2021-07-17T17:58:43.000953+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.271","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NPHP4 as ready","entity_name":"NPHP4","entity_type":"gene"},{"created":"2021-07-17T17:58:42.987784+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.271","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nphp4 has been classified as Green List (High Evidence).","entity_name":"NPHP4","entity_type":"gene"},{"created":"2021-07-17T17:58:39.202983+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.271","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NPHP4 were changed from  to Nephronophthisis 4, MIM# 606966; Senior-Loken syndrome 4, MIM# 606996","entity_name":"NPHP4","entity_type":"gene"},{"created":"2021-07-17T17:58:10.098590+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NPHP4 were set to ","entity_name":"NPHP4","entity_type":"gene"},{"created":"2021-07-17T17:57:39.758941+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.269","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NPHP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPHP4","entity_type":"gene"},{"created":"2021-07-17T17:57:11.051482+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NPHP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12244321, 12205563, 34013113; Phenotypes: Nephronophthisis 4, MIM# 606966, Senior-Loken syndrome 4, MIM# 606996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPHP4","entity_type":"gene"},{"created":"2021-07-17T17:55:06.303287+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MKS1 as ready","entity_name":"MKS1","entity_type":"gene"},{"created":"2021-07-17T17:55:06.290542+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mks1 has been classified as Green List (High Evidence).","entity_name":"MKS1","entity_type":"gene"},{"created":"2021-07-17T17:54:50.123349+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.268","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MKS1 were changed from  to Bardet-Biedl syndrome 13, MIM# 615990; MONDO:0014441; Meckel syndrome 1, MIM# 249000","entity_name":"MKS1","entity_type":"gene"},{"created":"2021-07-17T17:54:26.833351+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.267","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MKS1 were set to ","entity_name":"MKS1","entity_type":"gene"},{"created":"2021-07-17T17:54:02.511814+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.266","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MKS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MKS1","entity_type":"gene"},{"created":"2021-07-17T17:53:32.339583+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.265","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established ciliopathy gene, two families reported with BBS phenotype.; to: Well established ciliopathy gene, two families reported with BBS phenotype and renal cysts are a prominent feature of Meckel syndrome.","entity_name":"MKS1","entity_type":"gene"},{"created":"2021-07-17T17:53:17.334743+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.265","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MKS1: Changed publications: 18327255, 24608809, 17377820; Changed phenotypes: Bardet-Biedl syndrome 13, MIM# 615990, MONDO:0014441, Meckel syndrome 1, MIM# 249000","entity_name":"MKS1","entity_type":"gene"},{"created":"2021-07-17T17:51:20.781632+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.265","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MKKS as ready","entity_name":"MKKS","entity_type":"gene"},{"created":"2021-07-17T17:51:20.771710+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.265","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mkks has been classified as Green List (High Evidence).","entity_name":"MKKS","entity_type":"gene"},{"created":"2021-07-17T17:51:17.211423+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.265","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MKKS were changed from  to Bardet-Biedl syndrome 6 (MIM#605231); McKusick-Kaufman syndrome, MIM# 236700","entity_name":"MKKS","entity_type":"gene"},{"created":"2021-07-17T17:50:39.037973+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.264","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MKKS were set to ","entity_name":"MKKS","entity_type":"gene"},{"created":"2021-07-17T17:49:59.344336+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.263","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MKKS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MKKS","entity_type":"gene"},{"created":"2021-07-17T17:49:27.544540+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.262","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: None; Publications: 10802661; Phenotypes: McKusick-Kaufman syndrome, MIM# 236700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MKKS","entity_type":"gene"},{"created":"2021-07-17T17:47:21.465181+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.262","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF7 as ready","entity_name":"KIF7","entity_type":"gene"},{"created":"2021-07-17T17:47:21.454814+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.262","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif7 has been classified as Red List (Low Evidence).","entity_name":"KIF7","entity_type":"gene"},{"created":"2021-07-17T17:47:18.751856+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.262","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIF7 were changed from  to Acrocallosal syndrome, MIM# 200990; Joubert syndrome 12, MIM# 200990","entity_name":"KIF7","entity_type":"gene"},{"created":"2021-07-17T17:46:48.545048+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.261","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KIF7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"KIF7","entity_type":"gene"},{"created":"2021-07-17T17:46:23.880582+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.260","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIF7 as Red List (low evidence)","entity_name":"KIF7","entity_type":"gene"},{"created":"2021-07-17T17:46:23.870723+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.260","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif7 has been classified as Red List (Low Evidence).","entity_name":"KIF7","entity_type":"gene"},{"created":"2021-07-17T17:45:59.447807+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.259","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Polydactyly is a feature of acrocallosal syndrome, but overall predominantly neurological presentation.; to: Overall predominantly neurological presentation.","entity_name":"KIF7","entity_type":"gene"},{"created":"2021-07-17T17:45:49.408168+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.259","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KIF7: Changed rating: RED","entity_name":"KIF7","entity_type":"gene"},{"created":"2021-07-17T17:44:18.750585+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.259","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIAA0753 as ready","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2021-07-17T17:44:18.741122+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.259","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kiaa0753 has been classified as Red List (Low Evidence).","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2021-07-17T17:44:16.069057+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.259","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIAA0753 were changed from  to Short-rib skeletal dysplasia; Orofaciodigital syndrome XV, MIM# 617127; Jeune ATD","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2021-07-17T17:43:47.564995+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.258","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KIAA0753 were set to ","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2021-07-17T17:43:18.112892+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.257","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KIAA0753 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2021-07-17T17:42:55.092655+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.256","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIAA0753 as Red List (low evidence)","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2021-07-17T17:42:55.083183+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.256","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kiaa0753 has been classified as Red List (Low Evidence).","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2021-07-17T17:42:23.546038+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KIAA0753: Changed rating: RED","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2021-07-17T17:42:17.410124+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Four individuals from three unrelated families reported with a predominantly skeletal ciliopathy phenotype. \nSources: Expert list; to: Four individuals from three unrelated families reported with a predominantly skeletal ciliopathy phenotype, one with OFD, and one with Jeune. Only the individual with OFD is reported to have had renal involvement (hydronephrosis) which may or may not be considered part of a ciliopathy phenotype.\r\nSources: Expert list","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2021-07-17T17:41:22.403297+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KIAA0753: Changed phenotypes: Short-rib skeletal dysplasia, Orofaciodigital syndrome XV, MIM# 617127, Jeune ATD","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2021-07-17T17:41:14.994769+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KIAA0753: Changed publications: 29138412, 26643951, 31816441","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2021-07-17T17:40:04.064001+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KIAA0753: Changed publications: 29138412, 26643951; Changed phenotypes: Short-rib skeletal dysplasia, Orofaciodigital syndrome XV, MIM# 617127","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2021-07-17T17:38:55.336502+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIAA0586 as ready","entity_name":"KIAA0586","entity_type":"gene"},{"created":"2021-07-17T17:38:55.325597+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kiaa0586 has been classified as Red List (Low Evidence).","entity_name":"KIAA0586","entity_type":"gene"},{"created":"2021-07-17T17:38:52.576627+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIAA0586 were changed from  to Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546; Joubert syndrome 23, MIM# 616490","entity_name":"KIAA0586","entity_type":"gene"},{"created":"2021-07-17T17:38:21.663321+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.254","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KIAA0586 were set to ","entity_name":"KIAA0586","entity_type":"gene"},{"created":"2021-07-17T17:37:52.914837+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.253","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KIAA0586 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"KIAA0586","entity_type":"gene"},{"created":"2021-07-17T17:37:29.705931+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.252","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIAA0586 as Red List (low evidence)","entity_name":"KIAA0586","entity_type":"gene"},{"created":"2021-07-17T17:37:29.695916+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.252","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kiaa0586 has been classified as Red List (Low Evidence).","entity_name":"KIAA0586","entity_type":"gene"},{"created":"2021-07-17T17:37:03.996302+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.251","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Four unrelated families reported with a severe neurological/skeletal phenotype. However, note same variant identified in three of the families, indicative of founder effect. Gene is also associated with Joubert syndrome.; to: Multiple families reported with JBTS/ATD phenotype. Renal involvement not reported.","entity_name":"KIAA0586","entity_type":"gene"},{"created":"2021-07-17T17:36:31.327539+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.251","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KIAA0586: Changed rating: RED","entity_name":"KIAA0586","entity_type":"gene"},{"created":"2021-07-17T17:36:25.642988+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.251","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KIAA0586: Changed publications: 26166481, 26096313, 29146704","entity_name":"KIAA0586","entity_type":"gene"},{"created":"2021-07-17T17:35:32.788835+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.251","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KIAA0586: Changed rating: GREEN; Changed publications: 26166481, 26096313; Changed phenotypes: Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546, Joubert syndrome 23, MIM# 616490","entity_name":"KIAA0586","entity_type":"gene"},{"created":"2021-07-17T17:33:23.735128+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIAA0556 as ready","entity_name":"KIAA0556","entity_type":"gene"}]}