{"count":221272,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=706","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=704","results":[{"created":"2022-10-31T19:40:23.319955+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.715","user_name":"Seb Lunke","item_type":"entity","text":"Tag clinical trial tag was added to gene: SLC16A2.","entity_name":"SLC16A2","entity_type":"gene"},{"created":"2022-10-31T19:40:10.044164+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.715","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SLC16A2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Allan-Herndon-Dudley syndrome, MIM# 300523; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"SLC16A2","entity_type":"gene"},{"created":"2022-10-31T19:36:53.312123+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.715","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SLC12A6 as ready","entity_name":"SLC12A6","entity_type":"gene"},{"created":"2022-10-31T19:36:53.304097+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.715","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc12a6 has been classified as Red List (Low Evidence).","entity_name":"SLC12A6","entity_type":"gene"},{"created":"2022-10-31T19:36:49.331712+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.715","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SLC12A6 were changed from Agenesis of the corpus callosum with peripheral neuropathy to Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800","entity_name":"SLC12A6","entity_type":"gene"},{"created":"2022-10-31T19:36:39.401674+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.714","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SLC12A6 as Red List (low evidence)","entity_name":"SLC12A6","entity_type":"gene"},{"created":"2022-10-31T19:36:39.393056+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.714","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc12a6 has been classified as Red List (Low Evidence).","entity_name":"SLC12A6","entity_type":"gene"},{"created":"2022-10-31T19:36:26.200715+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.713","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SLC12A6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC12A6","entity_type":"gene"},{"created":"2022-10-31T19:33:42.068614+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.713","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SLC12A3 as ready","entity_name":"SLC12A3","entity_type":"gene"},{"created":"2022-10-31T19:33:42.060165+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.713","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc12a3 has been classified as Red List (Low Evidence).","entity_name":"SLC12A3","entity_type":"gene"},{"created":"2022-10-31T19:33:33.931460+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.713","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SLC12A3 were changed from Gitelman syndrome to Gitelman syndrome, MIM# 263800","entity_name":"SLC12A3","entity_type":"gene"},{"created":"2022-10-31T19:33:22.763307+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.712","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SLC12A3 as Red List (low evidence)","entity_name":"SLC12A3","entity_type":"gene"},{"created":"2022-10-31T19:33:22.747105+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.712","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc12a3 has been classified as Red List (Low Evidence).","entity_name":"SLC12A3","entity_type":"gene"},{"created":"2022-10-31T19:33:09.163363+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.711","user_name":"Seb Lunke","item_type":"entity","text":"Tag for review tag was added to gene: SLC12A3.","entity_name":"SLC12A3","entity_type":"gene"},{"created":"2022-10-31T19:32:57.790307+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.711","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SLC12A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Gitelman syndrome, MIM# 263800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC12A3","entity_type":"gene"},{"created":"2022-10-31T19:29:24.280557+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.711","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SLC12A1 as ready","entity_name":"SLC12A1","entity_type":"gene"},{"created":"2022-10-31T19:29:24.271204+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.711","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc12a1 has been classified as Green List (High Evidence).","entity_name":"SLC12A1","entity_type":"gene"},{"created":"2022-10-31T19:29:17.873685+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.711","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SLC12A1 were changed from Bartter syndrome to Bartter syndrome, type 1, MIM# 601678","entity_name":"SLC12A1","entity_type":"gene"},{"created":"2022-10-31T19:29:00.350099+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.710","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SLC12A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bartter syndrome, type 1, MIM# 601678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC12A1","entity_type":"gene"},{"created":"2022-10-31T19:20:39.543757+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.710","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SKI as ready","entity_name":"SKI","entity_type":"gene"},{"created":"2022-10-31T19:20:39.534130+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.710","user_name":"Seb Lunke","item_type":"entity","text":"Gene: ski has been classified as Red List (Low Evidence).","entity_name":"SKI","entity_type":"gene"},{"created":"2022-10-31T19:20:29.662083+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.710","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SKI were changed from Shprintzen-Goldberg syndrome to Shprintzen-Goldberg syndrome, MIM#182212","entity_name":"SKI","entity_type":"gene"},{"created":"2022-10-31T19:20:21.171612+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.709","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SKI as Red List (low evidence)","entity_name":"SKI","entity_type":"gene"},{"created":"2022-10-31T19:20:21.155400+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.709","user_name":"Seb Lunke","item_type":"entity","text":"Gene: ski has been classified as Red List (Low Evidence).","entity_name":"SKI","entity_type":"gene"},{"created":"2022-10-31T19:20:08.567660+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.708","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SKI: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Shprintzen-Goldberg syndrome, MIM#182212; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SKI","entity_type":"gene"},{"created":"2022-10-31T19:18:54.833467+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.708","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SIX3 as ready","entity_name":"SIX3","entity_type":"gene"},{"created":"2022-10-31T19:18:54.820830+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.708","user_name":"Seb Lunke","item_type":"entity","text":"Gene: six3 has been classified as Red List (Low Evidence).","entity_name":"SIX3","entity_type":"gene"},{"created":"2022-10-31T19:18:50.089350+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.708","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SIX3 were changed from Holoprosencephaly-2 to Holoprosencephaly 2, MIM# 157170","entity_name":"SIX3","entity_type":"gene"},{"created":"2022-10-31T19:18:33.390675+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.707","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SIX3 as Red List (low evidence)","entity_name":"SIX3","entity_type":"gene"},{"created":"2022-10-31T19:18:33.382931+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.707","user_name":"Seb Lunke","item_type":"entity","text":"Gene: six3 has been classified as Red List (Low Evidence).","entity_name":"SIX3","entity_type":"gene"},{"created":"2022-10-31T19:18:18.987653+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.706","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SIX3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Holoprosencephaly 2, MIM# 157170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SIX3","entity_type":"gene"},{"created":"2022-10-31T16:48:44.519555+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.706","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SIX1 as ready","entity_name":"SIX1","entity_type":"gene"},{"created":"2022-10-31T16:48:44.509222+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.706","user_name":"Seb Lunke","item_type":"entity","text":"Gene: six1 has been classified as Red List (Low Evidence).","entity_name":"SIX1","entity_type":"gene"},{"created":"2022-10-31T16:48:36.058129+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.706","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SIX1 were changed from Branchiootorenal syndrome to Branchiootic syndrome 3, MIM# 608389","entity_name":"SIX1","entity_type":"gene"},{"created":"2022-10-31T16:48:25.827410+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.705","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SIX1 as Red List (low evidence)","entity_name":"SIX1","entity_type":"gene"},{"created":"2022-10-31T16:48:25.817003+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.705","user_name":"Seb Lunke","item_type":"entity","text":"Gene: six1 has been classified as Red List (Low Evidence).","entity_name":"SIX1","entity_type":"gene"},{"created":"2022-10-31T16:48:14.553559+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.704","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SIX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Branchiootic syndrome 3, MIM# 608389; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SIX1","entity_type":"gene"},{"created":"2022-10-31T16:45:35.032317+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.704","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SIL1 as ready","entity_name":"SIL1","entity_type":"gene"},{"created":"2022-10-31T16:45:35.021784+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.704","user_name":"Seb Lunke","item_type":"entity","text":"Gene: sil1 has been classified as Red List (Low Evidence).","entity_name":"SIL1","entity_type":"gene"},{"created":"2022-10-31T16:45:31.858467+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.704","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SIL1 were changed from Marinesco-Sjogren syndrome to Marinesco-Sjogren syndrome, MIM#248800","entity_name":"SIL1","entity_type":"gene"},{"created":"2022-10-31T16:45:12.926303+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.703","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SIL1 as Red List (low evidence)","entity_name":"SIL1","entity_type":"gene"},{"created":"2022-10-31T16:45:12.918964+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.703","user_name":"Seb Lunke","item_type":"entity","text":"Gene: sil1 has been classified as Red List (Low Evidence).","entity_name":"SIL1","entity_type":"gene"},{"created":"2022-10-31T16:45:00.332289+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.702","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SIL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Marinesco-Sjogren syndrome, MIM#248800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SIL1","entity_type":"gene"},{"created":"2022-10-31T16:25:37.432378+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.702","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SI as ready","entity_name":"SI","entity_type":"gene"},{"created":"2022-10-31T16:25:37.422635+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.702","user_name":"Seb Lunke","item_type":"entity","text":"Gene: si has been classified as Green List (High Evidence).","entity_name":"SI","entity_type":"gene"},{"created":"2022-10-31T16:25:22.650493+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.702","user_name":"Seb Lunke","item_type":"entity","text":"Tag for review tag was added to gene: SI.","entity_name":"SI","entity_type":"gene"},{"created":"2022-10-31T16:25:06.791751+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.702","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SI: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sucrase-isomaltase deficiency, congenital, MIM# 222900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SI","entity_type":"gene"},{"created":"2022-10-31T16:18:41.253037+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.702","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SHH as ready","entity_name":"SHH","entity_type":"gene"},{"created":"2022-10-31T16:18:41.230915+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.702","user_name":"Seb Lunke","item_type":"entity","text":"Gene: shh has been classified as Red List (Low Evidence).","entity_name":"SHH","entity_type":"gene"},{"created":"2022-10-31T16:18:37.884090+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.702","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SHH were changed from Holoprosencephaly-3 to Holoprosencephaly 3, MIM#142945","entity_name":"SHH","entity_type":"gene"},{"created":"2022-10-31T16:18:25.310348+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.701","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SHH as Red List (low evidence)","entity_name":"SHH","entity_type":"gene"},{"created":"2022-10-31T16:18:25.296616+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.701","user_name":"Seb Lunke","item_type":"entity","text":"Gene: shh has been classified as Red List (Low Evidence).","entity_name":"SHH","entity_type":"gene"},{"created":"2022-10-31T16:18:11.924080+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.700","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SHH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Holoprosencephaly 3, MIM#142945; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SHH","entity_type":"gene"},{"created":"2022-10-31T16:16:17.720304+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.700","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SHANK3 as ready","entity_name":"SHANK3","entity_type":"gene"},{"created":"2022-10-31T16:16:17.706953+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.700","user_name":"Seb Lunke","item_type":"entity","text":"Gene: shank3 has been classified as Red List (Low Evidence).","entity_name":"SHANK3","entity_type":"gene"},{"created":"2022-10-31T16:15:52.438736+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.700","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SHANK3 as Red List (low evidence)","entity_name":"SHANK3","entity_type":"gene"},{"created":"2022-10-31T16:15:52.428701+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.700","user_name":"Seb Lunke","item_type":"entity","text":"Gene: shank3 has been classified as Red List (Low Evidence).","entity_name":"SHANK3","entity_type":"gene"},{"created":"2022-10-31T16:15:34.473860+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.699","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SHANK3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Phelan-McDermid syndrome, MIM# 606232; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SHANK3","entity_type":"gene"},{"created":"2022-10-31T16:13:43.972224+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.699","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SH3TC2 as ready","entity_name":"SH3TC2","entity_type":"gene"},{"created":"2022-10-31T16:13:43.961828+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.699","user_name":"Seb Lunke","item_type":"entity","text":"Gene: sh3tc2 has been classified as Red List (Low Evidence).","entity_name":"SH3TC2","entity_type":"gene"},{"created":"2022-10-31T16:13:38.222928+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.699","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SH3TC2 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, type 4C MIM#601596","entity_name":"SH3TC2","entity_type":"gene"},{"created":"2022-10-31T16:13:06.701336+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.698","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SH3TC2 as Red List (low evidence)","entity_name":"SH3TC2","entity_type":"gene"},{"created":"2022-10-31T16:13:06.690858+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.698","user_name":"Seb Lunke","item_type":"entity","text":"Gene: sh3tc2 has been classified as Red List (Low Evidence).","entity_name":"SH3TC2","entity_type":"gene"},{"created":"2022-10-31T16:11:37.046192+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.697","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SH3TC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4C MIM#601596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SH3TC2","entity_type":"gene"},{"created":"2022-10-31T13:45:46.716276+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.430","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCNM1 were changed from Ciliopathy, SCNM1-related, MONDO:0005308 to Orofaciodigital syndrome XIX, MIM# 620107","entity_name":"SCNM1","entity_type":"gene"},{"created":"2022-10-31T13:45:43.311082+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.262","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCNM1 as ready","entity_name":"SCNM1","entity_type":"gene"},{"created":"2022-10-31T13:45:43.300919+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.262","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scnm1 has been classified as Green List (High Evidence).","entity_name":"SCNM1","entity_type":"gene"},{"created":"2022-10-31T13:45:34.394228+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.262","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SCNM1 as Green List (high evidence)","entity_name":"SCNM1","entity_type":"gene"},{"created":"2022-10-31T13:45:34.386208+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.262","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scnm1 has been classified as Green List (High Evidence).","entity_name":"SCNM1","entity_type":"gene"},{"created":"2022-10-31T13:45:24.419783+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.429","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SCNM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome XIX, MIM# 620107; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SCNM1","entity_type":"gene"},{"created":"2022-10-31T13:45:00.370018+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.261","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCNM1 was added\ngene: SCNM1 was added to Polydactyly. Sources: Literature\nMode of inheritance for gene: SCNM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCNM1 were set to 36084634\nPhenotypes for gene: SCNM1 were set to Orofaciodigital syndrome XIX, MIM# 620107\nReview for gene: SCNM1 was set to GREEN\nAdded comment: Iturrate (2022): three unrelated families (4 affected) w/ OFD, polydactyly, syndactyly and brachydactyly. All had biallelic variants (fs, missense, AluYc1 sequence insertion) and were consanguinous - the missense variant was shown to have a splice outcome \nSources: Literature","entity_name":"SCNM1","entity_type":"gene"},{"created":"2022-10-31T13:43:59.528848+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.37","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCNM1 were changed from Ciliopathy, SCNM1-related, MONDO:0005308 to Orofaciodigital syndrome XIX, MIM# 620107","entity_name":"SCNM1","entity_type":"gene"},{"created":"2022-10-31T13:43:24.459124+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.36","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SCNM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome XIX, MIM# 620107; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SCNM1","entity_type":"gene"},{"created":"2022-10-31T13:42:22.896749+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FRMD5 were changed from Neurodevelopmental disorder MONDO:0700092, FRMD5-related to Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094","entity_name":"FRMD5","entity_type":"gene"},{"created":"2022-10-31T13:42:05.459703+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FRMD5: Changed phenotypes: Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094","entity_name":"FRMD5","entity_type":"gene"},{"created":"2022-10-31T13:41:51.694838+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5008","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FRMD5 were changed from Neurodevelopmental disorder MONDO:0700092, FRMD5-related to Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094","entity_name":"FRMD5","entity_type":"gene"},{"created":"2022-10-31T13:41:21.885232+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5007","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FRMD5: Changed phenotypes: Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094","entity_name":"FRMD5","entity_type":"gene"},{"created":"2022-10-31T13:41:07.706888+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1795","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FRMD5 were changed from Neurodevelopmental disorder MONDO:0700092, FRMD5-related to Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094","entity_name":"FRMD5","entity_type":"gene"},{"created":"2022-10-31T13:40:31.334992+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1794","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FRMD5: Changed phenotypes: Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094","entity_name":"FRMD5","entity_type":"gene"},{"created":"2022-10-31T13:40:09.949610+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.429","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FRMD5 were changed from Neurodevelopmental disorder MONDO:0700092, FRMD5-related to Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094","entity_name":"FRMD5","entity_type":"gene"},{"created":"2022-10-31T13:39:45.143305+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.428","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FRMD5: Changed phenotypes: Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094","entity_name":"FRMD5","entity_type":"gene"},{"created":"2022-10-31T11:09:42.356957+11:00","panel_name":"Pneumothorax","panel_id":3960,"panel_version":"0.11","user_name":"Bryony Thompson","item_type":"panel","text":"Panel status changed from internal to public","entity_name":null,"entity_type":null},{"created":"2022-10-31T11:07:54.576733+11:00","panel_name":"Pneumothorax","panel_id":3960,"panel_version":"0.10","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: CFTR as ready","entity_name":"CFTR","entity_type":"gene"},{"created":"2022-10-31T11:07:54.564681+11:00","panel_name":"Pneumothorax","panel_id":3960,"panel_version":"0.10","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cftr has been classified as Green List (High Evidence).","entity_name":"CFTR","entity_type":"gene"},{"created":"2022-10-31T11:07:51.877117+11:00","panel_name":"Pneumothorax","panel_id":3960,"panel_version":"0.10","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CFTR as Green List (high evidence)","entity_name":"CFTR","entity_type":"gene"},{"created":"2022-10-31T11:07:51.862227+11:00","panel_name":"Pneumothorax","panel_id":3960,"panel_version":"0.10","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cftr has been classified as Green List (High Evidence).","entity_name":"CFTR","entity_type":"gene"},{"created":"2022-10-31T11:07:43.762580+11:00","panel_name":"Pneumothorax","panel_id":3960,"panel_version":"0.9","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CFTR was added\ngene: CFTR was added to Pneumothorax. Sources: Expert list\nMode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CFTR were set to 30681372; 17056865; 16100160; 2919902\nPhenotypes for gene: CFTR were set to Cystic fibrosis MONDO:0009061\nReview for gene: CFTR was set to GREEN\ngene: CFTR was marked as current diagnostic\nAdded comment: Has been reported as one of the lung finds of CF. The incidence of pneumothorax among patients with CF has been reported as ~2% in children and ~3% in all ages. \nSources: Expert list","entity_name":"CFTR","entity_type":"gene"},{"created":"2022-10-31T10:59:14.493893+11:00","panel_name":"Pneumothorax","panel_id":3960,"panel_version":"0.8","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FBLN5 as ready","entity_name":"FBLN5","entity_type":"gene"},{"created":"2022-10-31T10:59:14.482518+11:00","panel_name":"Pneumothorax","panel_id":3960,"panel_version":"0.8","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fbln5 has been classified as Red List (Low Evidence).","entity_name":"FBLN5","entity_type":"gene"},{"created":"2022-10-31T10:59:07.056470+11:00","panel_name":"Pneumothorax","panel_id":3960,"panel_version":"0.8","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FBLN5 was added\ngene: FBLN5 was added to Pneumothorax. Sources: Other\nMode of inheritance for gene: FBLN5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: FBLN5 were set to 21152794; 30681372\nPhenotypes for gene: FBLN5 were set to cutis laxa MONDO:0016175\nReview for gene: FBLN5 was set to RED\nAdded comment: Spontaneous pneumothorax has occasionally been reported in cutis laxa cases, but never as a presenting feature. A single cutis laxa case with biallelic variants and a previous history of spontaneous pneumothorax has been reported. \nSources: Other","entity_name":"FBLN5","entity_type":"gene"},{"created":"2022-10-31T10:55:34.448275+11:00","panel_name":"Pneumothorax","panel_id":3960,"panel_version":"0.7","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: LTBP4 as ready","entity_name":"LTBP4","entity_type":"gene"},{"created":"2022-10-31T10:55:34.439768+11:00","panel_name":"Pneumothorax","panel_id":3960,"panel_version":"0.7","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ltbp4 has been classified as Red List (Low Evidence).","entity_name":"LTBP4","entity_type":"gene"},{"created":"2022-10-31T10:55:29.210794+11:00","panel_name":"Pneumothorax","panel_id":3960,"panel_version":"0.7","user_name":"Bryony Thompson","item_type":"entity","text":"gene: LTBP4 was added\ngene: LTBP4 was added to Pneumothorax. Sources: Other\nMode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LTBP4 were set to 30681372; 35921570\nPhenotypes for gene: LTBP4 were set to Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies MONDO:0013170\nReview for gene: LTBP4 was set to RED\nAdded comment: Pneumothorax has occasionally been reported in cutis laxa cases, but never as a presenting feature. A single case of pneumothorax in a family with ARCL and biallelic variants has been reported in the literature. \nSources: Other","entity_name":"LTBP4","entity_type":"gene"},{"created":"2022-10-31T10:53:08.063913+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.163","user_name":"Krithika Murali","item_type":"entity","text":"gene: FZD2 was added\ngene: FZD2 was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: FZD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FZD2 were set to 25759469, 30455931, 29383834, 29230162,\nPhenotypes for gene: FZD2 were set to Omodysplasia 2, OMIM #164745\nReview for gene: FZD2 was set to GREEN\nAdded comment: Previous review by Chirag Patel Fetal anomalies panel 13.1.22\r\n\r\n---\r\n\r\nSkeletal dysplasia characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies. Overlaps with AD Robinow syndrome. Some detected antenatally with shortened humeri and abnormal genitalia. Suitable for fetal anomalies panel. \nSources: Literature","entity_name":"FZD2","entity_type":"gene"},{"created":"2022-10-31T10:52:42.246462+11:00","panel_name":"Pneumothorax","panel_id":3960,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ELN as ready","entity_name":"ELN","entity_type":"gene"},{"created":"2022-10-31T10:52:42.237615+11:00","panel_name":"Pneumothorax","panel_id":3960,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: eln has been classified as Red List (Low Evidence).","entity_name":"ELN","entity_type":"gene"},{"created":"2022-10-31T10:52:35.482117+11:00","panel_name":"Pneumothorax","panel_id":3960,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ELN was added\ngene: ELN was added to Pneumothorax. Sources: Other\nMode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ELN were set to 30416599; 30681372\nPhenotypes for gene: ELN were set to cutis laxa, autosomal dominant 1 MONDO:0007411\nMode of pathogenicity for gene: ELN was set to Other\nReview for gene: ELN was set to RED\nAdded comment: Pneumothorax has occasionally been reported in cutis laxa cases, but never as presenting feature. A single case was reported with the presentation of bilateral pneumothorax and mentioned a genetic diagnosis of ADCL, which implies an ELN pathogenic variant. \nSources: Other","entity_name":"ELN","entity_type":"gene"},{"created":"2022-10-31T10:47:46.103847+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.163","user_name":"Krithika Murali","item_type":"entity","text":"gene: FIG4 was added\ngene: FIG4 was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FIG4 were set to 31094135; 24088667; 23623387\nPhenotypes for gene: FIG4 were set to Yunis-Varon syndrome - MIM#216340\nReview for gene: FIG4 was set to GREEN\nAdded comment: Biallelic FIG4 variants are associated with an allelic disorder - Yunis-Varon syndrome - phenotypic skeletal dysplasia features include severe prenatal growth restriction, absent halluces and congenital fractures. \nSources: Literature","entity_name":"FIG4","entity_type":"gene"},{"created":"2022-10-31T10:05:07.745356+11:00","panel_name":"Pneumothorax","panel_id":3960,"panel_version":"0.5","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: CBS as ready","entity_name":"CBS","entity_type":"gene"},{"created":"2022-10-31T10:05:07.737067+11:00","panel_name":"Pneumothorax","panel_id":3960,"panel_version":"0.5","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cbs has been classified as Amber List (Moderate Evidence).","entity_name":"CBS","entity_type":"gene"}]}