{"count":220790,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=740","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=738","results":[{"created":"2022-09-27T16:55:38.014322+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.254","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAD2L2 as Red List (low evidence)","entity_name":"MAD2L2","entity_type":"gene"},{"created":"2022-09-27T16:55:37.991437+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.254","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mad2l2 has been classified as Red List (Low Evidence).","entity_name":"MAD2L2","entity_type":"gene"},{"created":"2022-09-27T16:53:54.639345+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.155","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: LYST.","entity_name":"LYST","entity_type":"gene"},{"created":"2022-09-27T16:53:14.984575+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.343","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: LYST.","entity_name":"LYST","entity_type":"gene"},{"created":"2022-09-27T16:52:37.899773+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: LYST.","entity_name":"LYST","entity_type":"gene"},{"created":"2022-09-27T16:52:15.609772+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.253","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: LYST.","entity_name":"LYST","entity_type":"gene"},{"created":"2022-09-27T16:37:54.088779+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.253","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LTBP4 as ready","entity_name":"LTBP4","entity_type":"gene"},{"created":"2022-09-27T16:37:54.063771+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.253","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ltbp4 has been classified as Red List (Low Evidence).","entity_name":"LTBP4","entity_type":"gene"},{"created":"2022-09-27T16:37:45.515802+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.253","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LTBP4 were changed from Cutis laxa, autosomal recessive, type IC to Cutis laxa, autosomal recessive, type IC (MIM# 613177)","entity_name":"LTBP4","entity_type":"gene"},{"created":"2022-09-27T16:37:31.520001+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.252","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LTBP4 as Red List (low evidence)","entity_name":"LTBP4","entity_type":"gene"},{"created":"2022-09-27T16:37:31.509669+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.252","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ltbp4 has been classified as Red List (Low Evidence).","entity_name":"LTBP4","entity_type":"gene"},{"created":"2022-09-27T16:37:17.748790+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.251","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LTBP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IC (MIM# 613177); Mode of inheritance: None","entity_name":"LTBP4","entity_type":"gene"},{"created":"2022-09-27T16:29:15.592733+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.251","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRTOMT as ready","entity_name":"LRTOMT","entity_type":"gene"},{"created":"2022-09-27T16:29:15.580715+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.251","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrtomt has been classified as Green List (High Evidence).","entity_name":"LRTOMT","entity_type":"gene"},{"created":"2022-09-27T16:29:11.523764+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.251","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LRTOMT were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 63, MIM# 611451","entity_name":"LRTOMT","entity_type":"gene"},{"created":"2022-09-27T16:28:20.744553+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.250","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRRC6 as ready","entity_name":"LRRC6","entity_type":"gene"},{"created":"2022-09-27T16:28:20.735383+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.250","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrrc6 has been classified as Red List (Low Evidence).","entity_name":"LRRC6","entity_type":"gene"},{"created":"2022-09-27T16:28:16.194341+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.250","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LRRC6 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 19, MIM# 614935","entity_name":"LRRC6","entity_type":"gene"},{"created":"2022-09-27T16:28:02.913418+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LRRC6 as Red List (low evidence)","entity_name":"LRRC6","entity_type":"gene"},{"created":"2022-09-27T16:28:02.903485+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrrc6 has been classified as Red List (Low Evidence).","entity_name":"LRRC6","entity_type":"gene"},{"created":"2022-09-27T16:27:50.305399+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.248","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LRRC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 19, MIM# 614935; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRRC6","entity_type":"gene"},{"created":"2022-09-27T16:27:35.622698+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.248","user_name":"David Amor","item_type":"entity","text":"reviewed gene: MCOLN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucolipidosis IV; Mode of inheritance: None","entity_name":"MCOLN1","entity_type":"gene"},{"created":"2022-09-27T16:26:30.837446+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.248","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRSAM1 as ready","entity_name":"LRSAM1","entity_type":"gene"},{"created":"2022-09-27T16:26:30.828742+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.248","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrsam1 has been classified as Red List (Low Evidence).","entity_name":"LRSAM1","entity_type":"gene"},{"created":"2022-09-27T16:26:26.170498+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.248","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LRSAM1 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436","entity_name":"LRSAM1","entity_type":"gene"},{"created":"2022-09-27T16:26:16.228606+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.247","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LRSAM1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"LRSAM1","entity_type":"gene"},{"created":"2022-09-27T16:26:05.492746+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.246","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LRSAM1 as Red List (low evidence)","entity_name":"LRSAM1","entity_type":"gene"},{"created":"2022-09-27T16:26:05.476931+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.246","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrsam1 has been classified as Red List (Low Evidence).","entity_name":"LRSAM1","entity_type":"gene"},{"created":"2022-09-27T16:25:09.457611+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.245","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRPPRC as ready","entity_name":"LRPPRC","entity_type":"gene"},{"created":"2022-09-27T16:25:09.443485+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.245","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrpprc has been classified as Red List (Low Evidence).","entity_name":"LRPPRC","entity_type":"gene"},{"created":"2022-09-27T16:25:04.894705+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.245","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LRPPRC were changed from Leigh syndrome to Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111","entity_name":"LRPPRC","entity_type":"gene"},{"created":"2022-09-27T16:24:52.817503+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.244","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LRPPRC as Red List (low evidence)","entity_name":"LRPPRC","entity_type":"gene"},{"created":"2022-09-27T16:24:52.809314+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.244","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrpprc has been classified as Red List (Low Evidence).","entity_name":"LRPPRC","entity_type":"gene"},{"created":"2022-09-27T16:24:40.750757+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LRPPRC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRPPRC","entity_type":"gene"},{"created":"2022-09-27T16:23:13.414751+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRP5 as ready","entity_name":"LRP5","entity_type":"gene"},{"created":"2022-09-27T16:23:13.402088+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrp5 has been classified as Green List (High Evidence).","entity_name":"LRP5","entity_type":"gene"},{"created":"2022-09-27T16:23:07.327219+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LRP5 were changed from Osteopetrosis, autosomal dominant; Osteoporosis-pseudoglioma syndrome to Osteoporosis-pseudoglioma syndrome, MIM# 259770","entity_name":"LRP5","entity_type":"gene"},{"created":"2022-09-27T16:22:51.784967+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.242","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LRP5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRP5","entity_type":"gene"},{"created":"2022-09-27T16:22:29.345091+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.241","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: LRP5.","entity_name":"LRP5","entity_type":"gene"},{"created":"2022-09-27T16:22:17.464519+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.241","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteoporosis-pseudoglioma syndrome, MIM# 259770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRP5","entity_type":"gene"},{"created":"2022-09-27T16:21:49.014239+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.241","user_name":"David Amor","item_type":"entity","text":"changed review comment from: Gene-disease association: strong but rare.  \r\n\r\nOnset: birth\r\n\r\nTreatment: clotting factor supplementation, However only reported to cause mild-moderate bleeding tendency so consider excluding?; to: Gene-disease association: strong but rare.  \r\n\r\nOnset: birth\r\n\r\nTreatment: clotting factor supplementation, However only reported to cause mild-moderate bleeding tendency so consider excluding?","entity_name":"MCFD2","entity_type":"gene"},{"created":"2022-09-27T16:20:37.358970+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.241","user_name":"David Amor","item_type":"entity","text":"reviewed gene: MCFD2: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Combine FV and FVIII deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MCFD2","entity_type":"gene"},{"created":"2022-09-27T16:19:04.996379+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.241","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRP4 as ready","entity_name":"LRP4","entity_type":"gene"},{"created":"2022-09-27T16:19:04.987827+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.241","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrp4 has been classified as Green List (High Evidence).","entity_name":"LRP4","entity_type":"gene"},{"created":"2022-09-27T16:19:00.934911+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.241","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LRP4 were changed from Cenani-Lenz syndactyly syndrome; Myasthenic syndrome, congenital, 17 , MIM#616304 to Myasthenic syndrome, congenital, 17 , MIM#616304","entity_name":"LRP4","entity_type":"gene"},{"created":"2022-09-27T16:18:41.827696+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.240","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: LRP4.","entity_name":"LRP4","entity_type":"gene"},{"created":"2022-09-27T16:18:10.282980+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.240","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LRP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 17, MIM# 616304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRP4","entity_type":"gene"},{"created":"2022-09-27T16:13:25.400304+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.240","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRP2 as ready","entity_name":"LRP2","entity_type":"gene"},{"created":"2022-09-27T16:13:25.392008+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.240","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrp2 has been classified as Red List (Low Evidence).","entity_name":"LRP2","entity_type":"gene"},{"created":"2022-09-27T16:13:14.197112+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.240","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LRP2 were changed from Donnai-Barrow syndrome to Donnai-Barrow syndrome, MIM#222448","entity_name":"LRP2","entity_type":"gene"},{"created":"2022-09-27T16:13:01.379898+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.239","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LRP2 as Red List (low evidence)","entity_name":"LRP2","entity_type":"gene"},{"created":"2022-09-27T16:13:01.370829+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.239","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrp2 has been classified as Red List (Low Evidence).","entity_name":"LRP2","entity_type":"gene"},{"created":"2022-09-27T16:12:49.115557+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.238","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LRP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Donnai-Barrow syndrome, MIM#222448; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRP2","entity_type":"gene"},{"created":"2022-09-27T16:11:52.150961+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.238","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LOXHD1 as ready","entity_name":"LOXHD1","entity_type":"gene"},{"created":"2022-09-27T16:11:52.142116+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.238","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: loxhd1 has been classified as Green List (High Evidence).","entity_name":"LOXHD1","entity_type":"gene"},{"created":"2022-09-27T16:11:48.092342+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.238","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LOXHD1 were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 77, MIM# 613079","entity_name":"LOXHD1","entity_type":"gene"},{"created":"2022-09-27T16:11:34.099793+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.237","user_name":"David Amor","item_type":"entity","text":"reviewed gene: MC2R: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial glucocorticoid deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MC2R","entity_type":"gene"},{"created":"2022-09-27T16:11:30.389372+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.237","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LOXHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 77, MIM# 613079; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LOXHD1","entity_type":"gene"},{"created":"2022-09-27T16:07:07.890960+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.237","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LMX1B as ready","entity_name":"LMX1B","entity_type":"gene"},{"created":"2022-09-27T16:07:07.876914+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.237","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lmx1b has been classified as Red List (Low Evidence).","entity_name":"LMX1B","entity_type":"gene"},{"created":"2022-09-27T16:07:02.476361+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.237","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LMX1B were changed from Nail patella syndrome to Nail-patella syndrome, MIM# 161200, MONDO:0008061","entity_name":"LMX1B","entity_type":"gene"},{"created":"2022-09-27T16:06:49.400126+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.236","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LMX1B as Red List (low evidence)","entity_name":"LMX1B","entity_type":"gene"},{"created":"2022-09-27T16:06:49.391620+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.236","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lmx1b has been classified as Red List (Low Evidence).","entity_name":"LMX1B","entity_type":"gene"},{"created":"2022-09-27T16:06:37.949288+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.235","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LMX1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nail-patella syndrome, MIM# 161200, MONDO:0008061; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LMX1B","entity_type":"gene"},{"created":"2022-09-27T16:04:46.642866+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.235","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LMOD3 as ready","entity_name":"LMOD3","entity_type":"gene"},{"created":"2022-09-27T16:04:46.630018+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.235","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lmod3 has been classified as Red List (Low Evidence).","entity_name":"LMOD3","entity_type":"gene"},{"created":"2022-09-27T16:04:41.677434+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.235","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LMOD3 were changed from Nemaline myopathy to Nemaline myopathy 10, MIM# 616165","entity_name":"LMOD3","entity_type":"gene"},{"created":"2022-09-27T16:04:29.213546+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.234","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LMOD3 as Red List (low evidence)","entity_name":"LMOD3","entity_type":"gene"},{"created":"2022-09-27T16:04:29.202874+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.234","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lmod3 has been classified as Red List (Low Evidence).","entity_name":"LMOD3","entity_type":"gene"},{"created":"2022-09-27T16:04:12.888107+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.233","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LMOD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nemaline myopathy 10, MIM# 616165; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LMOD3","entity_type":"gene"},{"created":"2022-09-27T16:03:00.971805+10:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: LMBRD1.","entity_name":"LMBRD1","entity_type":"gene"},{"created":"2022-09-27T16:02:38.313183+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4951","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: LMBRD1.","entity_name":"LMBRD1","entity_type":"gene"},{"created":"2022-09-27T16:02:06.724041+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.233","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LMBRD1 as ready","entity_name":"LMBRD1","entity_type":"gene"},{"created":"2022-09-27T16:02:06.713214+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.233","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lmbrd1 has been classified as Green List (High Evidence).","entity_name":"LMBRD1","entity_type":"gene"},{"created":"2022-09-27T16:01:48.642907+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.343","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: LMBRD1.","entity_name":"LMBRD1","entity_type":"gene"},{"created":"2022-09-27T16:01:33.028290+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.233","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: LMBRD1.","entity_name":"LMBRD1","entity_type":"gene"},{"created":"2022-09-27T16:01:21.595733+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.233","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LMBRD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria and homocystinuria, cblF type MIM# 277380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LMBRD1","entity_type":"gene"},{"created":"2022-09-27T15:59:43.679422+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.233","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LITAF as ready","entity_name":"LITAF","entity_type":"gene"},{"created":"2022-09-27T15:59:43.670482+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.233","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: litaf has been classified as Red List (Low Evidence).","entity_name":"LITAF","entity_type":"gene"},{"created":"2022-09-27T15:59:39.583742+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.233","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LITAF were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, type 1C, MIM# 601098","entity_name":"LITAF","entity_type":"gene"},{"created":"2022-09-27T15:59:17.575388+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.232","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: LITAF was changed from  to None","entity_name":"LITAF","entity_type":"gene"},{"created":"2022-09-27T15:59:05.667014+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.231","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LITAF as Red List (low evidence)","entity_name":"LITAF","entity_type":"gene"},{"created":"2022-09-27T15:59:05.659278+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.231","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: litaf has been classified as Red List (Low Evidence).","entity_name":"LITAF","entity_type":"gene"},{"created":"2022-09-27T15:58:24.662062+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.230","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LIPA as ready","entity_name":"LIPA","entity_type":"gene"},{"created":"2022-09-27T15:58:24.645434+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.230","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lipa has been classified as Green List (High Evidence).","entity_name":"LIPA","entity_type":"gene"},{"created":"2022-09-27T15:58:19.826190+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.230","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LIPA were changed from Wolman syndrome, MIM#278000 to Wolman syndrome, MIM#278000","entity_name":"LIPA","entity_type":"gene"},{"created":"2022-09-27T15:57:42.482681+10:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"1.19","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: LIPA.","entity_name":"LIPA","entity_type":"gene"},{"created":"2022-09-27T15:57:11.984606+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: LIPA.","entity_name":"LIPA","entity_type":"gene"},{"created":"2022-09-27T15:56:22.031130+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.343","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: LIPA.","entity_name":"LIPA","entity_type":"gene"},{"created":"2022-09-27T15:56:11.754006+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.229","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: LIPA.","entity_name":"LIPA","entity_type":"gene"},{"created":"2022-09-27T15:56:01.151256+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.229","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LIPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholesteryl ester storage disease, MIM# 278000, Wolman disease, MIM# 278000, Lysosomal acid lipase deficiency, MONDO:0010204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LIPA","entity_type":"gene"},{"created":"2022-09-27T15:53:50.713433+10:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.44","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: LIG4.","entity_name":"LIG4","entity_type":"gene"},{"created":"2022-09-27T15:52:27.788850+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.26","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: LIG4.","entity_name":"LIG4","entity_type":"gene"},{"created":"2022-09-27T15:52:02.928234+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.229","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LIG4 as ready","entity_name":"LIG4","entity_type":"gene"},{"created":"2022-09-27T15:52:02.918559+10:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.229","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lig4 has been classified as Green List (High Evidence).","entity_name":"LIG4","entity_type":"gene"},{"created":"2022-09-27T14:44:04.149277+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.121","user_name":"Krithika Murali","item_type":"entity","text":"gene: SHOX was added\ngene: SHOX was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature\nMode of inheritance for gene: SHOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SHOX were set to 29330548\nPhenotypes for gene: SHOX were set to Leri-Weill dyschondrosteosis, MIM# 127300; Langer mesomelic dysplasia, MIM#249700\nReview for gene: SHOX was set to GREEN\nAdded comment: Deletions common. Pseudoautosomal dominant inheritance as SHOX gene located on the pseudoautosomal region of X and Y chromosome.\r\n\r\nPMID 29330548 report 5 unrelated infants with antenatally detected isolated short long bones attributable to SHOX haploinsufficiency. \nSources: Expert list, Literature","entity_name":"SHOX","entity_type":"gene"},{"created":"2022-09-27T14:29:05.195715+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.121","user_name":"Krithika Murali","item_type":"entity","text":"gene: SLC10A7 was added\ngene: SLC10A7 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list\nMode of inheritance for gene: SLC10A7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC10A7 were set to 30082715\nPhenotypes for gene: SLC10A7 were set to Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis - MIM#618363\nReview for gene: SLC10A7 was set to GREEN\nAdded comment: Prenatal diagnosis of short long bones reported in addition to IUGR disproportionately impacting length. \nSources: Literature, Expert list","entity_name":"SLC10A7","entity_type":"gene"},{"created":"2022-09-27T14:09:34.102634+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.121","user_name":"Krithika Murali","item_type":"entity","text":"gene: SLC29A3 was added\ngene: SLC29A3 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list\nMode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC29A3 were set to 16155931\nPhenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome - MIM#602782\nReview for gene: SLC29A3 was set to GREEN\nAdded comment: Intrauterine fractures of long bones and clavicles described. \nSources: Literature, Expert list","entity_name":"SLC29A3","entity_type":"gene"},{"created":"2022-09-27T13:49:04.096415+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.121","user_name":"Krithika Murali","item_type":"entity","text":"gene: SMAD4 was added\ngene: SMAD4 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature\nMode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMAD4 were set to 28406602\nPhenotypes for gene: SMAD4 were set to Myhre syndrome - OMIM#139210; MONDO:0007688\nReview for gene: SMAD4 was set to GREEN\nAdded comment: Myhre syndrome (variants involving codons 496 and 500) can be associated with IUGR and short long bones \nSources: Expert list, Literature","entity_name":"SMAD4","entity_type":"gene"},{"created":"2022-09-27T13:40:27.610939+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.121","user_name":"Krithika Murali","item_type":"entity","text":"gene: SMARCAL1 was added\ngene: SMARCAL1 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature\nMode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMARCAL1 were set to 15523612; 20301550; 20301550; 17089404; 20036229\nPhenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia (MIM#242900)\nReview for gene: SMARCAL1 was set to GREEN\nAdded comment: IUGR with disproportionately short trunk and neck described. \nSources: Expert list, Literature","entity_name":"SMARCAL1","entity_type":"gene"}]}