{"count":220324,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=910","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=908","results":[{"created":"2022-03-28T14:27:00.094879+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12103","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: CACNA2D2 were set to ","entity_name":"CACNA2D2","entity_type":"gene"},{"created":"2022-03-28T14:26:59.563645+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12103","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: CACNA2D2 as ready","entity_name":"CACNA2D2","entity_type":"gene"},{"created":"2022-03-28T14:26:59.548599+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12103","user_name":"Ain Roesley","item_type":"entity","text":"Gene: cacna2d2 has been classified as Green List (High Evidence).","entity_name":"CACNA2D2","entity_type":"gene"},{"created":"2022-03-28T14:26:52.315298+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12103","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SCP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SCP2","entity_type":"gene"},{"created":"2022-03-28T14:26:29.891268+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12102","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SCP2 as Red List (low evidence)","entity_name":"SCP2","entity_type":"gene"},{"created":"2022-03-28T14:26:29.872950+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scp2 has been classified as Red List (Low Evidence).","entity_name":"SCP2","entity_type":"gene"},{"created":"2022-03-28T14:26:24.245976+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12101","user_name":"Ain Roesley","item_type":"entity","text":"edited their review of gene: CACNA2D2: Changed publications: 23339110, 24358150, 30410802, 29997391, 31402629, 11487633, 11756448, 4177347, 14660671, 15331424; Changed phenotypes: Cerebellar atrophy with seizures and variable developmental delay MIM#618501","entity_name":"CACNA2D2","entity_type":"gene"},{"created":"2022-03-28T14:26:08.195354+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12101","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: CACNA2D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CACNA2D2","entity_type":"gene"},{"created":"2022-03-28T14:25:44.568823+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12100","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: CACNA2D2: Rating: GREEN; Mode of pathogenicity: None; Publications: Cerebellar atrophy with seizures and variable developmental delay\tMIM#618501; Phenotypes: 23339110, 24358150, 30410802, 29997391, 31402629, 11487633, 11756448, 4177347, 14660671, 15331424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"CACNA2D2","entity_type":"gene"},{"created":"2022-03-28T14:24:21.114685+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1520","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCARB2 were changed from Progressive Myoclonus Epilepsy, MONDO:0020074; Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900 to Progressive Myoclonus Epilepsy, MONDO:0020074; Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900","entity_name":"SCARB2","entity_type":"gene"},{"created":"2022-03-28T14:23:41.773093+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12100","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: CACNA1F was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"CACNA1F","entity_type":"gene"},{"created":"2022-03-28T14:23:38.058515+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12099","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: CACNA1F as ready","entity_name":"CACNA1F","entity_type":"gene"},{"created":"2022-03-28T14:23:38.046446+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12099","user_name":"Ain Roesley","item_type":"entity","text":"Gene: cacna1f has been classified as Green List (High Evidence).","entity_name":"CACNA1F","entity_type":"gene"},{"created":"2022-03-28T14:23:28.080167+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1520","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCARB2 were changed from  to Progressive Myoclonus Epilepsy, MONDO:0020074; Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900","entity_name":"SCARB2","entity_type":"gene"},{"created":"2022-03-28T14:23:15.820904+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12099","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUBB1 as ready","entity_name":"TUBB1","entity_type":"gene"},{"created":"2022-03-28T14:23:15.809742+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12099","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tubb1 has been classified as Green List (High Evidence).","entity_name":"TUBB1","entity_type":"gene"},{"created":"2022-03-28T14:23:09.883554+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12099","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: CACNA1F were changed from  to Aland Island eye disease MIM#300600; Cone-rod dystrophy, X-linked, 3 MIM#300476; Night blindness, congenital stationary (incomplete), 2A, X-linked MIM#300071","entity_name":"CACNA1F","entity_type":"gene"},{"created":"2022-03-28T14:23:05.182274+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12099","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: CACNA1F were set to ","entity_name":"CACNA1F","entity_type":"gene"},{"created":"2022-03-28T14:22:55.644545+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12099","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TUBB1 were changed from  to Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM #613112; MONDO:0013141","entity_name":"TUBB1","entity_type":"gene"},{"created":"2022-03-28T14:22:55.628778+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12099","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: CACNA1F was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"CACNA1F","entity_type":"gene"},{"created":"2022-03-28T14:22:19.686156+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12098","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TUBB1 were set to ","entity_name":"TUBB1","entity_type":"gene"},{"created":"2022-03-28T14:22:14.944326+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12097","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: CACNA1F: Rating: GREEN; Mode of pathogenicity: None; Publications: 17525176, 16505158, 23776498, 24124559, 26075273, 25999675; Phenotypes: Aland Island eye disease MIM#300600, Cone-rod dystrophy, X-linked, 3 MIM#300476, Night blindness, congenital stationary (incomplete), 2A, X-linked MIM#300071; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes","entity_name":"CACNA1F","entity_type":"gene"},{"created":"2022-03-28T14:21:54.052837+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1519","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SCARB2 were set to ","entity_name":"SCARB2","entity_type":"gene"},{"created":"2022-03-28T14:21:44.374186+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12097","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TUBB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TUBB1","entity_type":"gene"},{"created":"2022-03-28T14:21:21.665990+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12096","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TUBB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM #613112, MONDO:0013141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TUBB1","entity_type":"gene"},{"created":"2022-03-28T14:19:37.815996+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1518","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SCARB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SCARB2","entity_type":"gene"},{"created":"2022-03-28T14:19:37.176909+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12096","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCARB2 as ready","entity_name":"SCARB2","entity_type":"gene"},{"created":"2022-03-28T14:19:37.166191+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12096","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scarb2 has been classified as Green List (High Evidence).","entity_name":"SCARB2","entity_type":"gene"},{"created":"2022-03-28T14:19:24.109438+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12096","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCARB2 were changed from  to Progressive Myoclonus Epilepsy, MONDO:0020074; Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900","entity_name":"SCARB2","entity_type":"gene"},{"created":"2022-03-28T14:18:59.201883+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1517","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SCARB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18308289, 18424452, 23659519, 19847901, 18022370, 19933215; Phenotypes: Progressive Myoclonus Epilepsy, MONDO:0020074, Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SCARB2","entity_type":"gene"},{"created":"2022-03-28T14:18:02.450277+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12095","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SCARB2 were set to ","entity_name":"SCARB2","entity_type":"gene"},{"created":"2022-03-28T14:17:38.035197+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12094","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SCARB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SCARB2","entity_type":"gene"},{"created":"2022-03-28T14:16:52.844884+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12093","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SASH1 as ready","entity_name":"SASH1","entity_type":"gene"},{"created":"2022-03-28T14:16:52.834928+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12093","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sash1 has been classified as Green List (High Evidence).","entity_name":"SASH1","entity_type":"gene"},{"created":"2022-03-28T14:16:41.498157+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12093","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SASH1 were changed from  to Dyschromatosis universalis hereditaria 1, MIM #127500; familial generalized lentiginosis MONDO:007891","entity_name":"SASH1","entity_type":"gene"},{"created":"2022-03-28T14:16:22.526869+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12092","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SASH1 were set to ","entity_name":"SASH1","entity_type":"gene"},{"created":"2022-03-28T14:16:01.691063+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12091","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SASH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SASH1","entity_type":"gene"},{"created":"2022-03-28T14:15:36.143289+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12090","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SASH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyschromatosis universalis hereditaria 1, MIM# 127500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SASH1","entity_type":"gene"},{"created":"2022-03-28T14:12:11.696536+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12090","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: CABP2 as ready","entity_name":"CABP2","entity_type":"gene"},{"created":"2022-03-28T14:12:11.687292+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12090","user_name":"Ain Roesley","item_type":"entity","text":"Gene: cabp2 has been classified as Green List (High Evidence).","entity_name":"CABP2","entity_type":"gene"},{"created":"2022-03-28T14:12:02.856524+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.749","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TUFM was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TUFM","entity_type":"gene"},{"created":"2022-03-28T14:11:38.656956+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12090","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUBB4B as ready","entity_name":"TUBB4B","entity_type":"gene"},{"created":"2022-03-28T14:11:38.646458+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12090","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tubb4b has been classified as Green List (High Evidence).","entity_name":"TUBB4B","entity_type":"gene"},{"created":"2022-03-28T14:11:34.080562+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12090","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: CABP2 were changed from  to Deafness, autosomal recessive 93, MIM# 614899","entity_name":"CABP2","entity_type":"gene"},{"created":"2022-03-28T14:11:18.338162+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12090","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: CABP2 were set to ","entity_name":"CABP2","entity_type":"gene"},{"created":"2022-03-28T14:11:08.475331+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12090","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TUBB4B were changed from  to Leber congenital amaurosis with early onset deafness, LCAEOD, OMIM #617879; MONDO:0060650","entity_name":"TUBB4B","entity_type":"gene"},{"created":"2022-03-28T14:11:07.230109+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12090","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: CABP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CABP2","entity_type":"gene"},{"created":"2022-03-28T14:10:46.660840+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12089","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: CABP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22981119, 31661684, 28183797; Phenotypes: Deafness, autosomal recessive 93, MIM# 614899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"CABP2","entity_type":"gene"},{"created":"2022-03-28T14:10:40.627059+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12089","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TUBB4B were set to ","entity_name":"TUBB4B","entity_type":"gene"},{"created":"2022-03-28T14:10:14.202770+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12088","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TUBB4B: Rating: GREEN; Mode of pathogenicity: None; Publications: 35240325; Phenotypes: Leber congenital amaurosis with early onset deafness, LCAEOD, OMIM #617879, MONDO:0060650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TUBB4B","entity_type":"gene"},{"created":"2022-03-28T14:09:49.513092+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12088","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: CA2 were set to 34624559; 33555497; 12566520; 7627193","entity_name":"CA2","entity_type":"gene"},{"created":"2022-03-28T14:08:32.890371+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12087","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TUBB4B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TUBB4B","entity_type":"gene"},{"created":"2022-03-28T14:07:22.927852+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.748","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TUFM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TUFM","entity_type":"gene"},{"created":"2022-03-28T14:07:21.069796+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12086","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUFM as ready","entity_name":"TUFM","entity_type":"gene"},{"created":"2022-03-28T14:07:21.057431+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12086","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tufm has been classified as Green List (High Evidence).","entity_name":"TUFM","entity_type":"gene"},{"created":"2022-03-28T14:06:38.111375+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.747","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132884, 26741492, 17160893, 30903008; Phenotypes: Combined oxidative phosphorylation deficiency 4, OMIM #610678, MONDO:0012534; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TUFM","entity_type":"gene"},{"created":"2022-03-28T14:06:31.583227+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12086","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TUFM were changed from  to Combined oxidative phosphorylation deficiency 4, OMIM #610678; MONDO:0012534","entity_name":"TUFM","entity_type":"gene"},{"created":"2022-03-28T14:05:55.051734+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12085","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TUFM were set to ","entity_name":"TUFM","entity_type":"gene"},{"created":"2022-03-28T14:05:06.746346+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12084","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TUFM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TUFM","entity_type":"gene"},{"created":"2022-03-28T14:04:58.506519+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12084","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: CA2 were set to ","entity_name":"CA2","entity_type":"gene"},{"created":"2022-03-28T14:04:54.070756+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12083","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: CA2 as ready","entity_name":"CA2","entity_type":"gene"},{"created":"2022-03-28T14:04:54.049447+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12083","user_name":"Ain Roesley","item_type":"entity","text":"Gene: ca2 has been classified as Green List (High Evidence).","entity_name":"CA2","entity_type":"gene"},{"created":"2022-03-28T14:04:35.520378+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12083","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: CA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34624559, 33555497, 12566520, 7627193; Phenotypes: Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"CA2","entity_type":"gene"},{"created":"2022-03-28T14:00:26.355436+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12083","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NR2F2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NR2F2","entity_type":"gene"},{"created":"2022-03-28T13:59:45.033304+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12082","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: CA12 as ready","entity_name":"CA12","entity_type":"gene"},{"created":"2022-03-28T13:59:45.009698+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12082","user_name":"Ain Roesley","item_type":"entity","text":"Gene: ca12 has been classified as Green List (High Evidence).","entity_name":"CA12","entity_type":"gene"},{"created":"2022-03-28T13:59:39.652112+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12082","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: CA12 were changed from  to Hyperchlorhidrosis, isolated MIM#143860","entity_name":"CA12","entity_type":"gene"},{"created":"2022-03-28T13:59:32.292419+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12081","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: CA12 were set to ","entity_name":"CA12","entity_type":"gene"},{"created":"2022-03-28T13:59:27.054072+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12081","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: CA12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CA12","entity_type":"gene"},{"created":"2022-03-28T13:58:31.707892+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12080","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NR2E3 as ready","entity_name":"NR2E3","entity_type":"gene"},{"created":"2022-03-28T13:58:31.696885+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12080","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nr2e3 has been classified as Green List (High Evidence).","entity_name":"NR2E3","entity_type":"gene"},{"created":"2022-03-28T13:58:17.718479+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12080","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: CA12: Rating: GREEN; Mode of pathogenicity: None; Publications: 21035102, 21184099, 26911677; Phenotypes: Hyperchlorhidrosis, isolated MIM#143860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"CA12","entity_type":"gene"},{"created":"2022-03-28T13:58:13.280539+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12080","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NR2E3 were changed from  to Retinitis pigmentosa 37 - MIM#611131; Enhanced S-cone syndrome - MIM#268100; Goldmann-Favre syndrome - MONDO#0100289; retinal dystrophy","entity_name":"NR2E3","entity_type":"gene"},{"created":"2022-03-28T13:57:53.681397+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12079","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NR2E3 were set to ","entity_name":"NR2E3","entity_type":"gene"},{"created":"2022-03-28T13:57:30.577551+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12078","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NR2E3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NR2E3","entity_type":"gene"},{"created":"2022-03-28T13:56:44.260351+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12077","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NR0B2 as ready","entity_name":"NR0B2","entity_type":"gene"},{"created":"2022-03-28T13:56:44.250924+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12077","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nr0b2 has been classified as Red List (Low Evidence).","entity_name":"NR0B2","entity_type":"gene"},{"created":"2022-03-28T13:56:33.093828+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12077","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NR0B2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NR0B2","entity_type":"gene"},{"created":"2022-03-28T13:56:14.282097+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12076","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NR0B2 were changed from  to Obesity, mild, early-onset, MIM#\t601665","entity_name":"NR0B2","entity_type":"gene"},{"created":"2022-03-28T13:55:35.842520+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12075","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NR0B2 as Red List (low evidence)","entity_name":"NR0B2","entity_type":"gene"},{"created":"2022-03-28T13:55:35.833270+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12075","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nr0b2 has been classified as Red List (Low Evidence).","entity_name":"NR0B2","entity_type":"gene"},{"created":"2022-03-28T13:54:55.133016+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12074","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NPSR1 as ready","entity_name":"NPSR1","entity_type":"gene"},{"created":"2022-03-28T13:54:55.116790+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12074","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: npsr1 has been classified as Red List (Low Evidence).","entity_name":"NPSR1","entity_type":"gene"},{"created":"2022-03-28T13:54:47.293919+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12074","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NPSR1 were changed from  to {Asthma, susceptibility to, 2}\t608584","entity_name":"NPSR1","entity_type":"gene"},{"created":"2022-03-28T13:51:41.731627+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12073","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NPSR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NPSR1","entity_type":"gene"},{"created":"2022-03-28T13:51:22.565625+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12072","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NPSR1 as Red List (low evidence)","entity_name":"NPSR1","entity_type":"gene"},{"created":"2022-03-28T13:51:22.555131+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12072","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: npsr1 has been classified as Red List (Low Evidence).","entity_name":"NPSR1","entity_type":"gene"},{"created":"2022-03-28T13:46:06.666757+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.459","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACER3 as ready","entity_name":"ACER3","entity_type":"gene"},{"created":"2022-03-28T13:46:06.655636+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.459","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acer3 has been classified as Green List (High Evidence).","entity_name":"ACER3","entity_type":"gene"},{"created":"2022-03-28T13:46:01.211886+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.459","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ACER3 as Green List (high evidence)","entity_name":"ACER3","entity_type":"gene"},{"created":"2022-03-28T13:46:01.201763+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.459","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acer3 has been classified as Green List (High Evidence).","entity_name":"ACER3","entity_type":"gene"},{"created":"2022-03-28T13:45:30.843130+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.458","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACER3 was added\ngene: ACER3 was added to Regression. Sources: Expert Review\nMode of inheritance for gene: ACER3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACER3 were set to 32816236; 26792856; 34281620\nPhenotypes for gene: ACER3 were set to Leukodystrophy, progressive, early childhood-onset, MIM:617762\nReview for gene: ACER3 was set to GREEN\nAdded comment: Five unrelated families reported, including clinical presentations with regression following a period of normal development. \nSources: Expert Review","entity_name":"ACER3","entity_type":"gene"},{"created":"2022-03-28T13:43:50.676073+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1517","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: LIAS were changed from Hyperglycinemia, lactic acidosis, and seizures, MIM# 614462 to Hyperglycinemia, lactic acidosis, and seizures, MIM# 614462","entity_name":"LIAS","entity_type":"gene"},{"created":"2022-03-28T13:43:27.745145+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1517","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: LIAS as ready","entity_name":"LIAS","entity_type":"gene"},{"created":"2022-03-28T13:43:27.729872+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1517","user_name":"Alison Yeung","item_type":"entity","text":"Gene: lias has been classified as Green List (High Evidence).","entity_name":"LIAS","entity_type":"gene"},{"created":"2022-03-28T13:43:24.243563+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1517","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: LIAS were changed from Hyperglycinemia, lactic acidosis, and seizures, MIM# 614462 to Hyperglycinemia, lactic acidosis, and seizures, MIM# 614462","entity_name":"LIAS","entity_type":"gene"},{"created":"2022-03-28T13:43:10.551400+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12071","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ACER3: Added comment: Additional publication (Dehvani et al., 2021; PMID: 34281620) detailing three further unrelated cases, each with novel homozygous variants in the ACER3 gene. All individuals displayed features of progressive leukoencephalopathy, developmental delay, hypotonia, appendicular spasticity, and dystonia. Early development is apparently normal followed by symptoms of stagnation and neurologic regression (onset within first year of life).; Changed rating: GREEN; Changed publications: 32816236, 26792856, 34281620; Changed phenotypes: Leukodystrophy, progressive, early childhood-onset, MIM:617762","entity_name":"ACER3","entity_type":"gene"},{"created":"2022-03-28T13:42:53.203954+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1517","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: LIAS were changed from  to Hyperglycinemia, lactic acidosis, and seizures, MIM# 614462","entity_name":"LIAS","entity_type":"gene"},{"created":"2022-03-28T13:42:23.593104+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1516","user_name":"Alison Yeung","item_type":"entity","text":"Publications for gene: LIAS were set to 22152680; 24334290; 26108146","entity_name":"LIAS","entity_type":"gene"},{"created":"2022-03-28T13:41:47.605013+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1516","user_name":"Alison Yeung","item_type":"entity","text":"Mode of inheritance for gene: LIAS was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LIAS","entity_type":"gene"}]}