{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=366","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=364","results":[{"created":"2024-10-11T18:35:20.740883+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.417","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDUFA1 were changed from Mitochondrial complex I deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 12 MIM#301020","entity_name":"NDUFA1","entity_type":"gene"},{"created":"2024-10-11T18:34:32.703609+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.416","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDRG1 as ready","entity_name":"NDRG1","entity_type":"gene"},{"created":"2024-10-11T18:34:32.683101+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.416","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndrg1 has been classified as Green List (High Evidence).","entity_name":"NDRG1","entity_type":"gene"},{"created":"2024-10-11T18:34:28.868304+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.416","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDRG1 were changed from Charcot-Marie-Tooth disease, type 4D, 601455 (3) to Charcot-Marie-Tooth disease, type 4D MIM#601455","entity_name":"NDRG1","entity_type":"gene"},{"created":"2024-10-11T18:33:16.747218+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.415","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MTMR2 as ready","entity_name":"MTMR2","entity_type":"gene"},{"created":"2024-10-11T18:33:16.731991+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.415","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mtmr2 has been classified as Green List (High Evidence).","entity_name":"MTMR2","entity_type":"gene"},{"created":"2024-10-11T18:33:13.450839+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.415","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MTMR2 were changed from Charcot-Marie-Tooth disease, type 4B1, 601382 (3) to Charcot-Marie-Tooth disease, type 4B1, MIM#601382","entity_name":"MTMR2","entity_type":"gene"},{"created":"2024-10-11T18:32:34.386171+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.414","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MPDZ as ready","entity_name":"MPDZ","entity_type":"gene"},{"created":"2024-10-11T18:32:34.366622+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.414","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mpdz has been classified as Green List (High Evidence).","entity_name":"MPDZ","entity_type":"gene"},{"created":"2024-10-11T18:32:31.187470+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.414","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MPDZ were changed from Hydrocephalus, nonsyndromic, autosomal recessive 2, 615219 (3) to Hydrocephalus, congenital, 2, with or without brain or eye anomalies MIM#615219","entity_name":"MPDZ","entity_type":"gene"},{"created":"2024-10-11T18:31:15.079493+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.413","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MLYCD as ready","entity_name":"MLYCD","entity_type":"gene"},{"created":"2024-10-11T18:31:15.054090+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.413","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mlycd has been classified as Green List (High Evidence).","entity_name":"MLYCD","entity_type":"gene"},{"created":"2024-10-11T18:31:10.875194+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.413","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MLYCD were changed from Malonyl-CoA decarboxylase deficiency, 248360 (3) to Malonyl-CoA decarboxylase deficiency, MIM#248360","entity_name":"MLYCD","entity_type":"gene"},{"created":"2024-10-11T18:29:56.130613+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.412","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MGME1 as ready","entity_name":"MGME1","entity_type":"gene"},{"created":"2024-10-11T18:29:56.106254+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.412","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mgme1 has been classified as Green List (High Evidence).","entity_name":"MGME1","entity_type":"gene"},{"created":"2024-10-11T18:29:08.432196+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.412","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MGME1 were changed from Mitochondrial DNA depletion syndrome 11, 615084 (3) to Mitochondrial DNA depletion syndrome 11, MIM#615084","entity_name":"MGME1","entity_type":"gene"},{"created":"2024-10-11T18:23:29.111125+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.411","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LPIN2 as ready","entity_name":"LPIN2","entity_type":"gene"},{"created":"2024-10-11T18:23:29.094818+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.411","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lpin2 has been classified as Green List (High Evidence).","entity_name":"LPIN2","entity_type":"gene"},{"created":"2024-10-11T18:23:26.107087+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.411","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LPIN2 were changed from Majeed syndrome, 609628 (3) to Majeed syndrome MIM#609628","entity_name":"LPIN2","entity_type":"gene"},{"created":"2024-10-11T18:22:53.079378+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.410","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BRAT1 as ready","entity_name":"BRAT1","entity_type":"gene"},{"created":"2024-10-11T18:22:53.065730+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.410","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: brat1 has been classified as Green List (High Evidence).","entity_name":"BRAT1","entity_type":"gene"},{"created":"2024-10-11T18:22:49.561461+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.410","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BRAT1 were changed from Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3) to Rigidity and multifocal seizure syndrome, lethal neonatal, MIM#614498; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056","entity_name":"BRAT1","entity_type":"gene"},{"created":"2024-10-11T18:22:35.983532+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.409","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BRAT1 were set to ","entity_name":"BRAT1","entity_type":"gene"},{"created":"2024-10-11T18:22:05.535446+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.408","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BCS1L as ready","entity_name":"BCS1L","entity_type":"gene"},{"created":"2024-10-11T18:22:05.511856+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.408","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bcs1l has been classified as Green List (High Evidence).","entity_name":"BCS1L","entity_type":"gene"},{"created":"2024-10-11T18:22:02.064890+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.408","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BCS1L were changed from GRACILE syndrome, 603358 (3) to GRACILE syndrome, MIM#603358; Mitochondrial complex III deficiency, nuclear type 1, MIM#124000","entity_name":"BCS1L","entity_type":"gene"},{"created":"2024-10-11T18:21:49.105427+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.407","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BCS1L were set to ","entity_name":"BCS1L","entity_type":"gene"},{"created":"2024-10-11T18:21:14.448397+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.406","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BCKDK as ready","entity_name":"BCKDK","entity_type":"gene"},{"created":"2024-10-11T18:21:14.413799+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.406","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bckdk has been classified as Green List (High Evidence).","entity_name":"BCKDK","entity_type":"gene"},{"created":"2024-10-11T18:21:10.552748+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.406","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BCKDK were set to ","entity_name":"BCKDK","entity_type":"gene"},{"created":"2024-10-11T18:20:40.862057+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.405","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CLPB as ready","entity_name":"CLPB","entity_type":"gene"},{"created":"2024-10-11T18:20:40.842484+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.405","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: clpb has been classified as Green List (High Evidence).","entity_name":"CLPB","entity_type":"gene"},{"created":"2024-10-11T18:20:37.342283+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.405","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 (3) to 3-methylglutaconic aciduria, type VIIB, autosomal recessive (MIM#616271)","entity_name":"CLPB","entity_type":"gene"},{"created":"2024-10-11T18:20:13.591710+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.404","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CLPB were set to ","entity_name":"CLPB","entity_type":"gene"},{"created":"2024-10-11T18:19:42.909669+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.403","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TPM3 as ready","entity_name":"TPM3","entity_type":"gene"},{"created":"2024-10-11T18:19:42.895255+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.403","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tpm3 has been classified as Green List (High Evidence).","entity_name":"TPM3","entity_type":"gene"},{"created":"2024-10-11T18:19:39.191391+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.403","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TPM3 were changed from Nemaline myopathy 1, autosomal dominant or recessive, 609284 (3) to Congenital myopathy 4B, autosomal recessive MIM#609284","entity_name":"TPM3","entity_type":"gene"},{"created":"2024-10-11T18:19:26.836643+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.402","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TPM3 were set to ","entity_name":"TPM3","entity_type":"gene"},{"created":"2024-10-11T18:14:54.697182+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.401","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TPI1 as ready","entity_name":"TPI1","entity_type":"gene"},{"created":"2024-10-11T18:14:54.680824+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.401","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tpi1 has been classified as Green List (High Evidence).","entity_name":"TPI1","entity_type":"gene"},{"created":"2024-10-11T18:14:50.601543+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.401","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TPI1 were changed from Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 (3) to Haemolytic anaemia due to triosephosphate isomerase deficiency MIM#615512","entity_name":"TPI1","entity_type":"gene"},{"created":"2024-10-11T18:13:39.828448+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.400","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TPI1 were set to ","entity_name":"TPI1","entity_type":"gene"},{"created":"2024-10-11T18:13:04.983085+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.399","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TNFRSF11B as ready","entity_name":"TNFRSF11B","entity_type":"gene"},{"created":"2024-10-11T18:13:04.966735+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.399","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tnfrsf11b has been classified as Green List (High Evidence).","entity_name":"TNFRSF11B","entity_type":"gene"},{"created":"2024-10-11T18:13:01.836059+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.399","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TNFRSF11B were changed from Paget disease of bone 5, juvenile-onset, 239000 (3) to Paget disease of bone 5, juvenile-onset MIM#239000","entity_name":"TNFRSF11B","entity_type":"gene"},{"created":"2024-10-11T18:12:50.256247+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.398","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TNFRSF11B were set to ","entity_name":"TNFRSF11B","entity_type":"gene"},{"created":"2024-10-11T18:12:17.626015+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.397","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: THOC2 as ready","entity_name":"THOC2","entity_type":"gene"},{"created":"2024-10-11T18:12:17.602782+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.397","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: thoc2 has been classified as Green List (High Evidence).","entity_name":"THOC2","entity_type":"gene"},{"created":"2024-10-11T18:12:14.603289+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.397","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: THOC2 were changed from Mental retardation, X-linked 12/35, 300957 (3), X-linked recessive to Intellectual developmental disorder, X-linked 12 MIM#300957","entity_name":"THOC2","entity_type":"gene"},{"created":"2024-10-11T18:12:02.934557+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.396","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: THOC2 were set to ","entity_name":"THOC2","entity_type":"gene"},{"created":"2024-10-11T18:11:21.896254+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.395","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CLDN10 as ready","entity_name":"CLDN10","entity_type":"gene"},{"created":"2024-10-11T18:11:21.873204+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.395","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cldn10 has been classified as Green List (High Evidence).","entity_name":"CLDN10","entity_type":"gene"},{"created":"2024-10-11T18:11:18.793572+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.395","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLDN10 were changed from HELIX syndrome, 617671 (3), Autosomal recessive to HELIX syndrome, MIM#617671","entity_name":"CLDN10","entity_type":"gene"},{"created":"2024-10-11T18:11:06.401182+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.394","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CLDN10 were set to ","entity_name":"CLDN10","entity_type":"gene"},{"created":"2024-10-11T18:10:47.588785+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.393","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CLDN10: Rating: GREEN; Mode of pathogenicity: None; Publications: 38927623; Phenotypes: HELIX syndrome, MIM#617671; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CLDN10","entity_type":"gene"},{"created":"2024-10-11T18:07:50.946877+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.393","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CFP as ready","entity_name":"CFP","entity_type":"gene"},{"created":"2024-10-11T18:07:50.932760+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.393","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cfp has been classified as Green List (High Evidence).","entity_name":"CFP","entity_type":"gene"},{"created":"2024-10-11T18:07:38.812747+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.393","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CFP were set to ","entity_name":"CFP","entity_type":"gene"},{"created":"2024-10-11T18:07:11.503581+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.392","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDH23 as ready","entity_name":"CDH23","entity_type":"gene"},{"created":"2024-10-11T18:07:11.489825+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.392","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdh23 has been classified as Green List (High Evidence).","entity_name":"CDH23","entity_type":"gene"},{"created":"2024-10-11T18:07:08.495766+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.392","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDH23 were changed from Usher syndrome, type 1D, 601067 (3) to Usher syndrome, type 1D (MIM#601067)","entity_name":"CDH23","entity_type":"gene"},{"created":"2024-10-11T18:06:57.536446+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.391","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CDH23 were set to ","entity_name":"CDH23","entity_type":"gene"},{"created":"2024-10-11T16:35:25.523767+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.390","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: NUP62: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NUP62","entity_type":"gene"},{"created":"2024-10-11T16:17:37.068728+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.390","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal-hepatic-pancreatic dysplasia 1 MIM#208540, Meckel syndrome 7 MIM#267010, Nephronophthisis 3 MIM#604387; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPHP3","entity_type":"gene"},{"created":"2024-10-11T15:54:50.377940+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.390","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: NPHP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 1, juvenile MIM#256100, Joubert syndrome 4 MIM#609583, Senior-Loken syndrome-1 MIM#266900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPHP1","entity_type":"gene"},{"created":"2024-10-11T15:45:23.137483+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.390","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: NDUFAF5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 16 MIM#618238; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFAF5","entity_type":"gene"},{"created":"2024-10-11T15:41:19.192412+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.390","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: NDUFA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 12 MIM#301020; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"NDUFA1","entity_type":"gene"},{"created":"2024-10-11T15:36:46.845480+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.390","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: NDRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4D MIM#601455; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDRG1","entity_type":"gene"},{"created":"2024-10-11T15:32:58.441787+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.390","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: MTMR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4B1 MIM#601382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MTMR2","entity_type":"gene"},{"created":"2024-10-11T15:21:41.688180+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.390","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: MPDZ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrocephalus, congenital, 2, with or without brain or eye anomalies MIM#615219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MPDZ","entity_type":"gene"},{"created":"2024-10-11T15:15:27.309941+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.390","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: MLYCD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MLYCD","entity_type":"gene"},{"created":"2024-10-11T15:13:08.835363+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.390","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: MGME1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 11 MIM#615084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MGME1","entity_type":"gene"},{"created":"2024-10-11T15:10:45.388051+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.390","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: LPIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Majeed syndrome MIM#609628; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LPIN2","entity_type":"gene"},{"created":"2024-10-11T10:46:13.555126+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.390","user_name":"Lisa Norbart","item_type":"entity","text":"reviewed gene: BRAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26483087, 26494257, 27282546, 23035047, 25319849, 25500575; Phenotypes: Rigidity and multifocal seizure syndrome, lethal neonatal, MIM#614498, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BRAT1","entity_type":"gene"},{"created":"2024-10-11T10:39:59.762567+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.390","user_name":"Lisa Norbart","item_type":"entity","text":"reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 26563427, 17314340; Phenotypes: GRACILE syndrome, MIM#603358, Mitochondrial complex III deficiency, nuclear type 1, MIM#124000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BCS1L","entity_type":"gene"},{"created":"2024-10-11T10:29:44.202184+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.390","user_name":"Lisa Norbart","item_type":"entity","text":"reviewed gene: BCKDK: Rating: GREEN; Mode of pathogenicity: None; Publications: 22956686, 24449431; Phenotypes: Branched-chain keto acid dehydrogenase kinase deficiency, MIM#614923; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BCKDK","entity_type":"gene"},{"created":"2024-10-11T10:15:42.059867+11:00","panel_name":"Tremors_Superpanel","panel_id":3531,"panel_version":"3.25","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Superpanel; Victorian Clinical Genetics Services; Royal Melbourne Hospital","entity_name":null,"entity_type":null},{"created":"2024-10-10T18:34:52.668309+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6497","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SC5D as ready","entity_name":"SC5D","entity_type":"gene"},{"created":"2024-10-10T18:34:52.644244+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6497","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sc5d has been classified as Green List (High Evidence).","entity_name":"SC5D","entity_type":"gene"},{"created":"2024-10-10T18:33:36.069873+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6497","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SC5D were changed from  to Lathosterolosis, MIM#607330","entity_name":"SC5D","entity_type":"gene"},{"created":"2024-10-10T18:29:04.341805+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6496","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SC5D were set to ","entity_name":"SC5D","entity_type":"gene"},{"created":"2024-10-10T18:28:26.725588+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6495","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SC5D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SC5D","entity_type":"gene"},{"created":"2024-10-10T18:27:50.371233+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6494","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association. DD/ID is part of the phenotype.; to: Well established gene-disease association. DD/ID is part of the phenotype. More than 5 families reported.","entity_name":"SC5D","entity_type":"gene"},{"created":"2024-10-10T18:27:37.039253+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6494","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SC5D: Changed publications: 17853487, 12189593, 12812989, 24142275","entity_name":"SC5D","entity_type":"gene"},{"created":"2024-10-10T18:27:05.375162+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6494","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SC5D: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lathosterolosis, MIM#607330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SC5D","entity_type":"gene"},{"created":"2024-10-10T18:19:35.357272+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6494","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RTEL1 as ready","entity_name":"RTEL1","entity_type":"gene"},{"created":"2024-10-10T18:19:35.329490+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6494","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rtel1 has been classified as Green List (High Evidence).","entity_name":"RTEL1","entity_type":"gene"},{"created":"2024-10-10T18:19:24.185039+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6494","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RTEL1 were changed from Dyskeratosis congenita, autosomal recessive 5, MIM#615190 to Dyskeratosis congenita, autosomal recessive 5, MIM#615190","entity_name":"RTEL1","entity_type":"gene"},{"created":"2024-10-10T18:12:33.149527+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6493","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RTEL1 were changed from  to Dyskeratosis congenita, autosomal recessive 5, MIM#615190","entity_name":"RTEL1","entity_type":"gene"},{"created":"2024-10-10T18:10:54.301837+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6492","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RTEL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RTEL1","entity_type":"gene"},{"created":"2024-10-10T18:10:02.521776+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6491","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal recessive 5, MIM#615190; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RTEL1","entity_type":"gene"},{"created":"2024-10-10T18:08:47.705819+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6491","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RRM2B as ready","entity_name":"RRM2B","entity_type":"gene"},{"created":"2024-10-10T18:08:47.694910+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6491","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rrm2b has been classified as Green List (High Evidence).","entity_name":"RRM2B","entity_type":"gene"},{"created":"2024-10-10T18:08:42.796093+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6491","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RRM2B were changed from  to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075","entity_name":"RRM2B","entity_type":"gene"},{"created":"2024-10-10T18:08:02.941738+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6490","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RRM2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RRM2B","entity_type":"gene"},{"created":"2024-10-10T18:07:21.115029+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6489","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RRM2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075, Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RRM2B","entity_type":"gene"},{"created":"2024-10-10T17:59:03.927230+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.286","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deep intronic tag was added to gene: UFC1.","entity_name":"UFC1","entity_type":"gene"},{"created":"2024-10-10T17:58:44.866717+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6489","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deep intronic tag was added to gene: UFC1.","entity_name":"UFC1","entity_type":"gene"},{"created":"2024-10-10T17:58:33.935340+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6489","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: UFC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with spasticity and poor growth, OMIM #618076; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"UFC1","entity_type":"gene"},{"created":"2024-10-10T17:56:44.801990+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.286","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: UFC1: Note the NM_016406.4:c.255+17G>A variant is relatively common disease-causing variant.","entity_name":"UFC1","entity_type":"gene"}]}