{"count":220790,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1594","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1592","results":[{"created":"2020-09-12T16:16:16.613532+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.244","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAPK8IP3 as Amber List (moderate evidence)","entity_name":"MAPK8IP3","entity_type":"gene"},{"created":"2020-09-12T16:16:16.604854+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.244","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mapk8ip3 has been classified as Amber List (Moderate Evidence).","entity_name":"MAPK8IP3","entity_type":"gene"},{"created":"2020-09-12T16:16:08.022738+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: >3 reported individuals and functional evidence in Caenorhabditis elegans \nSources: Literature; to: 18 reported individuals of whom 2 had ataxia.\r\nSources: Literature","entity_name":"MAPK8IP3","entity_type":"gene"},{"created":"2020-09-12T16:15:50.516301+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MAPK8IP3: Changed publications: 30612693, 30945334","entity_name":"MAPK8IP3","entity_type":"gene"},{"created":"2020-09-12T16:12:36.565391+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MAPK8IP3: Changed rating: AMBER","entity_name":"MAPK8IP3","entity_type":"gene"},{"created":"2020-09-12T15:00:27.380044+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4389","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LARS2 as ready","entity_name":"LARS2","entity_type":"gene"},{"created":"2020-09-12T15:00:27.369132+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4389","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lars2 has been classified as Green List (High Evidence).","entity_name":"LARS2","entity_type":"gene"},{"created":"2020-09-12T15:00:18.370790+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4389","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LARS2 were changed from  to Perrault syndrome 4; Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021; Leukodystrophy","entity_name":"LARS2","entity_type":"gene"},{"created":"2020-09-12T15:00:00.996245+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4388","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LARS2 were set to ","entity_name":"LARS2","entity_type":"gene"},{"created":"2020-09-12T14:57:59.900549+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4387","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LARS2","entity_type":"gene"},{"created":"2020-09-12T14:57:43.785368+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4386","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29205794, 32423379, 30737337, 26537577, 23541342; Phenotypes: Perrault syndrome 4, Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021, Leukodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LARS2","entity_type":"gene"},{"created":"2020-09-12T14:51:39.006306+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LARS2 as ready","entity_name":"LARS2","entity_type":"gene"},{"created":"2020-09-12T14:51:38.996738+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lars2 has been classified as Green List (High Evidence).","entity_name":"LARS2","entity_type":"gene"},{"created":"2020-09-12T14:51:37.160941+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LARS2 were changed from Perrault syndrome 4 to Perrault syndrome 4; Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021; Leukodystrophy","entity_name":"LARS2","entity_type":"gene"},{"created":"2020-09-12T14:51:27.786798+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.242","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LARS2 were set to ","entity_name":"LARS2","entity_type":"gene"},{"created":"2020-09-12T14:51:12.108735+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.241","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29205794, 32423379, 30737337; Phenotypes: Perrault syndrome 4, MIM# 615300, Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021, Leukodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LARS2","entity_type":"gene"},{"created":"2020-09-12T14:41:55.927526+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.241","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LAMA1 were set to 26932191","entity_name":"LAMA1","entity_type":"gene"},{"created":"2020-09-12T14:38:39.623468+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4386","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LAMA1 as ready","entity_name":"LAMA1","entity_type":"gene"},{"created":"2020-09-12T14:38:39.613142+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4386","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lama1 has been classified as Green List (High Evidence).","entity_name":"LAMA1","entity_type":"gene"},{"created":"2020-09-12T14:38:33.648832+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4386","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LAMA1 were changed from  to Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts; Poretti Boltshauser syndrome MIM#615960","entity_name":"LAMA1","entity_type":"gene"},{"created":"2020-09-12T14:37:51.820681+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4385","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LAMA1 were set to ","entity_name":"LAMA1","entity_type":"gene"},{"created":"2020-09-12T14:37:35.573303+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4384","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LAMA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMA1","entity_type":"gene"},{"created":"2020-09-12T14:37:19.863061+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4383","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LAMA1: Changed publications: 25105227","entity_name":"LAMA1","entity_type":"gene"},{"created":"2020-09-12T14:37:09.076730+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4383","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Ataxia is part of the phenotype. \nSources: Expert list; to: Five unrelated families reported.\r\nSources: Expert list","entity_name":"LAMA1","entity_type":"gene"},{"created":"2020-09-12T14:34:23.280711+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.240","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: LAMA1: Five unrelated families reported.","entity_name":"LAMA1","entity_type":"gene"},{"created":"2020-09-12T14:34:06.500509+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.240","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LAMA1: Changed publications: 25105227","entity_name":"LAMA1","entity_type":"gene"},{"created":"2020-09-12T14:32:06.132135+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3006","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNA2 as ready","entity_name":"KCNA2","entity_type":"gene"},{"created":"2020-09-12T14:32:06.118873+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3006","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcna2 has been classified as Green List (High Evidence).","entity_name":"KCNA2","entity_type":"gene"},{"created":"2020-09-12T14:32:02.139469+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3006","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNA2 were changed from  to Early infantile encephalopathy 32, MIM#616366","entity_name":"KCNA2","entity_type":"gene"},{"created":"2020-09-12T14:31:29.109782+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3005","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNA2 were set to ","entity_name":"KCNA2","entity_type":"gene"},{"created":"2020-09-12T14:31:06.393757+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3004","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KCNA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNA2","entity_type":"gene"},{"created":"2020-09-12T14:30:40.386966+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3003","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KCNA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29050392; Phenotypes: Early infantile encephalopathy 32, MIM#616366; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNA2","entity_type":"gene"},{"created":"2020-09-12T14:29:42.253189+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.857","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNA2 as ready","entity_name":"KCNA2","entity_type":"gene"},{"created":"2020-09-12T14:29:42.242687+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.857","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcna2 has been classified as Green List (High Evidence).","entity_name":"KCNA2","entity_type":"gene"},{"created":"2020-09-12T14:29:39.294512+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.857","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNA2 were changed from  to Early infantile encephalopathy 32, MIM#616366","entity_name":"KCNA2","entity_type":"gene"},{"created":"2020-09-12T14:29:12.419214+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.856","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNA2 were set to ","entity_name":"KCNA2","entity_type":"gene"},{"created":"2020-09-12T14:28:51.200338+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.855","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KCNA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNA2","entity_type":"gene"},{"created":"2020-09-12T14:28:18.687281+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.854","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KCNA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29050392; Phenotypes: Early infantile encephalopathy 32, MIM#616366; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNA2","entity_type":"gene"},{"created":"2020-09-12T14:27:41.591436+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4383","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNA2 as ready","entity_name":"KCNA2","entity_type":"gene"},{"created":"2020-09-12T14:27:41.581523+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4383","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcna2 has been classified as Green List (High Evidence).","entity_name":"KCNA2","entity_type":"gene"},{"created":"2020-09-12T14:27:34.384546+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4383","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNA2 were changed from  to Early infantile encephalopathy 32, MIM#616366","entity_name":"KCNA2","entity_type":"gene"},{"created":"2020-09-12T14:27:18.095190+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4382","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNA2 were set to ","entity_name":"KCNA2","entity_type":"gene"},{"created":"2020-09-12T14:27:02.538389+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4381","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KCNA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNA2","entity_type":"gene"},{"created":"2020-09-12T14:26:45.503688+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4380","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"KCNA2","entity_type":"gene"},{"created":"2020-09-12T14:26:40.744661+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4380","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: KCNA2: Review of 23 affected individuals in PMID 29050392: some variants are LoF and others GoF, and some genotype-phenotype correlations made. The main differences were (i) predominant focal (loss-of-function) versus generalized (gain-of-function) seizures and corresponding epileptic discharges with prominent sleep activation in most cases with loss-of-function mutations; (ii) more severe epilepsy, developmental problems and ataxia, and atrophy of the cerebellum or even the whole brain in about half of the patients with gain-of-function mutations; and (iii) most severe early-onset phenotypes, occasionally with neonatal onset epilepsy and developmental impairment, as well as generalised and focal seizures and EEG abnormalities for patients with gain- and loss-of-function mutations.","entity_name":"KCNA2","entity_type":"gene"},{"created":"2020-09-12T14:24:52.839005+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.240","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: KCNA2: Review of 23 affected individuals in PMID 29050392: some variants are LoF and others GoF, and some genotype-phenotype correlations made. The main differences were (i) predominant focal (loss-of-function) versus generalized (gain-of-function) seizures and corresponding epileptic discharges with prominent sleep activation in most cases with loss-of-function mutations; (ii) more severe epilepsy, developmental problems and ataxia, and atrophy of the cerebellum or even the whole brain in about half of the patients with gain-of-function mutations; and (iii) most severe early-onset phenotypes, occasionally with neonatal onset epilepsy and developmental impairment, as well as generalised and focal seizures and EEG abnormalities for patients with gain- and loss-of-function mutations.","entity_name":"KCNA2","entity_type":"gene"},{"created":"2020-09-12T14:17:44.213867+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.240","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IRF2BPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 30057031; Phenotypes: Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM# 618088; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"IRF2BPL","entity_type":"gene"},{"created":"2020-09-12T14:12:53.988031+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.487","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HARS2 as ready","entity_name":"HARS2","entity_type":"gene"},{"created":"2020-09-12T14:12:53.979350+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.487","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hars2 has been classified as Green List (High Evidence).","entity_name":"HARS2","entity_type":"gene"},{"created":"2020-09-12T14:12:48.538278+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.487","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HARS2 were changed from  to Perrault syndrome 2, MIM# 614926","entity_name":"HARS2","entity_type":"gene"},{"created":"2020-09-12T14:12:26.271362+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.486","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HARS2 were set to ","entity_name":"HARS2","entity_type":"gene"},{"created":"2020-09-12T14:12:00.859836+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.485","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HARS2","entity_type":"gene"},{"created":"2020-09-12T14:11:33.794824+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.484","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31827252; Phenotypes: Perrault syndrome 2, MIM# 614926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HARS2","entity_type":"gene"},{"created":"2020-09-12T14:10:46.979083+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4380","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HARS2 as ready","entity_name":"HARS2","entity_type":"gene"},{"created":"2020-09-12T14:10:46.968793+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4380","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hars2 has been classified as Green List (High Evidence).","entity_name":"HARS2","entity_type":"gene"},{"created":"2020-09-12T14:10:40.810283+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4380","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HARS2 were changed from  to Perrault syndrome 2, MIM# 614926","entity_name":"HARS2","entity_type":"gene"},{"created":"2020-09-12T14:10:30.772862+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4379","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HARS2 were set to ","entity_name":"HARS2","entity_type":"gene"},{"created":"2020-09-12T14:08:51.840605+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4378","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HARS2","entity_type":"gene"},{"created":"2020-09-12T14:08:34.838581+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4377","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31827252; Phenotypes: Perrault syndrome 2, MIM# 614926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HARS2","entity_type":"gene"},{"created":"2020-09-12T14:07:10.636181+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.240","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HARS2 as ready","entity_name":"HARS2","entity_type":"gene"},{"created":"2020-09-12T14:07:10.625269+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.240","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hars2 has been classified as Red List (Low Evidence).","entity_name":"HARS2","entity_type":"gene"},{"created":"2020-09-12T14:07:08.471573+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.240","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HARS2 were changed from Perrault syndrome 2 to Perrault syndrome 2, MIM#\t614926","entity_name":"HARS2","entity_type":"gene"},{"created":"2020-09-12T14:06:51.532582+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.239","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HARS2 were set to ","entity_name":"HARS2","entity_type":"gene"},{"created":"2020-09-12T14:06:43.294940+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.238","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HARS2 as Red List (low evidence)","entity_name":"HARS2","entity_type":"gene"},{"created":"2020-09-12T14:06:43.286889+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.238","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hars2 has been classified as Red List (Low Evidence).","entity_name":"HARS2","entity_type":"gene"},{"created":"2020-09-12T14:06:33.156445+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.237","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HARS2: Rating: RED; Mode of pathogenicity: None; Publications: 31827252; Phenotypes: Perrault syndrome 2, MIM# 614926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HARS2","entity_type":"gene"},{"created":"2020-09-12T14:00:11.860904+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.237","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GSS as ready","entity_name":"GSS","entity_type":"gene"},{"created":"2020-09-12T14:00:11.851536+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.237","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gss has been classified as Green List (High Evidence).","entity_name":"GSS","entity_type":"gene"},{"created":"2020-09-12T14:00:09.585892+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.237","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GSS were changed from Gluthathione synthetase deficiency to Gluthathione synthetase deficiency, MIM# 266130","entity_name":"GSS","entity_type":"gene"},{"created":"2020-09-12T13:59:59.855352+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.236","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GSS were set to ","entity_name":"GSS","entity_type":"gene"},{"created":"2020-09-12T13:59:49.225131+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.235","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GSS: Rating: GREEN; Mode of pathogenicity: None; Publications: 15717202; Phenotypes: Glutathione synthetase deficiency, MIM# 266130; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GSS","entity_type":"gene"},{"created":"2020-09-12T13:53:14.248127+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.235","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FBXL4 as ready","entity_name":"FBXL4","entity_type":"gene"},{"created":"2020-09-12T13:53:14.239657+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.235","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbxl4 has been classified as Green List (High Evidence).","entity_name":"FBXL4","entity_type":"gene"},{"created":"2020-09-12T13:53:11.998863+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.235","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FBXL4 were changed from Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), MIM# 615471","entity_name":"FBXL4","entity_type":"gene"},{"created":"2020-09-12T13:52:58.122414+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.234","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FBXL4 were set to ","entity_name":"FBXL4","entity_type":"gene"},{"created":"2020-09-12T13:52:46.585122+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.233","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FBXL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28383868; Phenotypes: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), MIM# 615471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FBXL4","entity_type":"gene"},{"created":"2020-09-12T13:31:25.861320+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4377","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ELOVL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 25065913; Phenotypes: Spinocerebellar ataxia 38, MIM# 615957; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ELOVL5","entity_type":"gene"},{"created":"2020-09-12T13:27:56.188586+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3003","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EBF3 as ready","entity_name":"EBF3","entity_type":"gene"},{"created":"2020-09-12T13:27:56.173197+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3003","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ebf3 has been classified as Green List (High Evidence).","entity_name":"EBF3","entity_type":"gene"},{"created":"2020-09-12T13:27:51.467940+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3003","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EBF3 were changed from  to Hypotonia, ataxia, and delayed development syndrome, MIM# 617330","entity_name":"EBF3","entity_type":"gene"},{"created":"2020-09-12T13:27:28.800125+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3002","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EBF3 were set to ","entity_name":"EBF3","entity_type":"gene"},{"created":"2020-09-12T13:27:05.905732+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3001","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EBF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EBF3","entity_type":"gene"},{"created":"2020-09-12T13:26:36.918473+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3000","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EBF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28017373, 28017372, 28017370, 32366537; Phenotypes: Hypotonia, ataxia, and delayed development syndrome, MIM# 617330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EBF3","entity_type":"gene"},{"created":"2020-09-12T13:26:04.719018+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4377","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EBF3 as ready","entity_name":"EBF3","entity_type":"gene"},{"created":"2020-09-12T13:26:04.708306+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4377","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ebf3 has been classified as Green List (High Evidence).","entity_name":"EBF3","entity_type":"gene"},{"created":"2020-09-12T13:24:50.778263+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4377","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EBF3 were changed from  to Hypotonia, ataxia, and delayed development syndrome, MIM# 617330","entity_name":"EBF3","entity_type":"gene"},{"created":"2020-09-12T13:23:52.145543+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4376","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EBF3 were set to ","entity_name":"EBF3","entity_type":"gene"},{"created":"2020-09-12T13:23:41.495113+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4375","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EBF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EBF3","entity_type":"gene"},{"created":"2020-09-12T13:23:25.209820+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4374","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EBF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28017373, 28017372, 28017370, 32366537; Phenotypes: Hypotonia, ataxia, and delayed development syndrome, MIM# 617330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EBF3","entity_type":"gene"},{"created":"2020-09-12T13:22:33.439466+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.233","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EBF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28017373, 28017372, 28017370, 32366537; Phenotypes: Hypotonia, ataxia, and delayed development syndrome, MIM# 617330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EBF3","entity_type":"gene"},{"created":"2020-09-12T13:19:05.725577+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3000","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DOCK3 as ready","entity_name":"DOCK3","entity_type":"gene"},{"created":"2020-09-12T13:19:05.714459+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3000","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dock3 has been classified as Green List (High Evidence).","entity_name":"DOCK3","entity_type":"gene"},{"created":"2020-09-12T13:19:02.045724+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3000","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DOCK3 were changed from  to Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292","entity_name":"DOCK3","entity_type":"gene"},{"created":"2020-09-12T13:18:33.989237+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2999","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DOCK3 were set to ","entity_name":"DOCK3","entity_type":"gene"},{"created":"2020-09-12T13:18:09.023321+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2998","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DOCK3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOCK3","entity_type":"gene"},{"created":"2020-09-12T13:17:43.068037+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2997","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DOCK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28195318, 29130632, 30976111; Phenotypes: Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOCK3","entity_type":"gene"},{"created":"2020-09-12T13:17:05.420819+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4374","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DOCK3 as ready","entity_name":"DOCK3","entity_type":"gene"},{"created":"2020-09-12T13:17:05.412361+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4374","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dock3 has been classified as Green List (High Evidence).","entity_name":"DOCK3","entity_type":"gene"},{"created":"2020-09-12T13:16:59.111928+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4374","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DOCK3 were changed from  to Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292","entity_name":"DOCK3","entity_type":"gene"},{"created":"2020-09-12T13:16:43.706685+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4373","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DOCK3 were set to ","entity_name":"DOCK3","entity_type":"gene"}]}