{"count":220842,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=715","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=713","results":[{"created":"2022-10-13T16:22:22.427972+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1753","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BOLA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"BOLA3","entity_type":"gene"},{"created":"2022-10-13T16:20:58.844774+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1752","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BCS1L as ready","entity_name":"BCS1L","entity_type":"gene"},{"created":"2022-10-13T16:20:58.834961+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1752","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":"2022-10-13T16:19:56.095065+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1752","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BCS1L were changed from  to Bjornstad syndrome, MIM# 262000; Leigh syndrome, MIM# 256000; BCS1L-related mitochondrial disease","entity_name":"BCS1L","entity_type":"gene"},{"created":"2022-10-13T16:19:24.366433+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1751","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BCS1L were set to 24172246; 17314340; 9545407","entity_name":"BCS1L","entity_type":"gene"},{"created":"2022-10-13T16:18:51.868872+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1750","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BCS1L were set to ","entity_name":"BCS1L","entity_type":"gene"},{"created":"2022-10-13T16:18:51.610719+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.544","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SCO2 as ready","entity_name":"SCO2","entity_type":"gene"},{"created":"2022-10-13T16:18:51.601628+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.544","user_name":"Seb Lunke","item_type":"entity","text":"Gene: sco2 has been classified as Red List (Low Evidence).","entity_name":"SCO2","entity_type":"gene"},{"created":"2022-10-13T16:18:21.328507+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.544","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SCO2 were changed from Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency to Mitochondrial complex IV deficiency, nuclear type 2, MC4DN2, MIM#604377","entity_name":"SCO2","entity_type":"gene"},{"created":"2022-10-13T16:18:05.170913+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.543","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SCO2 as Red List (low evidence)","entity_name":"SCO2","entity_type":"gene"},{"created":"2022-10-13T16:18:05.157634+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.543","user_name":"Seb Lunke","item_type":"entity","text":"Gene: sco2 has been classified as Red List (Low Evidence).","entity_name":"SCO2","entity_type":"gene"},{"created":"2022-10-13T16:17:50.765115+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.542","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SCO2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 2, MC4DN2, MIM#604377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SCO2","entity_type":"gene"},{"created":"2022-10-13T16:15:09.314138+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1749","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BCS1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"BCS1L","entity_type":"gene"},{"created":"2022-10-13T16:14:20.192180+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1748","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BCKDHB as ready","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2022-10-13T16:14:20.183656+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1748","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bckdhb has been classified as Green List (High Evidence).","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2022-10-13T16:14:14.763748+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1748","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BCKDHB were changed from  to Maple syrup urine disease, type Ib, MIM# 248600","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2022-10-13T16:13:31.343078+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1747","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BCKDHB were set to ","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2022-10-13T16:12:59.781422+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1746","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BCKDHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2022-10-13T16:12:28.070891+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1745","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association.; to: Well established gene-disease association, seizures are part of the phenotype.","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2022-10-13T16:11:34.864483+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.542","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SCNN1B as ready","entity_name":"SCNN1B","entity_type":"gene"},{"created":"2022-10-13T16:11:34.855001+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.542","user_name":"Seb Lunke","item_type":"entity","text":"Gene: scnn1b has been classified as Green List (High Evidence).","entity_name":"SCNN1B","entity_type":"gene"},{"created":"2022-10-13T16:10:26.044357+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.542","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SCNN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoaldosteronism, type I, MIM# 264350 AR, MIM#0009917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SCNN1B","entity_type":"gene"},{"created":"2022-10-13T16:09:05.284940+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.542","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SCNN1A as ready","entity_name":"SCNN1A","entity_type":"gene"},{"created":"2022-10-13T16:09:05.275126+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.542","user_name":"Seb Lunke","item_type":"entity","text":"Gene: scnn1a has been classified as Green List (High Evidence).","entity_name":"SCNN1A","entity_type":"gene"},{"created":"2022-10-13T16:08:59.717042+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.542","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SCNN1A were changed from Pseudohypoaldosteronism, MIM#264350 to Pseudohypoaldosteronism, type I, MIM# 264350","entity_name":"SCNN1A","entity_type":"gene"},{"created":"2022-10-13T16:08:32.070786+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.541","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SCNN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoaldosteronism, type I, MIM# 264350 AR, MIM#0009917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SCNN1A","entity_type":"gene"},{"created":"2022-10-13T16:00:43.585524+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.541","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SCN8A as ready","entity_name":"SCN8A","entity_type":"gene"},{"created":"2022-10-13T16:00:43.576433+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.541","user_name":"Seb Lunke","item_type":"entity","text":"Gene: scn8a has been classified as Green List (High Evidence).","entity_name":"SCN8A","entity_type":"gene"},{"created":"2022-10-13T16:00:25.581817+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.541","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27559564; Phenotypes: Developmental and epileptic encephalopathy 13, MIM#614558; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SCN8A","entity_type":"gene"},{"created":"2022-10-13T13:26:20.584281+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"1.0","user_name":"Bryony Thompson","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2022-10-13T13:16:12.050146+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.349","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: NPC1 as ready","entity_name":"NPC1","entity_type":"gene"},{"created":"2022-10-13T13:16:12.041604+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.349","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: npc1 has been classified as Green List (High Evidence).","entity_name":"NPC1","entity_type":"gene"},{"created":"2022-10-13T13:15:55.251438+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.349","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: NPC1 were set to ","entity_name":"NPC1","entity_type":"gene"},{"created":"2022-10-13T13:13:48.056921+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.348","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10480349, 17003072, 25497598, 33228797; Phenotypes: Niemann-Pick disease, type C1 MONDO:0009757, ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"NPC1","entity_type":"gene"},{"created":"2022-10-13T12:46:18.328550+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.158","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ITM2B as ready","entity_name":"ITM2B","entity_type":"gene"},{"created":"2022-10-13T12:46:18.320076+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.158","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: itm2b has been classified as Green List (High Evidence).","entity_name":"ITM2B","entity_type":"gene"},{"created":"2022-10-13T12:44:41.825877+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.158","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: ITM2B were changed from  to Cerebral amyloid angiopathy MONDO:0005620","entity_name":"ITM2B","entity_type":"gene"},{"created":"2022-10-13T12:42:02.458892+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.157","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: ITM2B were set to ","entity_name":"ITM2B","entity_type":"gene"},{"created":"2022-10-13T12:41:19.085808+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.156","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: ITM2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ITM2B","entity_type":"gene"},{"created":"2022-10-13T12:37:52.186696+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.155","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ITM2B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 10391242, 10781099, 20385796, 33814452; Phenotypes: Cerebral amyloid angiopathy MONDO:0005620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"ITM2B","entity_type":"gene"},{"created":"2022-10-13T11:58:13.384641+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.541","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: GATA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GATA3","entity_type":"gene"},{"created":"2022-10-13T11:52:31.580022+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.541","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 21, MIM# 614172, MONDO:0042982, Emberger syndrome, MIM# 614038, MONDO:0013540; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GATA2","entity_type":"gene"},{"created":"2022-10-13T11:45:59.504950+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.541","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: GAN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Giant axonal neuropathy-1, MIM#256850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GAN","entity_type":"gene"},{"created":"2022-10-13T11:27:06.302698+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.541","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: GAMT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral creatine deficiency syndrome 2, MIM#612736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GAMT","entity_type":"gene"},{"created":"2022-10-13T11:20:32.931393+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.541","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis IVA, MIM#253000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GALNS","entity_type":"gene"},{"created":"2022-10-13T11:10:39.658329+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.541","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Krabbe disease, MIM#245200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GALC","entity_type":"gene"},{"created":"2022-10-13T11:07:44.708695+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.348","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: HARS: Changed publications: 32333447","entity_name":"HARS","entity_type":"gene"},{"created":"2022-10-13T08:19:47.871936+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.46","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HEATR3 were changed from Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability; Diamond Blackfan anaemia MONDO:0015253, HEATR3 related to Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability; Diamond-Blackfan anaemia 21, MIM# 620072","entity_name":"HEATR3","entity_type":"gene"},{"created":"2022-10-13T08:18:52.202253+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.45","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HEATR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anaemia 21, MIM# 620072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HEATR3","entity_type":"gene"},{"created":"2022-10-13T08:18:24.723539+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4995","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HEATR3 were changed from Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability; Diamond Blackfan anaemia MONDO:0015253, HEATR3 related to Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability; Diamond-Blackfan anaemia 21, MIM# 620072","entity_name":"HEATR3","entity_type":"gene"},{"created":"2022-10-13T08:17:38.816736+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4994","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HEATR3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anaemia 21, MIM# 620072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HEATR3","entity_type":"gene"},{"created":"2022-10-13T08:16:56.722016+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.402","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HEATR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anaemia 21, MIM# 620072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HEATR3","entity_type":"gene"},{"created":"2022-10-13T08:16:33.362944+11:00","panel_name":"Diamond Blackfan anaemia","panel_id":98,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HEATR3 were changed from Bone marrow failure, short stature, facial and acromelic dysmorphic features, and mild intellectual disability; Diamond Blackfan anaemia MONDO:0015253, HEATR3 related to Diamond-Blackfan anaemia 21, MIM# 620072","entity_name":"HEATR3","entity_type":"gene"},{"created":"2022-10-13T08:15:58.251550+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HEATR3 were changed from Diamond Blackfan anaemia MONDO:0015253, HEATR3 related to Diamond-Blackfan anaemia 21, MIM# 620072","entity_name":"HEATR3","entity_type":"gene"},{"created":"2022-10-13T08:15:14.682280+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.22","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HEATR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anaemia 21, MIM# 620072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HEATR3","entity_type":"gene"},{"created":"2022-10-12T15:03:30.964180+11:00","panel_name":"Complement Deficiencies","panel_id":224,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: C6.","entity_name":"C6","entity_type":"gene"},{"created":"2022-10-12T15:03:07.285661+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.402","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: C6.","entity_name":"C6","entity_type":"gene"},{"created":"2022-10-12T14:17:06.388673+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.541","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: C6.","entity_name":"C6","entity_type":"gene"},{"created":"2022-10-12T14:16:57.501108+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.541","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C6 as ready","entity_name":"C6","entity_type":"gene"},{"created":"2022-10-12T14:16:57.490205+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.541","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c6 has been classified as Green List (High Evidence).","entity_name":"C6","entity_type":"gene"},{"created":"2022-10-12T14:16:48.387272+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.541","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: C6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C6 deficiency MIM#612446; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"C6","entity_type":"gene"},{"created":"2022-10-12T13:09:08.878313+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.541","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FH as ready","entity_name":"FH","entity_type":"gene"},{"created":"2022-10-12T13:09:08.868999+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.541","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fh has been classified as Green List (High Evidence).","entity_name":"FH","entity_type":"gene"},{"created":"2022-10-12T13:09:02.141812+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.541","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: FH.","entity_name":"FH","entity_type":"gene"},{"created":"2022-10-12T13:08:52.029852+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.541","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fumarase deficiency, MIM#606812; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FH","entity_type":"gene"},{"created":"2022-10-12T13:06:53.492658+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.541","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FBP1 as ready","entity_name":"FBP1","entity_type":"gene"},{"created":"2022-10-12T13:06:53.482784+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.541","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbp1 has been classified as Green List (High Evidence).","entity_name":"FBP1","entity_type":"gene"},{"created":"2022-10-12T13:06:44.703483+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.541","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fructose-1,6-bisphosphatase deficiency, MIM# 229700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FBP1","entity_type":"gene"},{"created":"2022-10-12T13:02:41.328964+11:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"1.19","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: FAH.","entity_name":"FAH","entity_type":"gene"},{"created":"2022-10-12T13:01:55.236112+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: FAH.","entity_name":"FAH","entity_type":"gene"},{"created":"2022-10-12T13:01:36.698350+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: FAH.","entity_name":"FAH","entity_type":"gene"},{"created":"2022-10-12T13:00:57.543349+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.402","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: FAH.","entity_name":"FAH","entity_type":"gene"},{"created":"2022-10-12T13:00:38.852774+11:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: FAH.","entity_name":"FAH","entity_type":"gene"},{"created":"2022-10-12T13:00:27.252127+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.237","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: FAH.","entity_name":"FAH","entity_type":"gene"},{"created":"2022-10-12T13:00:07.675530+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.541","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FAH as ready","entity_name":"FAH","entity_type":"gene"},{"created":"2022-10-12T13:00:07.659717+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.541","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fah has been classified as Green List (High Evidence).","entity_name":"FAH","entity_type":"gene"},{"created":"2022-10-12T12:59:57.155973+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.541","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: FAH.","entity_name":"FAH","entity_type":"gene"},{"created":"2022-10-12T12:59:46.281167+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.541","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tyrosinaemia, type I, MIM# 276700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FAH","entity_type":"gene"},{"created":"2022-10-12T12:58:19.063787+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4994","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ETHE1.","entity_name":"ETHE1","entity_type":"gene"},{"created":"2022-10-12T12:58:01.808179+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.507","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ETHE1.","entity_name":"ETHE1","entity_type":"gene"},{"created":"2022-10-12T12:57:46.619852+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.841","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ETHE1.","entity_name":"ETHE1","entity_type":"gene"},{"created":"2022-10-12T12:56:01.837011+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1745","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ETHE1.","entity_name":"ETHE1","entity_type":"gene"},{"created":"2022-10-12T12:55:40.173704+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.402","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ETHE1.","entity_name":"ETHE1","entity_type":"gene"},{"created":"2022-10-12T12:55:21.729694+11:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ETHE1.","entity_name":"ETHE1","entity_type":"gene"},{"created":"2022-10-12T12:54:57.669860+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.541","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ETHE1.","entity_name":"ETHE1","entity_type":"gene"},{"created":"2022-10-12T12:54:48.977435+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.541","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ETHE1 as ready","entity_name":"ETHE1","entity_type":"gene"},{"created":"2022-10-12T12:54:48.964672+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.541","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ethe1 has been classified as Green List (High Evidence).","entity_name":"ETHE1","entity_type":"gene"},{"created":"2022-10-12T12:54:38.862494+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.541","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association.\r\n\r\nOnset in infancy.; to: Well established gene-disease association.\r\n\r\nOnset in infancy. Typically high mortality.","entity_name":"ETHE1","entity_type":"gene"},{"created":"2022-10-12T12:54:26.482602+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.541","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ETHE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ethylmalonic encephalopathy, MIM# 602473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ETHE1","entity_type":"gene"},{"created":"2022-10-11T21:03:47.691462+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1745","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BCKDHA as ready","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2022-10-11T21:03:47.683455+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1745","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bckdha has been classified as Green List (High Evidence).","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2022-10-11T21:03:12.933282+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1745","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BCKDHA were changed from  to Maple syrup urine disease, type Ia, MIM# 248600","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2022-10-11T21:02:39.323220+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1744","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BCKDHA were set to ","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2022-10-11T20:40:22.042590+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1743","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BCKDHA was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2022-10-11T20:39:42.913146+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1742","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BCKDHA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2022-10-11T20:39:42.533392+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1741","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Seizures are part of the phenotype.","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2022-10-11T20:38:39.643652+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1741","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATRX as ready","entity_name":"ATRX","entity_type":"gene"},{"created":"2022-10-11T20:38:39.635170+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1741","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atrx has been classified as Green List (High Evidence).","entity_name":"ATRX","entity_type":"gene"},{"created":"2022-10-11T20:38:32.529643+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1741","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATRX were changed from  to Alpha-thalassemia/mental retardation syndrome, MIM# 301040; Intellectual disability-hypotonic facies syndrome, X-linked, MIM# 309580","entity_name":"ATRX","entity_type":"gene"},{"created":"2022-10-11T20:37:47.653045+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1740","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATRX was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"ATRX","entity_type":"gene"}]}