{"count":220825,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1605","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1603","results":[{"created":"2020-09-06T19:00:53.891337+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PCCA was added\ngene: PCCA was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCCA were set to 30879957\nPhenotypes for gene: PCCA were set to Propionicacidemia, MIM#\t606054\nReview for gene: PCCA was set to GREEN\nAdded comment: The neonatal form is frequently accompanied by metabolic acidosis with anion gap, ketonuria, hypoglycemia, hyperammonemia, and cytopenia. A late-onset form in older children and adults is pertinent to this panel as it has a milder phenotype. It is less common, and may present with developmental regression, chronic vomiting, protein intolerance, failure to thrive, hypotonia, and occasionally basal ganglia infarction, which may result in dystonia and choreoathetosis, and cardiomyopathy. \nSources: Expert list","entity_name":"PCCA","entity_type":"gene"},{"created":"2020-09-06T18:34:10.482924+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF1C as ready","entity_name":"KIF1C","entity_type":"gene"},{"created":"2020-09-06T18:34:10.470906+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif1c has been classified as Green List (High Evidence).","entity_name":"KIF1C","entity_type":"gene"},{"created":"2020-09-06T18:34:04.181005+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KIF1C were set to ","entity_name":"KIF1C","entity_type":"gene"},{"created":"2020-09-06T18:33:52.258976+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KIF1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 24319291, 31413903, 29544888; Phenotypes: Spastic ataxia 2, autosomal recessive, MIM# 611302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KIF1C","entity_type":"gene"},{"created":"2020-09-06T18:33:17.119921+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.223","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KIF1C were set to ","entity_name":"KIF1C","entity_type":"gene"},{"created":"2020-09-06T18:33:03.807342+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.222","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KIF1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 24319291, 31413903, 29544888; Phenotypes: Spastic ataxia 2, autosomal recessive, MIM# 611302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KIF1C","entity_type":"gene"},{"created":"2020-09-06T18:31:22.119404+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4241","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF1C as ready","entity_name":"KIF1C","entity_type":"gene"},{"created":"2020-09-06T18:31:22.109873+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4241","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif1c has been classified as Green List (High Evidence).","entity_name":"KIF1C","entity_type":"gene"},{"created":"2020-09-06T18:31:16.193313+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4241","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIF1C were changed from  to Spastic ataxia 2, autosomal recessive, MIM# 611302","entity_name":"KIF1C","entity_type":"gene"},{"created":"2020-09-06T18:30:55.924990+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4240","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KIF1C were set to ","entity_name":"KIF1C","entity_type":"gene"},{"created":"2020-09-06T18:30:36.538530+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4239","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KIF1C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"KIF1C","entity_type":"gene"},{"created":"2020-09-06T18:30:18.757516+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4238","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KIF1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 24319291, 31413903, 29544888; Phenotypes: Spastic ataxia 2, autosomal recessive, MIM# 611302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KIF1C","entity_type":"gene"},{"created":"2020-09-06T18:25:57.789118+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF1C as ready","entity_name":"KIF1C","entity_type":"gene"},{"created":"2020-09-06T18:25:57.778614+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif1c has been classified as Amber List (Moderate Evidence).","entity_name":"KIF1C","entity_type":"gene"},{"created":"2020-09-06T18:25:45.163734+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIF1C as Amber List (moderate evidence)","entity_name":"KIF1C","entity_type":"gene"},{"created":"2020-09-06T18:25:45.149198+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif1c has been classified as Amber List (Moderate Evidence).","entity_name":"KIF1C","entity_type":"gene"},{"created":"2020-09-06T18:25:35.505642+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KIF1C was added\ngene: KIF1C was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: KIF1C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF1C were set to 31413903\nPhenotypes for gene: KIF1C were set to Spastic ataxia 2, autosomal recessive, MIM#\t611302\nReview for gene: KIF1C was set to AMBER\nAdded comment: Neurologic disorder characterized by onset in the first 2 decades of cerebellar ataxia, dysarthria, and variable spasticity of the lower limbs. At least one report of a more complex movement disorder including dystonia. \nSources: Expert list","entity_name":"KIF1C","entity_type":"gene"},{"created":"2020-09-06T16:47:20.487754+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNA2 as ready","entity_name":"KCNA2","entity_type":"gene"},{"created":"2020-09-06T16:47:20.478068+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.42","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":"2020-09-06T16:47:17.589404+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNA2 were changed from  to Episodic ataxia; Epileptic encephalopathy, early infantile, 32, MIM# 616366","entity_name":"KCNA2","entity_type":"gene"},{"created":"2020-09-06T16:46:50.981989+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNA2 were set to ","entity_name":"KCNA2","entity_type":"gene"},{"created":"2020-09-06T16:46:24.458244+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.40","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":"2020-09-06T16:46:01.591486+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KCNA2: Changed rating: GREEN","entity_name":"KCNA2","entity_type":"gene"},{"created":"2020-09-06T16:45:52.784769+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KCNA2: Rating: ; Mode of pathogenicity: None; Publications: 27733563, 27543892, 25477152; Phenotypes: Episodic ataxia, Epileptic encephalopathy, early infantile, 32 616366; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNA2","entity_type":"gene"},{"created":"2020-09-06T16:08:36.878028+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.846","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IRF2BPL as ready","entity_name":"IRF2BPL","entity_type":"gene"},{"created":"2020-09-06T16:08:36.867618+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.846","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: irf2bpl has been classified as Green List (High Evidence).","entity_name":"IRF2BPL","entity_type":"gene"},{"created":"2020-09-06T16:08:34.126778+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.846","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IRF2BPL were changed from  to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM# 618088","entity_name":"IRF2BPL","entity_type":"gene"},{"created":"2020-09-06T16:08:07.717193+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.845","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IRF2BPL were set to ","entity_name":"IRF2BPL","entity_type":"gene"},{"created":"2020-09-06T16:07:39.586771+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.844","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IRF2BPL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"IRF2BPL","entity_type":"gene"},{"created":"2020-09-06T16:07:08.500947+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.843","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IRF2BPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 30057031, 30166628; 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":"2020-09-06T16:03:05.112017+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACTB as ready","entity_name":"ACTB","entity_type":"gene"},{"created":"2020-09-06T16:03:05.101316+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: actb has been classified as Green List (High Evidence).","entity_name":"ACTB","entity_type":"gene"},{"created":"2020-09-06T16:02:58.581867+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: ACTB was changed from  to Other","entity_name":"ACTB","entity_type":"gene"},{"created":"2020-09-06T16:02:04.591357+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAJC12 as ready","entity_name":"DNAJC12","entity_type":"gene"},{"created":"2020-09-06T16:02:04.578996+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajc12 has been classified as Green List (High Evidence).","entity_name":"DNAJC12","entity_type":"gene"},{"created":"2020-09-06T16:00:33.710138+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNAO1 as ready","entity_name":"GNAO1","entity_type":"gene"},{"created":"2020-09-06T16:00:33.700381+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnao1 has been classified as Green List (High Evidence).","entity_name":"GNAO1","entity_type":"gene"},{"created":"2020-09-06T16:00:30.354994+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GNAO1 were set to ","entity_name":"GNAO1","entity_type":"gene"},{"created":"2020-09-06T15:59:58.639362+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: GNAO1 was changed from  to Other","entity_name":"GNAO1","entity_type":"gene"},{"created":"2020-09-06T15:59:08.332328+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CACNA1A as ready","entity_name":"CACNA1A","entity_type":"gene"},{"created":"2020-09-06T15:59:08.321716+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacna1a has been classified as Green List (High Evidence).","entity_name":"CACNA1A","entity_type":"gene"},{"created":"2020-09-06T15:58:30.931383+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDHX as ready","entity_name":"PDHX","entity_type":"gene"},{"created":"2020-09-06T15:58:30.914122+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdhx has been classified as Green List (High Evidence).","entity_name":"PDHX","entity_type":"gene"},{"created":"2020-09-06T15:58:05.002697+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RNASEH2B as ready","entity_name":"RNASEH2B","entity_type":"gene"},{"created":"2020-09-06T15:58:04.992689+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnaseh2b has been classified as Green List (High Evidence).","entity_name":"RNASEH2B","entity_type":"gene"},{"created":"2020-09-06T15:57:38.330936+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RNASEH2C as ready","entity_name":"RNASEH2C","entity_type":"gene"},{"created":"2020-09-06T15:57:38.313582+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnaseh2c has been classified as Green List (High Evidence).","entity_name":"RNASEH2C","entity_type":"gene"},{"created":"2020-09-06T15:57:16.684731+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SNORD118 as ready","entity_name":"SNORD118","entity_type":"gene"},{"created":"2020-09-06T15:57:16.677121+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snord118 has been classified as Green List (High Evidence).","entity_name":"SNORD118","entity_type":"gene"},{"created":"2020-09-06T15:56:53.353222+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SUOX as ready","entity_name":"SUOX","entity_type":"gene"},{"created":"2020-09-06T15:56:53.342017+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: suox has been classified as Green List (High Evidence).","entity_name":"SUOX","entity_type":"gene"},{"created":"2020-09-06T15:56:29.799811+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SYT1 as ready","entity_name":"SYT1","entity_type":"gene"},{"created":"2020-09-06T15:56:29.790260+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: syt1 has been classified as Green List (High Evidence).","entity_name":"SYT1","entity_type":"gene"},{"created":"2020-09-06T15:56:04.924096+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SAMHD1 as ready","entity_name":"SAMHD1","entity_type":"gene"},{"created":"2020-09-06T15:56:04.914541+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: samhd1 has been classified as Amber List (Moderate Evidence).","entity_name":"SAMHD1","entity_type":"gene"},{"created":"2020-09-06T15:55:44.430075+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AFG3L2 as ready","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2020-09-06T15:55:44.416557+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: afg3l2 has been classified as Red List (Low Evidence).","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2020-09-06T15:55:22.717395+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHMP2B as ready","entity_name":"CHMP2B","entity_type":"gene"},{"created":"2020-09-06T15:55:22.709823+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chmp2b has been classified as Red List (Low Evidence).","entity_name":"CHMP2B","entity_type":"gene"},{"created":"2020-09-06T15:55:02.520402+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EARS2 as ready","entity_name":"EARS2","entity_type":"gene"},{"created":"2020-09-06T15:55:02.506895+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ears2 has been classified as Red List (Low Evidence).","entity_name":"EARS2","entity_type":"gene"},{"created":"2020-09-06T15:54:44.632768+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GAMT as ready","entity_name":"GAMT","entity_type":"gene"},{"created":"2020-09-06T15:54:44.621489+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gamt has been classified as Red List (Low Evidence).","entity_name":"GAMT","entity_type":"gene"},{"created":"2020-09-06T15:54:28.160047+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNQ2 as ready","entity_name":"KCNQ2","entity_type":"gene"},{"created":"2020-09-06T15:54:28.152305+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnq2 has been classified as Red List (Low Evidence).","entity_name":"KCNQ2","entity_type":"gene"},{"created":"2020-09-06T15:54:09.514710+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAPT as ready","entity_name":"MAPT","entity_type":"gene"},{"created":"2020-09-06T15:54:09.502126+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mapt has been classified as Amber List (Moderate Evidence).","entity_name":"MAPT","entity_type":"gene"},{"created":"2020-09-06T15:54:05.391825+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAPT as Amber List (moderate evidence)","entity_name":"MAPT","entity_type":"gene"},{"created":"2020-09-06T15:54:05.381210+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mapt has been classified as Amber List (Moderate Evidence).","entity_name":"MAPT","entity_type":"gene"},{"created":"2020-09-06T15:53:38.841690+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAT1A as ready","entity_name":"MAT1A","entity_type":"gene"},{"created":"2020-09-06T15:53:38.831250+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mat1a has been classified as Red List (Low Evidence).","entity_name":"MAT1A","entity_type":"gene"},{"created":"2020-09-06T15:53:24.563212+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MMADHC as ready","entity_name":"MMADHC","entity_type":"gene"},{"created":"2020-09-06T15:53:24.540788+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mmadhc has been classified as Red List (Low Evidence).","entity_name":"MMADHC","entity_type":"gene"},{"created":"2020-09-06T15:52:55.128329+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MPV17 as ready","entity_name":"MPV17","entity_type":"gene"},{"created":"2020-09-06T15:52:55.094687+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mpv17 has been classified as Red List (Low Evidence).","entity_name":"MPV17","entity_type":"gene"},{"created":"2020-09-06T15:52:38.541707+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLP1 as ready","entity_name":"PLP1","entity_type":"gene"},{"created":"2020-09-06T15:52:38.531641+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plp1 has been classified as Red List (Low Evidence).","entity_name":"PLP1","entity_type":"gene"},{"created":"2020-09-06T15:52:22.130578+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RNASEH2A as ready","entity_name":"RNASEH2A","entity_type":"gene"},{"created":"2020-09-06T15:52:22.122056+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnaseh2a has been classified as Red List (Low Evidence).","entity_name":"RNASEH2A","entity_type":"gene"},{"created":"2020-09-06T15:52:06.537570+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VPS37A as ready","entity_name":"VPS37A","entity_type":"gene"},{"created":"2020-09-06T15:52:06.529511+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps37a has been classified as Red List (Low Evidence).","entity_name":"VPS37A","entity_type":"gene"},{"created":"2020-09-06T15:51:33.698418+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TOR1AIP1 as ready","entity_name":"TOR1AIP1","entity_type":"gene"},{"created":"2020-09-06T15:51:33.690329+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tor1aip1 has been classified as Red List (Low Evidence).","entity_name":"TOR1AIP1","entity_type":"gene"},{"created":"2020-09-06T15:51:13.417309+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UNC80 as ready","entity_name":"UNC80","entity_type":"gene"},{"created":"2020-09-06T15:51:13.408628+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: unc80 has been classified as Red List (Low Evidence).","entity_name":"UNC80","entity_type":"gene"},{"created":"2020-09-06T15:48:56.713986+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HPRT1 as ready","entity_name":"HPRT1","entity_type":"gene"},{"created":"2020-09-06T15:48:56.701851+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hprt1 has been classified as Green List (High Evidence).","entity_name":"HPRT1","entity_type":"gene"},{"created":"2020-09-06T15:48:48.415618+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HPRT1 were set to ","entity_name":"HPRT1","entity_type":"gene"},{"created":"2020-09-06T15:48:33.278216+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HPRT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301328; Phenotypes: Lesch-Nyhan syndrome, MIM# 300322; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"HPRT1","entity_type":"gene"},{"created":"2020-09-06T15:43:15.522536+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HIBCH as ready","entity_name":"HIBCH","entity_type":"gene"},{"created":"2020-09-06T15:43:15.514963+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hibch has been classified as Green List (High Evidence).","entity_name":"HIBCH","entity_type":"gene"},{"created":"2020-09-06T15:42:55.283441+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HIBCH as Green List (high evidence)","entity_name":"HIBCH","entity_type":"gene"},{"created":"2020-09-06T15:42:55.274199+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hibch has been classified as Green List (High Evidence).","entity_name":"HIBCH","entity_type":"gene"},{"created":"2020-09-06T15:42:45.662316+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HIBCH was added\ngene: HIBCH was added to Dystonia - complex. Sources: Expert Review\nMode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HIBCH were set to 26026795; 25251209; 24299452; 32677093\nPhenotypes for gene: HIBCH were set to 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM#\t250620\nReview for gene: HIBCH was set to GREEN\nAdded comment: Autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia. Dystonia is a feature. \nSources: Expert Review","entity_name":"HIBCH","entity_type":"gene"},{"created":"2020-09-06T15:40:43.659175+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HIBCH as ready","entity_name":"HIBCH","entity_type":"gene"},{"created":"2020-09-06T15:40:43.650105+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hibch has been classified as Green List (High Evidence).","entity_name":"HIBCH","entity_type":"gene"},{"created":"2020-09-06T15:40:39.880710+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HIBCH as Green List (high evidence)","entity_name":"HIBCH","entity_type":"gene"},{"created":"2020-09-06T15:40:39.870629+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hibch has been classified as Green List (High Evidence).","entity_name":"HIBCH","entity_type":"gene"},{"created":"2020-09-06T15:40:13.598682+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HIBCH was added\ngene: HIBCH was added to Regression. Sources: Expert list\nMode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HIBCH were set to 26026795; 25251209; 24299452; 32677093\nPhenotypes for gene: HIBCH were set to 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM#\t250620\nReview for gene: HIBCH was set to GREEN\nAdded comment: Autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia. Multiple unrelated families reported. \nSources: Expert list","entity_name":"HIBCH","entity_type":"gene"}]}