{"count":220790,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1593","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1591","results":[{"created":"2020-09-13T17:21:56.584712+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4399","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TGM6 as Red List (low evidence)","entity_name":"TGM6","entity_type":"gene"},{"created":"2020-09-13T17:21:56.573943+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4399","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tgm6 has been classified as Red List (Low Evidence).","entity_name":"TGM6","entity_type":"gene"},{"created":"2020-09-13T17:21:39.860261+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4398","user_name":"Zornitza Stark","item_type":"entity","text":"Tag refuted tag was added to gene: TGM6.","entity_name":"TGM6","entity_type":"gene"},{"created":"2020-09-13T17:21:26.818595+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4398","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"TGM6","entity_type":"gene"},{"created":"2020-09-13T17:21:15.223321+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TGM6 were changed from  to Spinocerebellar ataxia 35, MIM# 613908","entity_name":"TGM6","entity_type":"gene"},{"created":"2020-09-13T17:21:14.524207+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4398","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TGM6: Rating: RED; Mode of pathogenicity: None; Publications: 30670339, 32426513; Phenotypes: Spinocerebellar ataxia 35, MIM# 613908; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TGM6","entity_type":"gene"},{"created":"2020-09-13T17:20:54.469475+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.160","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TGM6 were set to ","entity_name":"TGM6","entity_type":"gene"},{"created":"2020-09-13T17:20:27.416775+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.159","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TGM6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TGM6","entity_type":"gene"},{"created":"2020-09-13T17:19:57.945039+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TGM6 as Red List (low evidence)","entity_name":"TGM6","entity_type":"gene"},{"created":"2020-09-13T17:19:57.934354+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tgm6 has been classified as Red List (Low Evidence).","entity_name":"TGM6","entity_type":"gene"},{"created":"2020-09-13T17:19:25.650798+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: TGM6.","entity_name":"TGM6","entity_type":"gene"},{"created":"2020-09-13T17:18:58.103949+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TGM6: Added comment: Recent publication refutes the association of this gene with SCA:\r\nIn a Chinese exome sequencing cohort, 8 families were identified with reported TGM6 variants sharing no features of SCA35. These variants were significantly more common in the East Asian gnomAD sub-population than in other ethnic groups (P < 0.0001). Gene constraint metrics showed that both missense and loss-of-function variants in TGM6 are likely to be tolerated and there is no regional constraint. Inflation analysis demonstrated that the cumulative frequency of TGM6 reported pathogenic variants is at least 111-fold inflated over disease prevalence of all autosomal dominant SCAs, indicating a high chance of misdiagnosis or low penetrance.; Changed publications: 30670339, 32426513","entity_name":"TGM6","entity_type":"gene"},{"created":"2020-09-13T17:17:48.871922+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TGM6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 35, MIM# 613908; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TGM6","entity_type":"gene"},{"created":"2020-09-13T17:01:09.507777+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3007","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: SVBP.","entity_name":"SVBP","entity_type":"gene"},{"created":"2020-09-13T17:01:00.798781+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3007","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SVBP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, OMIM #618569; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SVBP","entity_type":"gene"},{"created":"2020-09-13T17:00:30.079190+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.481","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: SVBP.","entity_name":"SVBP","entity_type":"gene"},{"created":"2020-09-13T17:00:21.493754+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.481","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: 5 unrelated families with homozygous mutations in SVBP. The mutations segregated with the disorder in all families. In vitro functional cellular expression studies showed that protein levels of the SVBP mutants were barely detectable, suggesting instability, and that the mutant proteins had lost VASH/SVBP catalytic detyrosination activity toward tubulin. Knockdown of about 50% Svbp expression using shRNA in rat hippocampal neurons impaired the formation of excitatory synapses compared to controls. \nSources: Literature; to: 5 unrelated families with homozygous mutations in SVBP. Some shared the same founder variant, p.Q28*. The mutations segregated with the disorder in all families. In vitro functional cellular expression studies showed that protein levels of the SVBP mutants were barely detectable, suggesting instability, and that the mutant proteins had lost VASH/SVBP catalytic detyrosination activity toward tubulin. Knockdown of about 50% Svbp expression using shRNA in rat hippocampal neurons impaired the formation of excitatory synapses compared to controls. \r\nSources: Literature","entity_name":"SVBP","entity_type":"gene"},{"created":"2020-09-13T16:59:55.281051+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4398","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: SVBP.","entity_name":"SVBP","entity_type":"gene"},{"created":"2020-09-13T16:59:42.486378+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4398","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: 5 unrelated families with homozygous mutations in SVBP. The mutations segregated with the disorder in all families. In vitro functional cellular expression studies showed that protein levels of the SVBP mutants were barely detectable, suggesting instability, and that the mutant proteins had lost VASH/SVBP catalytic detyrosination activity toward tubulin. Knockdown of about 50% Svbp expression using shRNA in rat hippocampal neurons impaired the formation of excitatory synapses compared to controls. \nSources: Literature; to: 5 unrelated families with homozygous mutations in SVBP. Some shared the same founder variant, p.Q28*. The mutations segregated with the disorder in all families. In vitro functional cellular expression studies showed that protein levels of the SVBP mutants were barely detectable, suggesting instability, and that the mutant proteins had lost VASH/SVBP catalytic detyrosination activity toward tubulin. Knockdown of about 50% Svbp expression using shRNA in rat hippocampal neurons impaired the formation of excitatory synapses compared to controls. \r\nSources: Literature","entity_name":"SVBP","entity_type":"gene"},{"created":"2020-09-13T16:58:48.454054+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.257","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: SVBP.","entity_name":"SVBP","entity_type":"gene"},{"created":"2020-09-13T16:58:40.529181+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.257","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: 5 unrelated families with homozygous mutations in SVBP; syndromic cause of paediatric ataxia. The mutations segregated with the disorder in all families. In vitro functional cellular expression studies showed that protein levels of the SVBP mutants were barely detectable, suggesting instability, and that the mutant proteins had lost VASH/SVBP catalytic detyrosination activity toward tubulin. Knockdown of about 50% Svbp expression using shRNA in rat hippocampal neurons impaired the formation of excitatory synapses compared to controls. \nSources: Literature; to: 5 unrelated families with homozygous mutations in SVBP; syndromic cause of paediatric ataxia. Some shared the same founder variant, p.Q28*. The mutations segregated with the disorder in all families. In vitro functional cellular expression studies showed that protein levels of the SVBP mutants were barely detectable, suggesting instability, and that the mutant proteins had lost VASH/SVBP catalytic detyrosination activity toward tubulin. Knockdown of about 50% Svbp expression using shRNA in rat hippocampal neurons impaired the formation of excitatory synapses compared to controls. \r\nSources: Literature","entity_name":"SVBP","entity_type":"gene"},{"created":"2020-09-13T16:53:41.715966+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4398","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SQSTM1 as ready","entity_name":"SQSTM1","entity_type":"gene"},{"created":"2020-09-13T16:53:41.705388+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4398","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sqstm1 has been classified as Green List (High Evidence).","entity_name":"SQSTM1","entity_type":"gene"},{"created":"2020-09-13T16:53:35.409608+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4398","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SQSTM1 were changed from  to Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145","entity_name":"SQSTM1","entity_type":"gene"},{"created":"2020-09-13T16:53:20.323309+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4397","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SQSTM1 were set to ","entity_name":"SQSTM1","entity_type":"gene"},{"created":"2020-09-13T16:53:03.715619+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4396","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SQSTM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SQSTM1","entity_type":"gene"},{"created":"2020-09-13T16:52:47.481273+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4395","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Four unrelated families, presenting feature of this progressive neurological disorder was ataxia.; to: Nine individuals from four unrelated families. ","entity_name":"SQSTM1","entity_type":"gene"},{"created":"2020-09-13T16:30:10.630902+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.257","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Generally presents with a range of neuropathies but ataxia described.; to: Generally presents with a range of neuropathies but ataxia described. Treatable condition.","entity_name":"SLC52A2","entity_type":"gene"},{"created":"2020-09-13T16:30:00.524388+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.257","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC52A2: Changed publications: 30377535","entity_name":"SLC52A2","entity_type":"gene"},{"created":"2020-09-13T16:25:56.709393+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.257","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC44A1: Changed phenotypes: Childhood-onset neurodegeneration, progressive ataxia tremor cognitive decline dysphagia optic atrophy dysarthria, Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, MIM# 618868","entity_name":"SLC44A1","entity_type":"gene"},{"created":"2020-09-13T16:25:10.149818+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.490","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC25A46 as ready","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2020-09-13T16:25:10.137557+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.490","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc25a46 has been classified as Green List (High Evidence).","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2020-09-13T16:25:07.647838+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.490","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC25A46 were changed from  to Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2020-09-13T16:24:37.064031+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.489","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC25A46 were set to ","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2020-09-13T16:24:10.734834+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.488","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC25A46 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2020-09-13T16:23:43.263734+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.487","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: None; Publications: 30178502, 26168012, 27543974, 27430653, 27390132, 28934388, 28558379; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2020-09-13T16:22:22.520601+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4395","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC25A46 as ready","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2020-09-13T16:22:22.512533+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4395","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc25a46 has been classified as Green List (High Evidence).","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2020-09-13T16:22:15.986250+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4395","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC25A46 were changed from  to Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2020-09-13T16:21:49.224995+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4394","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC25A46 were set to ","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2020-09-13T16:21:30.960340+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4393","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC25A46 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2020-09-13T16:21:14.892013+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4392","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Age of onset is variable, but childhood onset described. Ataxia is a feature.; to: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus.\r\n\r\nAt least 10 unrelated families reported, supportive functional data.","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2020-09-13T16:21:00.067022+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4392","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC25A46: Changed publications: 30178502, 26168012, 27543974, 27430653, 27390132, 28934388, 28558379","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2020-09-13T16:19:20.091412+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.257","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC25A46 were changed from Hereditary motor and sensory neuropathy type VIB, 616505 to Hereditary motor and sensory neuropathy type VIB, MIM#616505","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2020-09-13T16:19:11.152662+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.256","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC25A46 were set to ","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2020-09-13T16:18:32.203568+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus.\r\n\r\nNine unrelated families reported, supportive functional data.; to: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus.\r\n\r\nAt least 10 unrelated families reported, supportive functional data.","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2020-09-13T16:18:22.928499+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC25A46: Changed publications: 30178502, 26168012, 27543974, 27430653, 27390132, 28934388, 28558379","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2020-09-13T16:16:34.474700+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Age of onset is variable, but childhood onset described. Ataxia is a feature.; to: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus.\r\n\r\nNine unrelated families reported, supportive functional data.","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2020-09-13T16:12:41.851432+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC25A46: Changed publications: 30178502","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2020-09-13T16:10:53.974751+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC17A5 were set to ","entity_name":"SLC17A5","entity_type":"gene"},{"created":"2020-09-13T16:10:03.619201+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.254","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC17A5: Changed publications: 26171070","entity_name":"SLC17A5","entity_type":"gene"},{"created":"2020-09-13T16:06:36.205896+10:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SOS2 as ready","entity_name":"SOS2","entity_type":"gene"},{"created":"2020-09-13T16:06:36.190737+10:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sos2 has been classified as Green List (High Evidence).","entity_name":"SOS2","entity_type":"gene"},{"created":"2020-09-12T17:59:36.208814+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.254","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Childhood onset.; to: Childhood onset, at least 7 unrelated families reported.","entity_name":"SCYL1","entity_type":"gene"},{"created":"2020-09-12T17:55:38.953266+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.254","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCN8A as ready","entity_name":"SCN8A","entity_type":"gene"},{"created":"2020-09-12T17:55:38.942778+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.254","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scn8a has been classified as Green List (High Evidence).","entity_name":"SCN8A","entity_type":"gene"},{"created":"2020-09-12T17:55:37.056347+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.254","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCN8A were changed from epilepsy; Benign familial infantile seizures 5, 617080; paroxysmal kinesigenic dyskinesias; Epileptic encephalopathy 13, 614558; Cognitive impairment with or without cerebellar ataxia, 614306 to Epileptic encephalopathy 13, 614558; Cognitive impairment with or without cerebellar ataxia, 614306","entity_name":"SCN8A","entity_type":"gene"},{"created":"2020-09-12T17:55:24.457761+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.253","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SCN8A were set to ","entity_name":"SCN8A","entity_type":"gene"},{"created":"2020-09-12T17:55:09.732633+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.252","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 31904124, 31887642, 31675620; Phenotypes: Cognitive impairment with or without cerebellar ataxia, MIM# 614306, Epileptic encephalopathy, early infantile, 13, MIM# 614558; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SCN8A","entity_type":"gene"},{"created":"2020-09-12T17:51:43.599816+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.252","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Classically presents with seizures and DD/ID although a range of other manifestations reported, including movement abnormalities, including ataxia.; to: Classically presents with seizures and DD/ID although a range of other manifestations reported, including movement abnormalities, including ataxia, especially episodic ataxia.","entity_name":"SCN2A","entity_type":"gene"},{"created":"2020-09-12T17:51:32.235302+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.252","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SCN2A: Changed publications: 31924505, 32893078, 31904126","entity_name":"SCN2A","entity_type":"gene"},{"created":"2020-09-12T17:50:05.484312+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.252","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SCN1A were set to ","entity_name":"SCN1A","entity_type":"gene"},{"created":"2020-09-12T17:49:55.432685+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.251","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SCN1A: Changed publications: 27264139, 27817982, 28732259","entity_name":"SCN1A","entity_type":"gene"},{"created":"2020-09-12T17:42:06.714368+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.251","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Two consanguineous families reported in the literature with homozygous truncating variants in this gene and ataxia.; to: Three consanguineous families reported in the literature with homozygous truncating variants in this gene and ataxia. Two have the same founder variant.","entity_name":"RUBCN","entity_type":"gene"},{"created":"2020-09-12T17:41:50.423257+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.251","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RUBCN: Changed publications: 20826435, 30237576, 32450808","entity_name":"RUBCN","entity_type":"gene"},{"created":"2020-09-12T17:37:41.623474+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.860","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RORA as ready","entity_name":"RORA","entity_type":"gene"},{"created":"2020-09-12T17:37:41.602963+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.860","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rora has been classified as Green List (High Evidence).","entity_name":"RORA","entity_type":"gene"},{"created":"2020-09-12T17:37:39.181611+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.860","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RORA were changed from  to Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM# 618060","entity_name":"RORA","entity_type":"gene"},{"created":"2020-09-12T17:37:14.608068+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.859","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RORA were set to ","entity_name":"RORA","entity_type":"gene"},{"created":"2020-09-12T17:36:48.739454+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.858","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RORA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RORA","entity_type":"gene"},{"created":"2020-09-12T17:36:20.980673+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.857","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RORA: Rating: GREEN; Mode of pathogenicity: None; Publications: 29656859; Phenotypes: Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM# 618060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RORA","entity_type":"gene"},{"created":"2020-09-12T17:35:33.749814+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4392","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RORA as ready","entity_name":"RORA","entity_type":"gene"},{"created":"2020-09-12T17:35:33.741833+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4392","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rora has been classified as Green List (High Evidence).","entity_name":"RORA","entity_type":"gene"},{"created":"2020-09-12T17:35:27.382176+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4392","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RORA were changed from  to Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM# 618060","entity_name":"RORA","entity_type":"gene"},{"created":"2020-09-12T17:35:10.966143+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4391","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RORA were set to ","entity_name":"RORA","entity_type":"gene"},{"created":"2020-09-12T17:34:54.588345+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4390","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RORA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RORA","entity_type":"gene"},{"created":"2020-09-12T17:34:33.793710+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4389","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RORA: Rating: GREEN; Mode of pathogenicity: None; Publications: 29656859; Phenotypes: Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM# 618060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RORA","entity_type":"gene"},{"created":"2020-09-12T17:33:53.331266+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.251","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: 11 unrelated individuals with syndromic intellectual disability and de novo variants in this gene. Severity varied from  mild borderline intellectual disability with mild speech delay or normal speech, through to severe cognitive impairment with poor or absent speech. Most had ataxia, hypotonia, poor coordination, and/or mild tremor, suggesting cerebellar dysfunction. Three individuals had documented cerebellar hypoplasia or pontocerebellar atrophy on brain imaging. Seven had seizures of variable types, including neonatal myoclonic, tonic-clonic, multifocal, generalized, and absence. Five were diagnosed with autism spectrum disorder. More variable features included strabismus, esotropia, nystagmus, and oculomotor apraxia; to: 11 unrelated individuals with syndromic intellectual disability and de novo variants in this gene. Severity varied from  mild borderline intellectual disability with mild speech delay or normal speech, through to severe cognitive impairment with poor or absent speech. Most had ataxia, hypotonia, poor coordination, and/or mild tremor, suggesting cerebellar dysfunction. Three individuals had documented cerebellar hypoplasia or pontocerebellar atrophy on brain imaging. Seven had seizures of variable types, including neonatal myoclonic, tonic-clonic, multifocal, generalized, and absence. Five were diagnosed with autism spectrum disorder. More variable features included strabismus, esotropia, nystagmus, and oculomotor apraxia.\r\n\r\nPostulated that some variants exert dominant-negative effect resulting in a more severe phenotype than the LoF variants.","entity_name":"RORA","entity_type":"gene"},{"created":"2020-09-12T17:32:59.714912+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.251","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RORA as ready","entity_name":"RORA","entity_type":"gene"},{"created":"2020-09-12T17:32:59.706087+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.251","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rora has been classified as Green List (High Evidence).","entity_name":"RORA","entity_type":"gene"},{"created":"2020-09-12T17:32:56.811847+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.251","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RORA were set to ","entity_name":"RORA","entity_type":"gene"},{"created":"2020-09-12T17:32:45.939808+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.250","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RORA: Rating: GREEN; Mode of pathogenicity: None; Publications: 29656859; Phenotypes: Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM# 618060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RORA","entity_type":"gene"},{"created":"2020-09-12T17:19:54.995083+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.250","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRICKLE1 as ready","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2020-09-12T17:19:54.952307+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.250","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prickle1 has been classified as Green List (High Evidence).","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2020-09-12T17:19:50.819668+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.250","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRICKLE1 were set to ","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2020-09-12T17:19:39.042214+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PRICKLE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301774; Phenotypes: Epilepsy, progressive myoclonic 1B, MIM# 612437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2020-09-12T16:42:49.235999+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PEX7: Changed publications: 25851898","entity_name":"PEX7","entity_type":"gene"},{"created":"2020-09-12T16:39:21.099990+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: OPA1 were set to 30165240","entity_name":"OPA1","entity_type":"gene"},{"created":"2020-09-12T16:38:59.395488+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.248","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28494813; Phenotypes: Optic atrophy plus syndrome, MIM# 125250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"OPA1","entity_type":"gene"},{"created":"2020-09-12T16:26:57.538206+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.248","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MORC2 as ready","entity_name":"MORC2","entity_type":"gene"},{"created":"2020-09-12T16:26:57.527884+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.248","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: morc2 has been classified as Green List (High Evidence).","entity_name":"MORC2","entity_type":"gene"},{"created":"2020-09-12T16:26:53.579216+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.248","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MORC2 as Green List (high evidence)","entity_name":"MORC2","entity_type":"gene"},{"created":"2020-09-12T16:26:53.569279+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.248","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: morc2 has been classified as Green List (High Evidence).","entity_name":"MORC2","entity_type":"gene"},{"created":"2020-09-12T16:26:44.375800+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.247","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MORC2 was added\ngene: MORC2 was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MORC2 were set to 28402445\nPhenotypes for gene: MORC2 were set to Axonal type CMT disease type 2Z, 616688; Cerebellar ataxia\nReview for gene: MORC2 was set to GREEN\nAdded comment: The p.Thr362Arg variant has been reported as a de novo event in unrelated families with cerebellar ataxia in addition to CMT and nocturnal hypoventilation. \nSources: Expert list","entity_name":"MORC2","entity_type":"gene"},{"created":"2020-09-12T16:22:05.340987+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4389","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"MAPK8IP3","entity_type":"gene"},{"created":"2020-09-12T16:21:59.407975+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4389","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MAPK8IP3: Added comment: 18 unrelated individuals reported with de novo variants and a neurodevelopmental disorder characterised by global developmental delay, variably impaired intellectual development, and poor or absent speech. Additional features may include hypotonia, spasticity, or ataxia. About half have abnormal findings on brain imaging, including cerebral or cerebellar atrophy, loss of white matter volume, thin corpus callosum, and perisylvian polymicrogyria. Seizures are not a prominent finding, and nonspecific dysmorphic facial features are described.; Changed publications: 30612693, 30945334","entity_name":"MAPK8IP3","entity_type":"gene"},{"created":"2020-09-12T16:21:03.694724+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3007","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAPK8IP3 were set to 30612693","entity_name":"MAPK8IP3","entity_type":"gene"},{"created":"2020-09-12T16:20:29.526165+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":"reviewed gene: MAPK8IP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30612693, 30945334; Phenotypes: Neurodevelopmental disorder with or without variable brain abnormalities, MIM# 618443; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MAPK8IP3","entity_type":"gene"},{"created":"2020-09-12T16:17:00.378139+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.246","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAPK8IP3 were changed from Intellectual Disability with variable brain anomalies; Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431 to Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431","entity_name":"MAPK8IP3","entity_type":"gene"},{"created":"2020-09-12T16:16:47.330977+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.245","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAPK8IP3 were set to 30612693","entity_name":"MAPK8IP3","entity_type":"gene"}]}