{"count":220249,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1384","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1382","results":[{"created":"2021-03-15T13:40:26.586104+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CRB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25557780, 33687977, 32051522, 30212996, 33575434, 31438467, 30593785, 27004616; Phenotypes: Ventriculomegaly with cystic kidney disease, MIM# 219730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CRB2","entity_type":"gene"},{"created":"2021-03-15T13:37:41.266117+11:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CRB2 as ready","entity_name":"CRB2","entity_type":"gene"},{"created":"2021-03-15T13:37:41.255111+11:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: crb2 has been classified as Amber List (Moderate Evidence).","entity_name":"CRB2","entity_type":"gene"},{"created":"2021-03-15T13:37:36.262342+11:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CRB2 as Amber List (moderate evidence)","entity_name":"CRB2","entity_type":"gene"},{"created":"2021-03-15T13:37:36.253871+11:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: crb2 has been classified as Amber List (Moderate Evidence).","entity_name":"CRB2","entity_type":"gene"},{"created":"2021-03-15T13:37:25.313583+11:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CRB2 was added\ngene: CRB2 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review\nMode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CRB2 were set to 30593785; 31438467; 33575434; 30239717\nPhenotypes for gene: CRB2 were set to Retinitis pigmentosa\nReview for gene: CRB2 was set to AMBER\nAdded comment: Single family reported with isolated RP. Multiple lines of functional evidence support role of CRB2 in retinal epithelium. Families also reported with multi-system ciliopathy phenotype. \nSources: Expert Review","entity_name":"CRB2","entity_type":"gene"},{"created":"2021-03-15T13:32:50.970782+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.232","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CRB2 as ready","entity_name":"CRB2","entity_type":"gene"},{"created":"2021-03-15T13:32:50.959394+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.232","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: crb2 has been classified as Green List (High Evidence).","entity_name":"CRB2","entity_type":"gene"},{"created":"2021-03-15T13:32:48.016247+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.232","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CRB2 were changed from  to Ventriculomegaly with cystic kidney disease, MIM# 219730","entity_name":"CRB2","entity_type":"gene"},{"created":"2021-03-15T13:32:17.380809+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.231","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CRB2 were set to ","entity_name":"CRB2","entity_type":"gene"},{"created":"2021-03-15T13:31:50.645255+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.230","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CRB2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CRB2","entity_type":"gene"},{"created":"2021-03-15T13:31:31.153642+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.230","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CRB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CRB2","entity_type":"gene"},{"created":"2021-03-15T12:38:10.121166+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.229","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CRB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25557780, 33687977, 32051522, 30212996, 33575434, 31438467, 30593785; Phenotypes: Ventriculomegaly with cystic kidney disease, MIM# 219730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CRB2","entity_type":"gene"},{"created":"2021-03-15T12:35:24.609643+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.159","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CRB2 as ready","entity_name":"CRB2","entity_type":"gene"},{"created":"2021-03-15T12:35:24.598789+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.159","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: crb2 has been classified as Green List (High Evidence).","entity_name":"CRB2","entity_type":"gene"},{"created":"2021-03-15T12:35:22.115745+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.159","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CRB2 were changed from  to Ventriculomegaly with cystic kidney disease, MIM# 219730","entity_name":"CRB2","entity_type":"gene"},{"created":"2021-03-15T12:34:58.104669+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CRB2 were set to ","entity_name":"CRB2","entity_type":"gene"},{"created":"2021-03-15T12:34:28.814129+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CRB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CRB2","entity_type":"gene"},{"created":"2021-03-15T12:33:58.303047+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.156","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CRB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25557780, 33687977, 32051522, 30212996; Phenotypes: Ventriculomegaly with cystic kidney disease, MIM# 219730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CRB2","entity_type":"gene"},{"created":"2021-03-15T12:32:58.008718+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CRB2 were set to 25557780","entity_name":"CRB2","entity_type":"gene"},{"created":"2021-03-15T12:32:22.842887+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Three unrelated families described. \nSources: Expert list; to: More than 5 unrelated families reported, mouse model. \r\nSources: Expert list","entity_name":"CRB2","entity_type":"gene"},{"created":"2021-03-15T12:32:00.819205+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CRB2: Changed publications: 25557780, 33687977, 32051522, 30212996; Changed phenotypes: Ventriculomegaly with cystic kidney disease, MIM# 219730","entity_name":"CRB2","entity_type":"gene"},{"created":"2021-03-14T19:29:54.603858+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2021-03-14T19:28:36.803402+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.215","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPART as ready","entity_name":"SPART","entity_type":"gene"},{"created":"2021-03-14T19:28:36.794192+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.215","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spart has been classified as Green List (High Evidence).","entity_name":"SPART","entity_type":"gene"},{"created":"2021-03-14T19:28:33.813569+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.215","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPART were changed from Troyer syndrome; Spastic paraplegia 20, autosomal recessive to Troyer syndrome, MIM# 275900; SPG20; MONDO:0010156","entity_name":"SPART","entity_type":"gene"},{"created":"2021-03-14T19:28:18.237441+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.214","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: More than 5 unrelated families reported.; to: Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, pseudobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). More than 5 unrelated families reported.","entity_name":"SPART","entity_type":"gene"},{"created":"2021-03-14T19:27:43.181393+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.214","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SPART were set to ","entity_name":"SPART","entity_type":"gene"},{"created":"2021-03-14T19:27:17.961733+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.213","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SPART: Rating: GREEN; Mode of pathogenicity: None; Publications: 12134148, 20437587, 26003402, 27112432, 31535723, 31535723, 28875386, 28679690; Phenotypes: Troyer syndrome, MIM# 275900, SPG20, MONDO:0010156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPART","entity_type":"gene"},{"created":"2021-03-14T19:24:20.111140+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.213","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC2A1 as ready","entity_name":"SLC2A1","entity_type":"gene"},{"created":"2021-03-14T19:24:20.103073+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.213","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc2a1 has been classified as Green List (High Evidence).","entity_name":"SLC2A1","entity_type":"gene"},{"created":"2021-03-14T19:24:17.387276+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.213","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC2A1 were changed from Developmental delay; autosomal dominant, complicated hereditary spastic paraplegia (HSP); paroxysmal choreoathetosis; spastic paraplegia; seizure to GLUT1 deficiency syndrome 1, infantile onset, severe, MIM# 606777; Developmental delay; autosomal dominant, complicated hereditary spastic paraplegia (HSP); paroxysmal choreoathetosis; spastic paraplegia; seizure","entity_name":"SLC2A1","entity_type":"gene"},{"created":"2021-03-14T19:23:56.852756+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC2A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SLC2A1","entity_type":"gene"},{"created":"2021-03-14T19:23:41.827128+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: GLUT1 deficiency syndrome 1, infantile onset, severe, MIM# 606777; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SLC2A1","entity_type":"gene"},{"created":"2021-03-14T19:22:14.887353+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALS2 as ready","entity_name":"ALS2","entity_type":"gene"},{"created":"2021-03-14T19:22:14.878806+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: als2 has been classified as Green List (High Evidence).","entity_name":"ALS2","entity_type":"gene"},{"created":"2021-03-14T19:22:06.752276+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALS2 were changed from Primary lateral sclerosis, juvenile, autosomal recessive, 606353; Amyotrophic lateral sclerosis 2, autosomal recessive, juvenile, 205100; Spastic paralysis, infantile onset ascending,autosomal recessive, 607225 to Spastic paralysis, infantile onset ascending, MIM# 607225","entity_name":"ALS2","entity_type":"gene"},{"created":"2021-03-14T19:21:56.766331+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALS2 were set to ","entity_name":"ALS2","entity_type":"gene"},{"created":"2021-03-14T19:21:42.342537+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12145748, 12509863, 24315819; Phenotypes: Spastic paralysis, infantile onset ascending, MIM# 607225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALS2","entity_type":"gene"},{"created":"2021-03-14T19:11:08.493631+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC1A4 were changed from Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657; MONDO:0014725","entity_name":"SLC1A4","entity_type":"gene"},{"created":"2021-03-14T19:10:46.425422+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3519","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC1A4 were changed from Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM#\t616657 to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM#\t616657; MONDO:0014725","entity_name":"SLC1A4","entity_type":"gene"},{"created":"2021-03-14T19:10:13.811265+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3518","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: SLC1A4.","entity_name":"SLC1A4","entity_type":"gene"},{"created":"2021-03-14T19:09:38.459863+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.545","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC1A4 were changed from Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657 to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657; MONDO:0014725","entity_name":"SLC1A4","entity_type":"gene"},{"created":"2021-03-14T19:08:53.359436+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6724","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC1A4 were changed from Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657 to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657; MONDO:0014725","entity_name":"SLC1A4","entity_type":"gene"},{"created":"2021-03-14T19:08:29.664557+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1039","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC1A4 were changed from Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM#\t616657 to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM#\t616657; MONDO:0014725","entity_name":"SLC1A4","entity_type":"gene"},{"created":"2021-03-14T19:07:42.659557+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1038","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: SLC1A4.","entity_name":"SLC1A4","entity_type":"gene"},{"created":"2021-03-14T19:07:34.977741+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1038","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Multiple affected individuals reported in the literature, seizures/EE are part of the phenotype. While initial reports identified a recurrent missense variant in individuals of Ashkenazi Jewish ancestry, there have been more recent reports of individuals from other ethnic backgrounds with different variants \nSources: Expert list; to: Multiple affected individuals reported in the literature, seizures/EE are part of the phenotype. While initial reports identified a recurrent missense variant in individuals of Ashkenazi Jewish ancestry (p.Glu256Lys), there have been more recent reports of individuals from other ethnic backgrounds with different variants \r\nSources: Expert list","entity_name":"SLC1A4","entity_type":"gene"},{"created":"2021-03-14T19:06:50.300424+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6723","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC1A4 as ready","entity_name":"SLC1A4","entity_type":"gene"},{"created":"2021-03-14T19:06:50.291301+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6723","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc1a4 has been classified as Green List (High Evidence).","entity_name":"SLC1A4","entity_type":"gene"},{"created":"2021-03-14T19:06:43.134210+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6723","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC1A4 were changed from  to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657","entity_name":"SLC1A4","entity_type":"gene"},{"created":"2021-03-14T19:06:26.066622+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6722","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC1A4 were set to ","entity_name":"SLC1A4","entity_type":"gene"},{"created":"2021-03-14T19:06:07.005574+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6721","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC1A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC1A4","entity_type":"gene"},{"created":"2021-03-14T19:05:49.005701+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6720","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: SLC1A4.","entity_name":"SLC1A4","entity_type":"gene"},{"created":"2021-03-14T19:05:15.016948+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: SLC1A4.","entity_name":"SLC1A4","entity_type":"gene"},{"created":"2021-03-14T19:05:06.816403+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC1A4 as ready","entity_name":"SLC1A4","entity_type":"gene"},{"created":"2021-03-14T19:05:06.805167+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc1a4 has been classified as Green List (High Evidence).","entity_name":"SLC1A4","entity_type":"gene"},{"created":"2021-03-14T19:05:03.389290+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC1A4 were set to ","entity_name":"SLC1A4","entity_type":"gene"},{"created":"2021-03-14T19:04:48.381176+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC1A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25930971, 26138499, 26041762, 27193218, 29989513; Phenotypes: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC1A4","entity_type":"gene"},{"created":"2021-03-14T19:02:32.159032+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SERAC1 as ready","entity_name":"SERAC1","entity_type":"gene"},{"created":"2021-03-14T19:02:32.151629+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: serac1 has been classified as Green List (High Evidence).","entity_name":"SERAC1","entity_type":"gene"},{"created":"2021-03-14T19:02:19.224786+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SERAC1 were changed from MEGDEL syndrome; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, Autosomal dominant, 614739; MEGDHEL syndrome to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739","entity_name":"SERAC1","entity_type":"gene"},{"created":"2021-03-14T19:02:00.582278+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.206","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SERAC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SERAC1","entity_type":"gene"},{"created":"2021-03-14T19:00:39.685326+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.206","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CLPP as ready","entity_name":"CLPP","entity_type":"gene"},{"created":"2021-03-14T19:00:39.674913+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.206","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: clpp has been classified as Red List (Low Evidence).","entity_name":"CLPP","entity_type":"gene"},{"created":"2021-03-14T19:00:36.933521+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.206","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLPP were changed from Perrault syndrome 3 to Perrault syndrome 3 MIM#614129","entity_name":"CLPP","entity_type":"gene"},{"created":"2021-03-14T19:00:15.790590+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CLPP were set to ","entity_name":"CLPP","entity_type":"gene"},{"created":"2021-03-14T18:59:45.899984+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP1A1 as ready","entity_name":"ATP1A1","entity_type":"gene"},{"created":"2021-03-14T18:59:45.890927+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp1a1 has been classified as Red List (Low Evidence).","entity_name":"ATP1A1","entity_type":"gene"},{"created":"2021-03-14T18:59:11.723015+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: USP8 as ready","entity_name":"USP8","entity_type":"gene"},{"created":"2021-03-14T18:59:11.703300+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: usp8 has been classified as Amber List (Moderate Evidence).","entity_name":"USP8","entity_type":"gene"},{"created":"2021-03-14T18:57:41.668085+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFIH1 as ready","entity_name":"IFIH1","entity_type":"gene"},{"created":"2021-03-14T18:57:41.660007+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ifih1 has been classified as Green List (High Evidence).","entity_name":"IFIH1","entity_type":"gene"},{"created":"2021-03-14T18:57:32.527394+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IFIH1 were changed from Aicardi-Goutieres syndrome 7 to Aicardi-Goutieres syndrome 7 MIM#615846","entity_name":"IFIH1","entity_type":"gene"},{"created":"2021-03-14T18:57:17.717661+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.203","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IFIH1 were set to ","entity_name":"IFIH1","entity_type":"gene"},{"created":"2021-03-14T18:57:07.254290+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IFIH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"IFIH1","entity_type":"gene"},{"created":"2021-03-14T18:56:21.033074+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6720","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TFG as ready","entity_name":"TFG","entity_type":"gene"},{"created":"2021-03-14T18:56:21.025581+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6720","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tfg has been classified as Green List (High Evidence).","entity_name":"TFG","entity_type":"gene"},{"created":"2021-03-14T18:55:23.381651+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6720","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TFG were changed from  to Hereditary motor and sensory neuropathy, Okinawa type, MIM# 604484; Spastic paraplegia 57, autosomal recessive, MIM# 615658","entity_name":"TFG","entity_type":"gene"},{"created":"2021-03-14T18:54:35.570122+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6719","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TFG was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TFG","entity_type":"gene"},{"created":"2021-03-14T18:54:17.302461+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6718","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TFG: Rating: GREEN; Mode of pathogenicity: None; Publications: 30467354, 30157421, 28124177, 27601211, 27492651, 23479643, 25098539, 23553329, 22883144, 31449671, 31111683; Phenotypes: Hereditary motor and sensory neuropathy, Okinawa type, MIM# 604484, Spastic paraplegia 57, autosomal recessive, MIM# 615658; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TFG","entity_type":"gene"},{"created":"2021-03-14T18:50:05.146705+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TFG as ready","entity_name":"TFG","entity_type":"gene"},{"created":"2021-03-14T18:50:05.131468+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tfg has been classified as Green List (High Evidence).","entity_name":"TFG","entity_type":"gene"},{"created":"2021-03-14T18:50:01.811157+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TFG were changed from ?Spastic paraplegia 57, autosomal recessive 615658,AR; Hereditary motor and sensory neuropathy, Okinawa type, 604484, AD to Spastic paraplegia 57, autosomal recessive, MIM# 615658","entity_name":"TFG","entity_type":"gene"},{"created":"2021-03-14T18:49:44.497015+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TFG were set to ","entity_name":"TFG","entity_type":"gene"},{"created":"2021-03-14T18:49:28.380212+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.199","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TFG: Rating: GREEN; Mode of pathogenicity: None; Publications: 30467354, 30157421, 28124177, 27601211, 27492651, 23479643; Phenotypes: Spastic paraplegia 57, autosomal recessive, MIM# 615658; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TFG","entity_type":"gene"},{"created":"2021-03-14T18:42:00.951161+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UCHL1 as ready","entity_name":"UCHL1","entity_type":"gene"},{"created":"2021-03-14T18:42:00.942579+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: uchl1 has been classified as Green List (High Evidence).","entity_name":"UCHL1","entity_type":"gene"},{"created":"2021-03-14T18:41:57.917775+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UCHL1 were changed from  to Spastic paraplegia 79, autosomal recessive, MIM# 615491; MONDO:0014209","entity_name":"UCHL1","entity_type":"gene"},{"created":"2021-03-14T18:41:30.217476+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.248","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UCHL1 were set to ","entity_name":"UCHL1","entity_type":"gene"},{"created":"2021-03-14T18:41:01.255163+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.247","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: UCHL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"UCHL1","entity_type":"gene"},{"created":"2021-03-14T18:40:28.426542+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.246","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23359680, 3340629, 28007905, 32656641, 29735986, 28007905; Phenotypes: Spastic paraplegia 79, autosomal recessive, MIM# 615491, MONDO:0014209; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"UCHL1","entity_type":"gene"},{"created":"2021-03-14T18:39:01.238982+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.199","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UCHL1 as ready","entity_name":"UCHL1","entity_type":"gene"},{"created":"2021-03-14T18:39:01.229128+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.199","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: uchl1 has been classified as Green List (High Evidence).","entity_name":"UCHL1","entity_type":"gene"},{"created":"2021-03-14T18:38:58.516725+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.199","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UCHL1 were changed from Spastic paraplegia 79, autosomal recessive, 615491, AR to Spastic paraplegia 79, autosomal recessive, 615491; MONDO:0014209","entity_name":"UCHL1","entity_type":"gene"},{"created":"2021-03-14T18:37:36.154821+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.198","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UCHL1 were set to ","entity_name":"UCHL1","entity_type":"gene"},{"created":"2021-03-14T18:37:15.811292+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23359680, 3340629, 28007905, 32656641, 29735986, 28007905; Phenotypes: Spastic paraplegia 79, autosomal recessive, MIM# 615491; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"UCHL1","entity_type":"gene"},{"created":"2021-03-14T17:57:37.965133+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3518","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WDR45B as ready","entity_name":"WDR45B","entity_type":"gene"},{"created":"2021-03-14T17:57:37.951853+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3518","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wdr45b has been classified as Green List (High Evidence).","entity_name":"WDR45B","entity_type":"gene"},{"created":"2021-03-14T17:57:34.429527+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3518","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WDR45B were changed from  to Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, MIM# 617977","entity_name":"WDR45B","entity_type":"gene"},{"created":"2021-03-14T17:57:03.061401+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3517","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: WDR45B were set to ","entity_name":"WDR45B","entity_type":"gene"}]}