{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1856","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1854","results":[{"created":"2020-04-17T17:46:14.612424+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.55","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CCT5 as Amber List (moderate evidence)","entity_name":"CCT5","entity_type":"gene"},{"created":"2020-04-17T17:46:14.598947+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.55","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cct5 has been classified as Amber List (Moderate Evidence).","entity_name":"CCT5","entity_type":"gene"},{"created":"2020-04-17T17:46:01.395978+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.54","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: CCT5: Changed rating: AMBER","entity_name":"CCT5","entity_type":"gene"},{"created":"2020-04-17T17:43:08.085906+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.54","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CCT5 as Red List (low evidence)","entity_name":"CCT5","entity_type":"gene"},{"created":"2020-04-17T17:43:08.077065+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.54","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cct5 has been classified as Red List (Low Evidence).","entity_name":"CCT5","entity_type":"gene"},{"created":"2020-04-17T17:42:53.311121+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.53","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: CCT5: Rating: RED; Mode of pathogenicity: None; Publications: 16399879, 25124038, 25345891; Phenotypes: Neuropathy, hereditary sensory, with spastic paraplegia MIM#256840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CCT5","entity_type":"gene"},{"created":"2020-04-17T17:38:54.762786+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2309","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PROKR2 were changed from  to Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200","entity_name":"PROKR2","entity_type":"gene"},{"created":"2020-04-17T17:38:26.013720+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2308","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PROKR2 were set to ","entity_name":"PROKR2","entity_type":"gene"},{"created":"2020-04-17T17:38:03.146527+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2307","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: PROKR2 was changed from  to Other","entity_name":"PROKR2","entity_type":"gene"},{"created":"2020-04-17T17:37:44.489483+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2306","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PROKR2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PROKR2","entity_type":"gene"},{"created":"2020-04-17T17:16:04.304506+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.14","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CCT5 as Red List (low evidence)","entity_name":"CCT5","entity_type":"gene"},{"created":"2020-04-17T17:16:04.294995+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.14","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cct5 has been classified as Red List (Low Evidence).","entity_name":"CCT5","entity_type":"gene"},{"created":"2020-04-17T17:15:51.769564+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: CCT5: Rating: RED; Mode of pathogenicity: None; Publications: 16399879; Phenotypes: Neuropathy, hereditary sensory, with spastic paraplegia MIM#256840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CCT5","entity_type":"gene"},{"created":"2020-04-17T17:00:54.658945+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: BSCL2 as ready","entity_name":"BSCL2","entity_type":"gene"},{"created":"2020-04-17T17:00:54.646747+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: bscl2 has been classified as Green List (High Evidence).","entity_name":"BSCL2","entity_type":"gene"},{"created":"2020-04-17T17:00:41.109031+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: BSCL2 as Green List (high evidence)","entity_name":"BSCL2","entity_type":"gene"},{"created":"2020-04-17T17:00:41.094416+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: bscl2 has been classified as Green List (High Evidence).","entity_name":"BSCL2","entity_type":"gene"},{"created":"2020-04-17T17:00:27.458661+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BSCL2 was added\ngene: BSCL2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BSCL2 were set to Silver spastic paraplegia syndrome MIM#270685; Encephalopathy, progressive, with or without lipodystrophy\tMIM#615924\nReview for gene: BSCL2 was set to GREEN\nAdded comment: Variable age of onset, including paediatric onset. \nSources: Expert list","entity_name":"BSCL2","entity_type":"gene"},{"created":"2020-04-17T16:56:42.546199+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.11","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: B4GALNT1 as ready","entity_name":"B4GALNT1","entity_type":"gene"},{"created":"2020-04-17T16:56:42.534225+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.11","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: b4galnt1 has been classified as Green List (High Evidence).","entity_name":"B4GALNT1","entity_type":"gene"},{"created":"2020-04-17T16:56:36.210675+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.11","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: B4GALNT1 as Green List (high evidence)","entity_name":"B4GALNT1","entity_type":"gene"},{"created":"2020-04-17T16:56:36.201898+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.11","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: b4galnt1 has been classified as Green List (High Evidence).","entity_name":"B4GALNT1","entity_type":"gene"},{"created":"2020-04-17T16:56:27.563590+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.10","user_name":"Bryony Thompson","item_type":"entity","text":"gene: B4GALNT1 was added\ngene: B4GALNT1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: B4GALNT1 were set to Spastic paraplegia 26, autosomal recessive MIM#609195\nReview for gene: B4GALNT1 was set to GREEN\nAdded comment: Onset in first or second decades of life. \nSources: Expert list","entity_name":"B4GALNT1","entity_type":"gene"},{"created":"2020-04-17T16:53:47.424260+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.9","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ARSI: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: Complex spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARSI","entity_type":"gene"},{"created":"2020-04-17T16:50:21.940638+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.9","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ATL1 as ready","entity_name":"ATL1","entity_type":"gene"},{"created":"2020-04-17T16:50:21.927474+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.9","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: atl1 has been classified as Green List (High Evidence).","entity_name":"ATL1","entity_type":"gene"},{"created":"2020-04-17T16:50:16.486164+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.9","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ATL1 as Green List (high evidence)","entity_name":"ATL1","entity_type":"gene"},{"created":"2020-04-17T16:50:16.477201+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.9","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: atl1 has been classified as Green List (High Evidence).","entity_name":"ATL1","entity_type":"gene"},{"created":"2020-04-17T16:50:06.579133+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.8","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ATL1 was added\ngene: ATL1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ATL1 were set to Spastic paraplegia 3A, autosomal dominant MIM#182600\nReview for gene: ATL1 was set to GREEN\nAdded comment: Usually shows early age at onset. \nSources: Expert list","entity_name":"ATL1","entity_type":"gene"},{"created":"2020-04-17T16:30:58.829601+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2305","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: PROKR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:18826963, 29161432; Phenotypes: Hypogonadotropic hypogonadism 3 with or without anosmia 244200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PROKR2","entity_type":"gene"},{"created":"2020-04-17T16:25:11.360517+10:00","panel_name":"Malformations of cortical development Superpanel","panel_id":3136,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"panel","text":"Added Panel Malformations of cortical development Superpanel\nSet child panels to: Polymicrogyria and Schizencephaly; Lissencephaly and Band Heterotopia; Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly; Cobblestone Malformations","entity_name":null,"entity_type":null},{"created":"2020-04-17T16:21:57.053973+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2305","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: MED13L: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID 29511999; Phenotypes: Mental retardation and distinctive facial features with or without cardiac defects 616789, Transposition of the great arteries, dextro-looped 1 608808; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes","entity_name":"MED13L","entity_type":"gene"},{"created":"2020-04-17T16:17:57.597256+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2305","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: F11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:18446632, 15026311; Phenotypes: Factor XI deficiency, autosomal dominant 612416, Factor XI deficiency, autosomal recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"F11","entity_type":"gene"},{"created":"2020-04-17T15:38:43.483560+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2305","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 25062969, 17143285, 17143282; Phenotypes: ?Fibromatosis, gingival, 1, 135300, Noonan syndrome 4, 610733; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"SOS1","entity_type":"gene"},{"created":"2020-04-17T15:20:13.645718+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2305","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: XRCC1 as ready","entity_name":"XRCC1","entity_type":"gene"},{"created":"2020-04-17T15:20:13.636621+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2305","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: xrcc1 has been classified as Green List (High Evidence).","entity_name":"XRCC1","entity_type":"gene"},{"created":"2020-04-17T15:20:02.900248+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2305","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: XRCC1 as Green List (high evidence)","entity_name":"XRCC1","entity_type":"gene"},{"created":"2020-04-17T15:20:02.875138+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2305","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: xrcc1 has been classified as Green List (High Evidence).","entity_name":"XRCC1","entity_type":"gene"},{"created":"2020-04-17T15:19:36.836083+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2304","user_name":"Bryony Thompson","item_type":"entity","text":"gene: XRCC1 was added\ngene: XRCC1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: XRCC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: XRCC1 were set to 28002403; 29472272\nPhenotypes for gene: XRCC1 were set to Spinocerebellar ataxia, autosomal recessive 26 MIM#617633\nReview for gene: XRCC1 was set to GREEN\nAdded comment: Three South Asian cases (one with early adult onset and the other two with onset in childhood) reported with slowly progressive cerebellar ataxia accompanied by sensorimotor neuropathy. All with the recurrent splice variant (c.1293G>C, 2 homozygotes and a compound heterozygote). Mice with conditional deletion of the Xrcc1 gene in the brain showed cerebellar ataxia. \nSources: Expert list","entity_name":"XRCC1","entity_type":"gene"},{"created":"2020-04-17T15:16:59.134588+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.53","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: XRCC1 as Green List (high evidence)","entity_name":"XRCC1","entity_type":"gene"},{"created":"2020-04-17T15:16:59.121777+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.53","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: xrcc1 has been classified as Green List (High Evidence).","entity_name":"XRCC1","entity_type":"gene"},{"created":"2020-04-17T15:15:38.931427+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.52","user_name":"Bryony Thompson","item_type":"entity","text":"gene: XRCC1 was added\ngene: XRCC1 was added to Hereditary Neuropathy - complex. Sources: Expert list\nMode of inheritance for gene: XRCC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: XRCC1 were set to 28002403; 29472272\nPhenotypes for gene: XRCC1 were set to Spinocerebellar ataxia, autosomal recessive 26 MIM#617633\nReview for gene: XRCC1 was set to GREEN\nAdded comment: Three South Asian cases (one with early adult onset and the other two with onset in childhood) reported with slowly progressive cerebellar ataxia accompanied by sensorimotor neuropathy. All with the recurrent splice variant (c.1293G>C, 2 homozygotes and a compound heterozygote). Mice with conditional deletion of the Xrcc1 gene in the brain showed cerebellar ataxia. \nSources: Expert list","entity_name":"XRCC1","entity_type":"gene"},{"created":"2020-04-17T15:13:21.821586+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.183","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: XRCC1 as ready","entity_name":"XRCC1","entity_type":"gene"},{"created":"2020-04-17T15:13:21.812960+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.183","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: xrcc1 has been classified as Green List (High Evidence).","entity_name":"XRCC1","entity_type":"gene"},{"created":"2020-04-17T15:13:12.909546+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.183","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: XRCC1 as Green List (high evidence)","entity_name":"XRCC1","entity_type":"gene"},{"created":"2020-04-17T15:13:12.897435+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.183","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: xrcc1 has been classified as Green List (High Evidence).","entity_name":"XRCC1","entity_type":"gene"},{"created":"2020-04-17T15:13:02.302680+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.182","user_name":"Bryony Thompson","item_type":"entity","text":"gene: XRCC1 was added\ngene: XRCC1 was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: XRCC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: XRCC1 were set to 28002403; 29472272\nPhenotypes for gene: XRCC1 were set to Spinocerebellar ataxia, autosomal recessive 26 MIM#617633\nReview for gene: XRCC1 was set to GREEN\nAdded comment: Three South Asian cases (one with early adult onset and the other two with onset in childhood) reported with slowly progressive cerebellar ataxia accompanied by sensorimotor neuropathy. All with the recurrent splice variant (c.1293G>C, 2 homozygotes and a compound heterozygote). Mice with conditional deletion of the Xrcc1 gene in the brain showed cerebellar ataxia. \nSources: Expert list","entity_name":"XRCC1","entity_type":"gene"},{"created":"2020-04-17T15:01:39.390146+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2303","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: TRAPPC9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal recessive 13, 613192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRAPPC9","entity_type":"gene"},{"created":"2020-04-17T14:54:19.173928+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2303","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: TECTA: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:22718023, 17136632, 31554319, 21520338; Phenotypes: Deafness, autosomal recessive 21 603629, Deafness, autosomal dominant 8/12 601543; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"TECTA","entity_type":"gene"},{"created":"2020-04-17T14:46:30.012000+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2303","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukemia, juvenile myelomonocytic 607785, Neurofibromatosis, familial spinal 162210, Neurofibromatosis, type 1 162200, Neurofibromatosis-Noonan syndrome 601321, Watson syndrome 193520; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes","entity_name":"NF1","entity_type":"gene"},{"created":"2020-04-17T14:44:12.420583+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2303","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TRPC3 as ready","entity_name":"TRPC3","entity_type":"gene"},{"created":"2020-04-17T14:44:12.411899+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2303","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: trpc3 has been classified as Amber List (Moderate Evidence).","entity_name":"TRPC3","entity_type":"gene"},{"created":"2020-04-17T14:43:58.562636+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2303","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TRPC3 as Amber List (moderate evidence)","entity_name":"TRPC3","entity_type":"gene"},{"created":"2020-04-17T14:43:58.550303+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2303","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: trpc3 has been classified as Amber List (Moderate Evidence).","entity_name":"TRPC3","entity_type":"gene"},{"created":"2020-04-17T14:43:33.014406+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2302","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TRPC3 was added\ngene: TRPC3 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: TRPC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRPC3 were set to 25477146; 19351902\nPhenotypes for gene: TRPC3 were set to Spinocerebellar ataxia 41 MIM#616410\nMode of pathogenicity for gene: TRPC3 was set to Other\nReview for gene: TRPC3 was set to AMBER\nAdded comment: A heterozygous gain-of function missense has been identified in a 40-year-old man with adult-onset spinocerebellar ataxia. A mouse model of dominant cerebellar ataxia, termed 'moonwalker', contains a gain-of-function variant in this gene. \nSources: Expert list","entity_name":"TRPC3","entity_type":"gene"},{"created":"2020-04-17T14:42:28.832673+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2301","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:31006324; Phenotypes: Ceroid lipofuscinosis, neuronal, 7 610951, Macular dystrophy with central cone involvement 616170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MFSD8","entity_type":"gene"},{"created":"2020-04-17T14:39:02.215546+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2301","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: DPYD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29152729; Phenotypes: 5-fluorouracil toxicity 274270, Dihydropyrimidine dehydrogenase deficiency 274270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPYD","entity_type":"gene"},{"created":"2020-04-17T14:28:24.762359+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2301","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: DAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29337005, 25503980; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818, Walker-Warburg syndrome and tectocerebellar dysgraphia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DAG1","entity_type":"gene"},{"created":"2020-04-17T14:19:38.767458+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2301","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: CYP1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:21730847, 27243976; Phenotypes: Anterior segment dysgenesis 6, multiple subtypes, 617315, Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CYP1B1","entity_type":"gene"},{"created":"2020-04-17T14:06:06.434982+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2301","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: SEC63: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23209713, 20095989; Phenotypes: Polycystic liver disease 2 617004; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes","entity_name":"SEC63","entity_type":"gene"},{"created":"2020-04-17T13:59:20.510069+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.181","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: RUBCN as Green List (high evidence)","entity_name":"RUBCN","entity_type":"gene"},{"created":"2020-04-17T13:59:20.504650+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.181","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Also supporting in vitro functional assays.","entity_name":"RUBCN","entity_type":"gene"},{"created":"2020-04-17T13:59:20.462582+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.181","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rubcn has been classified as Green List (High Evidence).","entity_name":"RUBCN","entity_type":"gene"},{"created":"2020-04-17T13:18:34.160065+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.180","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: PCDH12: Rating: RED; Mode of pathogenicity: None; Publications: 30459466; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PCDH12","entity_type":"gene"},{"created":"2020-04-17T13:14:50.340613+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C5orf42 as ready","entity_name":"C5orf42","entity_type":"gene"},{"created":"2020-04-17T13:14:50.326485+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c5orf42 has been classified as Green List (High Evidence).","entity_name":"C5orf42","entity_type":"gene"},{"created":"2020-04-17T13:14:47.071730+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: C5orf42 were changed from Joubert syndrome 17 to Joubert syndrome 17, MIM#\t614615","entity_name":"C5orf42","entity_type":"gene"},{"created":"2020-04-17T13:14:34.718957+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: C5orf42: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 17, MIM# 614615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"C5orf42","entity_type":"gene"},{"created":"2020-04-17T13:13:32.603226+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATCAY as ready","entity_name":"ATCAY","entity_type":"gene"},{"created":"2020-04-17T13:13:32.594634+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atcay has been classified as Amber List (Moderate Evidence).","entity_name":"ATCAY","entity_type":"gene"},{"created":"2020-04-17T13:13:30.405943+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATCAY were changed from Cayman Ataxia, 601238; Cerebellar Ataxia, Cayman type; Ataxia, cerebellar, Cayman type to Ataxia, cerebellar, Cayman type, MIM# 601238","entity_name":"ATCAY","entity_type":"gene"},{"created":"2020-04-17T13:13:12.524116+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATCAY were set to ","entity_name":"ATCAY","entity_type":"gene"},{"created":"2020-04-17T13:13:02.931400+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.177","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATCAY as Amber List (moderate evidence)","entity_name":"ATCAY","entity_type":"gene"},{"created":"2020-04-17T13:13:02.917476+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.177","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atcay has been classified as Amber List (Moderate Evidence).","entity_name":"ATCAY","entity_type":"gene"},{"created":"2020-04-17T13:12:51.473917+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATCAY: Rating: AMBER; Mode of pathogenicity: None; Publications: 14556008; Phenotypes: Ataxia, cerebellar, Cayman type, MIM# 601238; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATCAY","entity_type":"gene"},{"created":"2020-04-17T13:06:47.113322+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARL13B as ready","entity_name":"ARL13B","entity_type":"gene"},{"created":"2020-04-17T13:06:47.104487+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arl13b has been classified as Green List (High Evidence).","entity_name":"ARL13B","entity_type":"gene"},{"created":"2020-04-17T13:06:43.839313+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARL13B were changed from Joubert syndrome 8 to Joubert syndrome 8, MIM#\t612291","entity_name":"ARL13B","entity_type":"gene"},{"created":"2020-04-17T13:06:30.341315+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ARL13B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 8, MIM# 612291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARL13B","entity_type":"gene"},{"created":"2020-04-17T12:59:39.004207+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.175","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10931427, 27066577, 26839702, 26103969; Phenotypes: Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978, Chorea, hereditary benign MIM#118700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NKX2-1","entity_type":"gene"},{"created":"2020-04-17T12:55:48.767308+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX7 as ready","entity_name":"PEX7","entity_type":"gene"},{"created":"2020-04-17T12:55:48.753529+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex7 has been classified as Green List (High Evidence).","entity_name":"PEX7","entity_type":"gene"},{"created":"2020-04-17T12:55:46.234785+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PEX7 were changed from Refsum disease; Peroxisome biogenesis disorder 9B to Refsum disease; Peroxisome biogenesis disorder 9B, MIM#614879","entity_name":"PEX7","entity_type":"gene"},{"created":"2020-04-17T12:55:23.340391+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 9B, MIM# 614879; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX7","entity_type":"gene"},{"created":"2020-04-17T12:53:09.760410+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PHYH as ready","entity_name":"PHYH","entity_type":"gene"},{"created":"2020-04-17T12:53:09.751627+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: phyh has been classified as Green List (High Evidence).","entity_name":"PHYH","entity_type":"gene"},{"created":"2020-04-17T12:53:06.512140+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PHYH were changed from Refsum disease to Refsum disease, MIM#\t266500","entity_name":"PHYH","entity_type":"gene"},{"created":"2020-04-17T12:52:49.959856+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PHYH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Refsum disease, MIM# 266500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PHYH","entity_type":"gene"},{"created":"2020-04-17T12:51:33.690276+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PMPCB as ready","entity_name":"PMPCB","entity_type":"gene"},{"created":"2020-04-17T12:51:33.681220+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pmpcb has been classified as Green List (High Evidence).","entity_name":"PMPCB","entity_type":"gene"},{"created":"2020-04-17T12:51:30.511163+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PMPCB were set to ","entity_name":"PMPCB","entity_type":"gene"},{"created":"2020-04-17T12:51:16.303347+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PMPCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 29576218; Phenotypes: Multiple mitochondrial dysfunctions syndrome 6, MIM# 617954; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PMPCB","entity_type":"gene"},{"created":"2020-04-17T12:49:01.950156+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POLR3B as ready","entity_name":"POLR3B","entity_type":"gene"},{"created":"2020-04-17T12:49:01.940705+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polr3b has been classified as Green List (High Evidence).","entity_name":"POLR3B","entity_type":"gene"},{"created":"2020-04-17T12:48:59.635070+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POLR3B were changed from Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM#614381","entity_name":"POLR3B","entity_type":"gene"},{"created":"2020-04-17T12:48:46.573636+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.171","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: 12563048, 10401001, 28095071; Phenotypes: Mevalonic aciduria MIM#610377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MVK","entity_type":"gene"},{"created":"2020-04-17T12:48:36.004385+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POLR3B were set to ","entity_name":"POLR3B","entity_type":"gene"},{"created":"2020-04-17T12:48:23.151253+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POLR3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 22036171, 22036172; Phenotypes: Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 614381; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"POLR3B","entity_type":"gene"},{"created":"2020-04-17T12:46:30.986927+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTRH2 as ready","entity_name":"PTRH2","entity_type":"gene"},{"created":"2020-04-17T12:46:30.969785+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptrh2 has been classified as Green List (High Evidence).","entity_name":"PTRH2","entity_type":"gene"}]}