{"count":221413,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=342","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=340","results":[{"created":"2024-11-21T13:27:19.630947+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.561","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALG6: Rating: GREEN; Mode of pathogenicity: None; Publications: 27498540; Phenotypes: Congenital disorder of glycosylation, type Ic (MIM#603147); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG6","entity_type":"gene"},{"created":"2024-11-21T13:26:08.015168+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.561","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: LARP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 22865833, 21937992, 30006060, 33569879, 36126956, 37529055; Phenotypes: Alazami syndrome MIM#615071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LARP7","entity_type":"gene"},{"created":"2024-11-21T13:23:36.071681+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.561","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AGPS as ready","entity_name":"AGPS","entity_type":"gene"},{"created":"2024-11-21T13:23:36.057498+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.561","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: agps has been classified as Green List (High Evidence).","entity_name":"AGPS","entity_type":"gene"},{"created":"2024-11-21T13:23:32.167746+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.561","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AGPS were changed from Chondrodysplasia punctata, rhizomelic, type 3, 600121 (3) to Rhizomelic chondrodysplasia punctata, type 3, MIM# 600121","entity_name":"AGPS","entity_type":"gene"},{"created":"2024-11-21T13:23:19.814751+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.560","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AGPS were set to ","entity_name":"AGPS","entity_type":"gene"},{"created":"2024-11-21T13:23:03.853561+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.559","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AGPS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9553082, 8611652, 21990100; Phenotypes: Rhizomelic chondrodysplasia punctata, type 3, MIM# 600121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AGPS","entity_type":"gene"},{"created":"2024-11-21T13:21:37.861092+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.559","user_name":"Cassandra Muller","item_type":"entity","text":"reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: None; Publications: 31135052, 31837835, 22146942, 19068277; Phenotypes: Spastic paraplegia 35, autosomal recessive, 612319 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FA2H","entity_type":"gene"},{"created":"2024-11-21T13:18:06.597691+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.559","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACAT1 as ready","entity_name":"ACAT1","entity_type":"gene"},{"created":"2024-11-21T13:18:06.585971+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.559","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acat1 has been classified as Green List (High Evidence).","entity_name":"ACAT1","entity_type":"gene"},{"created":"2024-11-21T13:18:02.440466+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.559","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACAT1 were changed from Alpha-methylacetoacetic aciduria, 203750 (3) to Alpha-methylacetoacetic aciduria, MIM#203750","entity_name":"ACAT1","entity_type":"gene"},{"created":"2024-11-21T13:17:49.446764+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.558","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACAT1 were set to ","entity_name":"ACAT1","entity_type":"gene"},{"created":"2024-11-21T13:17:35.200659+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.557","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17236799, 1715688; Phenotypes: Alpha-methylacetoacetic aciduria, MIM#203750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACAT1","entity_type":"gene"},{"created":"2024-11-21T12:34:24.885739+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.557","user_name":"Lauren Thomas","item_type":"entity","text":"reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746551, 24103911; Phenotypes: Spastic paraplegia 26, MIM# 609195; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"B4GALNT1","entity_type":"gene"},{"created":"2024-11-21T11:41:18.589667+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.557","user_name":"Lauren Thomas","item_type":"entity","text":"reviewed gene: ATF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26063662, 26029869; Phenotypes: Achromatopsia 7, MIM# 616517; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATF6","entity_type":"gene"},{"created":"2024-11-21T09:40:52.874579+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2147","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: ATP5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34483339, 34954817, 23599390, 23596069; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A (MIM#620358), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2024-11-20T17:24:58.628913+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.557","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: FOXP3 as ready","entity_name":"FOXP3","entity_type":"gene"},{"created":"2024-11-20T17:24:58.615654+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.557","user_name":"Lilian Downie","item_type":"entity","text":"Gene: foxp3 has been classified as Green List (High Evidence).","entity_name":"FOXP3","entity_type":"gene"},{"created":"2024-11-20T17:24:43.778188+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.557","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: FOXP3 were set to ","entity_name":"FOXP3","entity_type":"gene"},{"created":"2024-11-20T17:19:10.698730+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.556","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: ACE as ready","entity_name":"ACE","entity_type":"gene"},{"created":"2024-11-20T17:19:10.684938+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.556","user_name":"Lilian Downie","item_type":"entity","text":"Gene: ace has been classified as Green List (High Evidence).","entity_name":"ACE","entity_type":"gene"},{"created":"2024-11-20T17:17:27.994250+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.556","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: ACE were set to ","entity_name":"ACE","entity_type":"gene"},{"created":"2024-11-20T17:16:07.956921+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.555","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: EYS were set to 31074760; 20537394; 31074760","entity_name":"EYS","entity_type":"gene"},{"created":"2024-11-20T17:15:47.445923+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.554","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: EYS were set to 31074760","entity_name":"EYS","entity_type":"gene"},{"created":"2024-11-20T12:42:56.217664+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.553","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: GUCY1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 36941667; Phenotypes: Moyamoya 6 with achalasia, MIM#615750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"GUCY1A3","entity_type":"gene"},{"created":"2024-11-20T12:24:09.526041+11:00","panel_name":"Ichthyosis","panel_id":124,"panel_version":"1.11","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: GTF2H5: Rating: GREEN; Mode of pathogenicity: None; Publications: 24986372, 30359777, 37356817; Phenotypes: Trichothiodystrophy 3, photosensitive, MIM# 616395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"GTF2H5","entity_type":"gene"},{"created":"2024-11-20T12:19:45.061197+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.553","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: GTF2H5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30359777, 24986372, 37356817; Phenotypes: Trichothiodystrophy 3, photosensitive, MIM# 616395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"GTF2H5","entity_type":"gene"},{"created":"2024-11-20T11:22:56.168445+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.553","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: GRM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22901947, 26308914, 31319223; Phenotypes: Spinocerebellar ataxia, autosomal recessive 13, 614831; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"GRM1","entity_type":"gene"},{"created":"2024-11-20T10:43:29.578602+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.553","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: GPAA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100095; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 15, MIM#617810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"GPAA1","entity_type":"gene"},{"created":"2024-11-20T09:46:05.158252+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.553","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: GNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31536183; Phenotypes: Mucopolysaccharidosis type IIID, MIM# 252940, Sanfilippo syndrome type D, MONDO:0009658; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"GNS","entity_type":"gene"},{"created":"2024-11-19T21:29:00.703237+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.157","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GTF3A as ready","entity_name":"GTF3A","entity_type":"gene"},{"created":"2024-11-19T21:29:00.692961+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.157","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gtf3a has been classified as Red List (Low Evidence).","entity_name":"GTF3A","entity_type":"gene"},{"created":"2024-11-19T21:28:53.855455+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.157","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GTF3A was added\ngene: GTF3A was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: GTF3A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GTF3A were set to 36399538\nPhenotypes for gene: GTF3A were set to herpes simplex encephalitis MONDO:0012521\nReview for gene: GTF3A was set to RED\nAdded comment: A single case is reported with common variable immunodeficiency and HSE, and some supporting functional assays. \nSources: Expert list","entity_name":"GTF3A","entity_type":"gene"},{"created":"2024-11-19T21:12:42.787888+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.156","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: DBR1 as ready","entity_name":"DBR1","entity_type":"gene"},{"created":"2024-11-19T21:12:42.768280+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.156","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dbr1 has been classified as Green List (High Evidence).","entity_name":"DBR1","entity_type":"gene"},{"created":"2024-11-19T21:12:23.348312+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.156","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: DBR1 as Green List (high evidence)","entity_name":"DBR1","entity_type":"gene"},{"created":"2024-11-19T21:12:23.338569+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.156","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dbr1 has been classified as Green List (High Evidence).","entity_name":"DBR1","entity_type":"gene"},{"created":"2024-11-19T21:11:41.339227+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.155","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DBR1 was added\ngene: DBR1 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DBR1 were set to 39023559; 29474921\nPhenotypes for gene: DBR1 were set to encephalitis, acute, infection (viral)-induced, susceptibility to, 11 MONDO:0030334\nReview for gene: DBR1 was set to GREEN\ngene: DBR1 was marked as current diagnostic\nAdded comment: IUIS IEI committee classification as a defect in innate and intrinsic immunity in the subcategory of herpes simplex encephalitis. At least 4 families reported. \nSources: Expert list","entity_name":"DBR1","entity_type":"gene"},{"created":"2024-11-19T17:05:44.662479+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: SMAD9: Rating: AMBER; Mode of pathogenicity: None; Publications: 29844917; Phenotypes: arteriovenous malformations of the brain MONDO:0007154; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"SMAD9","entity_type":"gene"},{"created":"2024-11-19T16:50:01.290678+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: PKD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301424; Phenotypes: polycystic kidney disease 2 MONDO:0013131; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"PKD2","entity_type":"gene"},{"created":"2024-11-19T16:42:26.551346+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: PKD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301424, 35108395, 26260542; Phenotypes: polycystic kidney disease 1 MONDO:0008263; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"PKD1","entity_type":"gene"},{"created":"2024-11-19T16:29:22.200969+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: PCNT: Rating: AMBER; Mode of pathogenicity: None; Publications: 34978779, 19839044, 37234811, 34923567; Phenotypes: microcephalic osteodysplastic primordial dwarfism type II MONDO:0008872, Moyamoya disease MONDO:0016820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PCNT","entity_type":"gene"},{"created":"2024-11-19T16:13:06.039473+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.553","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: GLDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 36817643, 34513771; Phenotypes: Glycine encephalopathy1 (MIM#605899); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GLDC","entity_type":"gene"},{"created":"2024-11-19T15:44:12.026716+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: NF1: Rating: RED; Mode of pathogenicity: None; Publications: 20301288; Phenotypes: neurofibromatosis type 1 MONDO:0018975; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NF1","entity_type":"gene"},{"created":"2024-11-19T15:43:48.076863+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.553","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: GAMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 33996490, 38469086; Phenotypes: Cerebral creatine deficiency syndrome 2 (MIM#612736); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GAMT","entity_type":"gene"},{"created":"2024-11-19T15:35:58.562660+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.553","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: ESCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32977150; Phenotypes: Juberg-Hayward syndrome (MIM#216100), Roberts-SC phocomelia syndrome (MIM#268300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ESCO2","entity_type":"gene"},{"created":"2024-11-19T15:33:32.190393+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: MYH11: Rating: RED; Mode of pathogenicity: None; Publications: 32081817, 29263223, 27367753; Phenotypes: cerebrovascular disorder MONDO:0011057; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"MYH11","entity_type":"gene"},{"created":"2024-11-19T15:15:45.740525+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.553","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: EIF2B5: Rating: GREEN; Mode of pathogenicity: None; Publications: 20975056, 37674283, 25761052; Phenotypes: Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure (MIM#620315); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EIF2B5","entity_type":"gene"},{"created":"2024-11-19T15:05:26.797100+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.553","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: DPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 39166428, 33704902; Phenotypes: Developmental delay with short stature, dysmorphic facial features, and sparse hair (MIM#616901); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DPH1","entity_type":"gene"},{"created":"2024-11-19T12:36:55.605882+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: MRVI1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown","entity_name":"MRVI1","entity_type":"gene"},{"created":"2024-11-19T12:13:54.593746+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: HBB: Rating: RED; Mode of pathogenicity: None; Publications: 27301940; Phenotypes: sickle cell anemia MONDO:0011382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HBB","entity_type":"gene"},{"created":"2024-11-19T11:25:07.404305+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: FLVCR2: Rating: RED; Mode of pathogenicity: None; Publications: 4555262; Phenotypes: Fowler syndrome MONDO:0009168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FLVCR2","entity_type":"gene"},{"created":"2024-11-19T11:00:04.011420+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: CEP152: Rating: RED; Mode of pathogenicity: None; Publications: 19338412; Phenotypes: Seckel syndrome MONDO:0019342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP152","entity_type":"gene"},{"created":"2024-11-19T10:50:05.461338+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: ATR: Rating: RED; Mode of pathogenicity: None; Publications: 19338412; Phenotypes: Seckel syndrome 1 MONDO:0008869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATR","entity_type":"gene"},{"created":"2024-11-19T10:09:11.222677+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: ADA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24552284; Phenotypes: vasculitis due to ADA2 deficiency MONDO:0014306; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADA2","entity_type":"gene"},{"created":"2024-11-19T09:50:32.778995+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28742248, 25205403, 19455184; Phenotypes: polymicrogyria with or without vascular-type Ehlers-Danlos syndrome MONDO:0032688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COL3A1","entity_type":"gene"},{"created":"2024-11-18T20:42:44.301312+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.553","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: G6PC as ready","entity_name":"G6PC","entity_type":"gene"},{"created":"2024-11-18T20:42:44.288621+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.553","user_name":"Lilian Downie","item_type":"entity","text":"Gene: g6pc has been classified as Green List (High Evidence).","entity_name":"G6PC","entity_type":"gene"},{"created":"2024-11-18T20:42:36.609542+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.553","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: G6PC were set to ","entity_name":"G6PC","entity_type":"gene"},{"created":"2024-11-18T20:40:38.041298+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.552","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: GNB5 as ready","entity_name":"GNB5","entity_type":"gene"},{"created":"2024-11-18T20:40:38.032100+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.552","user_name":"Lilian Downie","item_type":"entity","text":"Gene: gnb5 has been classified as Green List (High Evidence).","entity_name":"GNB5","entity_type":"gene"},{"created":"2024-11-18T20:40:31.951054+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.552","user_name":"Lilian Downie","item_type":"entity","text":"Phenotypes for gene: GNB5 were changed from Intellectual developmental disorder with cardiac arrhythmia, 617173 (3), Autosomal recessive to Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173); Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182)","entity_name":"GNB5","entity_type":"gene"},{"created":"2024-11-18T20:39:37.315502+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.551","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: GNB5 were set to ","entity_name":"GNB5","entity_type":"gene"},{"created":"2024-11-18T20:38:37.912241+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.550","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: GNPAT as ready","entity_name":"GNPAT","entity_type":"gene"},{"created":"2024-11-18T20:38:37.899366+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.550","user_name":"Lilian Downie","item_type":"entity","text":"Gene: gnpat has been classified as Green List (High Evidence).","entity_name":"GNPAT","entity_type":"gene"},{"created":"2024-11-18T20:38:33.856061+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.550","user_name":"Lilian Downie","item_type":"entity","text":"Phenotypes for gene: GNPAT were changed from Chondrodysplasia punctata, rhizomelic, type 2, 222765 (3) to Rhizomelic chondrodysplasia punctata, type 2 (MIM# 22276)5)","entity_name":"GNPAT","entity_type":"gene"},{"created":"2024-11-18T20:38:10.975927+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.549","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: GNPAT were set to ","entity_name":"GNPAT","entity_type":"gene"},{"created":"2024-11-18T20:37:07.652709+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.548","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: CLN3 were set to 7553855; 31926949","entity_name":"CLN3","entity_type":"gene"},{"created":"2024-11-18T20:36:48.500005+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.547","user_name":"Lilian Downie","item_type":"entity","text":"Tag SV/CNV tag was added to gene: CLN3.","entity_name":"CLN3","entity_type":"gene"},{"created":"2024-11-18T16:02:03.783349+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 33864021, 27400125, 29444212; Phenotypes: EPHB4-associated vascular malformation spectrum MONDO:0700080; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EPHB4","entity_type":"gene"},{"created":"2024-11-18T15:31:28.758813+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: ANO1: Rating: AMBER; Mode of pathogenicity: None; Publications: 37253099; Phenotypes: Moyamoya disease 7 MONDO:0958202; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ANO1","entity_type":"gene"},{"created":"2024-11-18T15:01:19.175192+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: YY1AP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9489789, 11241488, 31633303; Phenotypes: grange syndrome MONDO:0011243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"YY1AP1","entity_type":"gene"},{"created":"2024-11-18T14:24:11.191157+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301525; Phenotypes: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome MONDO:0008278; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SMAD4","entity_type":"gene"},{"created":"2024-11-18T14:14:10.315520+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: None; Publications: 16550171, 17935213; Phenotypes: arterial tortuosity syndrome MONDO:0008818; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC2A10","entity_type":"gene"},{"created":"2024-11-18T13:46:54.054749+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: SAMHD1: Rating: ; Mode of pathogenicity: None; Publications: 20653736, 21402907; Phenotypes: Moyamoya disease MONDO:0016820, Aicardi-Goutieres syndrome 5 MONDO:0013059; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SAMHD1","entity_type":"gene"},{"created":"2024-11-18T13:07:23.959716+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21348050, 24038909; Phenotypes: Capillary Malformation-Arteriovenous Malformation Syndrome MONDO:0012016; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RASA1","entity_type":"gene"},{"created":"2024-11-18T12:23:56.414852+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"changed review comment from: CCM is a feature in affected individuals; to: CCM is a feature in affected individuals.\r\n","entity_name":"PDCD10","entity_type":"gene"},{"created":"2024-11-18T12:23:26.302463+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: PDCD10: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301470; Phenotypes: Familial cerebral cavernous malformations MONDO:0031037; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PDCD10","entity_type":"gene"},{"created":"2024-11-18T12:18:48.836119+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.547","user_name":"Marta Cifuentes Ochoa","item_type":"entity","text":"reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7553855, 9004140, 9311735, 31926949; Phenotypes: Ceroid lipofuscinosis, neuronal, 3, MIM# 204200, MONDO:0008767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CLN3","entity_type":"gene"},{"created":"2024-11-18T12:09:51.149900+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.547","user_name":"Marta Cifuentes Ochoa","item_type":"entity","text":"Deleted their review","entity_name":"CLN3","entity_type":"gene"},{"created":"2024-11-18T12:00:03.826410+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: GUCY1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24581742, 26777256; Phenotypes: Moyamoya disease with early-onset achalasia MONDO:0014331; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GUCY1A3","entity_type":"gene"},{"created":"2024-11-18T11:42:20.887909+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: None; Publications: 7894484, 20414677, 30763665, 17384219, 20364125; Phenotypes: telangiectasia, hereditary hemorrhagic, type 1 MONDO:0008535; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ENG","entity_type":"gene"},{"created":"2024-11-18T11:23:31.314089+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: CCM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301470; Phenotypes: famililal cerebral cavernous malformations MONDO:0031037; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CCM2","entity_type":"gene"},{"created":"2024-11-18T11:18:04.744731+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 86402252, 17384219, 26176610, 9245985 20364125, 20414677; Phenotypes: telangiectasia, hereditary hemorrhagic, type 2 MONDO:0010880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACVRL1","entity_type":"gene"},{"created":"2024-11-18T11:11:15.538866+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: ACTA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 19409525, 24621862, 20970362; Phenotypes: Moyamoya disease 5 MONDO:0013542; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTA2","entity_type":"gene"},{"created":"2024-11-18T09:54:11.883188+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.547","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: GNPAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 9536089, 11152660, 21990100; Phenotypes: Rhizomelic chondrodysplasia punctata, type 2 (MIM# 222765); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"GNPAT","entity_type":"gene"},{"created":"2024-11-18T09:30:31.620319+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.547","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: GNB5: Rating: GREEN; Mode of pathogenicity: None; Publications: 34436834; Phenotypes: Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173), Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"GNB5","entity_type":"gene"},{"created":"2024-11-18T08:20:29.984463+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.547","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: G6PC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease Ia (MIM# 232200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"G6PC","entity_type":"gene"},{"created":"2024-11-17T15:06:42.520668+11:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.150","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2024-11-17T13:34:11.951318+11:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.32","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: DBF4 as ready","entity_name":"DBF4","entity_type":"gene"},{"created":"2024-11-17T13:34:11.935985+11:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.32","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dbf4 has been classified as Red List (Low Evidence).","entity_name":"DBF4","entity_type":"gene"},{"created":"2024-11-17T13:33:33.660902+11:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.32","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DBF4 was added\ngene: DBF4 was added to Phagocyte Defects. Sources: Expert list\nMode of inheritance for gene: DBF4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DBF4 were set to 36841265\nPhenotypes for gene: DBF4 were set to severe congenital neutropenia MONDO:0018542\nReview for gene: DBF4 was set to RED\nAdded comment: A single case with a homozygous variant & some supporting in vitro functional assay. \nSources: Expert list","entity_name":"DBF4","entity_type":"gene"},{"created":"2024-11-16T15:12:29.522353+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.216","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TNFSF9 as ready","entity_name":"TNFSF9","entity_type":"gene"},{"created":"2024-11-16T15:12:29.500769+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.216","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tnfsf9 has been classified as Red List (Low Evidence).","entity_name":"TNFSF9","entity_type":"gene"},{"created":"2024-11-16T15:06:54.766226+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.215","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TNFSF9 was added\ngene: TNFSF9 was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: TNFSF9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TNFSF9 were set to 35657354\nPhenotypes for gene: TNFSF9 were set to Hereditary susceptibility to infections, MONDO:0015979, TNFSF9-related","entity_name":"TNFSF9","entity_type":"gene"},{"created":"2024-11-16T14:56:20.866097+11:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.131","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: NFATC2 were set to PMID: 38427060","entity_name":"NFATC2","entity_type":"gene"},{"created":"2024-11-16T14:55:36.159428+11:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.130","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: NFATC2 as Amber List (moderate evidence)","entity_name":"NFATC2","entity_type":"gene"},{"created":"2024-11-16T14:55:36.141897+11:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.130","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: nfatc2 has been classified as Amber List (Moderate Evidence).","entity_name":"NFATC2","entity_type":"gene"},{"created":"2024-11-16T14:54:59.439452+11:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.129","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: NFATC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35789258, 38427060; Phenotypes: Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NFATC2","entity_type":"gene"},{"created":"2024-11-16T14:54:08.734620+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2147","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: NFATC2 as Amber List (moderate evidence)","entity_name":"NFATC2","entity_type":"gene"}]}