{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=538","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=536","results":[{"created":"2023-10-08T17:06:46.834319+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1937","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COG7 as ready","entity_name":"COG7","entity_type":"gene"},{"created":"2023-10-08T17:06:46.820337+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1937","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cog7 has been classified as Green List (High Evidence).","entity_name":"COG7","entity_type":"gene"},{"created":"2023-10-08T17:06:43.875322+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1937","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COG7 were changed from  to Congenital disorder of glycosylation, type IIe , MIM#608779","entity_name":"COG7","entity_type":"gene"},{"created":"2023-10-08T17:06:06.795229+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1936","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COG7 were set to ","entity_name":"COG7","entity_type":"gene"},{"created":"2023-10-08T17:05:28.609004+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1935","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COG7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"COG7","entity_type":"gene"},{"created":"2023-10-08T17:04:33.328557+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1934","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CNTNAP2 as ready","entity_name":"CNTNAP2","entity_type":"gene"},{"created":"2023-10-08T17:04:33.316454+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1934","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cntnap2 has been classified as Green List (High Evidence).","entity_name":"CNTNAP2","entity_type":"gene"},{"created":"2023-10-08T17:04:29.798718+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1934","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CNTNAP2 were changed from  to Cortical dysplasia-focal epilepsy syndrome, MIM# 610042","entity_name":"CNTNAP2","entity_type":"gene"},{"created":"2023-10-08T17:03:44.946525+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1933","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CNTNAP2 were set to ","entity_name":"CNTNAP2","entity_type":"gene"},{"created":"2023-10-08T17:03:06.952395+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1932","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CNTNAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CNTNAP2","entity_type":"gene"},{"created":"2023-10-07T13:40:56.900443+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.182","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STAT6 were changed from Allergic disease, MONDO:0005271, STAT6-related; early-onset multiorgan allergies to Hyper-IgE syndrome 6, autosomal dominant, with atopy and allergies, MIM# 620532","entity_name":"STAT6","entity_type":"gene"},{"created":"2023-10-07T13:40:23.607423+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STAT6 were set to PMID: 36216080","entity_name":"STAT6","entity_type":"gene"},{"created":"2023-10-07T13:39:46.302263+11:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: STAT6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyper-IgE syndrome 6, autosomal dominant, with atopy and allergies, MIM# 620532; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"STAT6","entity_type":"gene"},{"created":"2023-10-07T13:39:21.830904+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1269","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STAT6 were changed from Allergic disease, MONDO:0005271, STAT6-related; early-onset multiorgan allergies to Hyper-IgE syndrome 6, autosomal dominant, with atopy and allergies, MIM# 620532","entity_name":"STAT6","entity_type":"gene"},{"created":"2023-10-07T13:38:56.397316+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1268","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: STAT6: Changed phenotypes: Hyper-IgE syndrome 6, autosomal dominant, with atopy and allergies, MIM# 620532","entity_name":"STAT6","entity_type":"gene"},{"created":"2023-10-06T21:01:27.559096+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5570","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP13A2 as ready","entity_name":"ATP13A2","entity_type":"gene"},{"created":"2023-10-06T21:01:27.541736+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5570","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp13a2 has been classified as Amber List (Moderate Evidence).","entity_name":"ATP13A2","entity_type":"gene"},{"created":"2023-10-06T21:01:22.884242+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5570","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP13A2 were changed from  to Kufor-Rakeb syndrome, MIM# 606693","entity_name":"ATP13A2","entity_type":"gene"},{"created":"2023-10-06T21:00:49.508618+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5569","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATP13A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP13A2","entity_type":"gene"},{"created":"2023-10-06T21:00:11.587633+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5568","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATP13A2 as Amber List (moderate evidence)","entity_name":"ATP13A2","entity_type":"gene"},{"created":"2023-10-06T21:00:11.576013+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5568","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp13a2 has been classified as Amber List (Moderate Evidence).","entity_name":"ATP13A2","entity_type":"gene"},{"created":"2023-10-06T20:59:36.674613+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5567","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATP13A2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Kufor-Rakeb syndrome, MIM# 606693; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP13A2","entity_type":"gene"},{"created":"2023-10-06T20:55:54.170565+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5567","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BRAF as ready","entity_name":"BRAF","entity_type":"gene"},{"created":"2023-10-06T20:55:54.160697+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5567","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: braf has been classified as Green List (High Evidence).","entity_name":"BRAF","entity_type":"gene"},{"created":"2023-10-06T20:55:25.876735+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5567","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BRAF were changed from  to Cardiofaciocutaneous syndrome (MIM# 115150); Noonan syndrome (MIM# 613706); LEOPARD syndrome (MIM# 613707)","entity_name":"BRAF","entity_type":"gene"},{"created":"2023-10-06T20:54:52.709897+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5566","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BRAF were set to ","entity_name":"BRAF","entity_type":"gene"},{"created":"2023-10-06T20:54:19.374230+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5565","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: BRAF was changed from  to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","entity_name":"BRAF","entity_type":"gene"},{"created":"2023-10-06T20:53:47.554238+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5564","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BRAF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"BRAF","entity_type":"gene"},{"created":"2023-10-06T20:53:00.724415+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5563","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMARCA4 as ready","entity_name":"SMARCA4","entity_type":"gene"},{"created":"2023-10-06T20:53:00.709144+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5563","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smarca4 has been classified as Green List (High Evidence).","entity_name":"SMARCA4","entity_type":"gene"},{"created":"2023-10-06T20:52:55.837398+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5563","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMARCA4 were changed from  to Coffin-Siris syndrome 4 (MIM# 614609)","entity_name":"SMARCA4","entity_type":"gene"},{"created":"2023-10-06T20:52:23.558822+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5562","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SMARCA4 were set to ","entity_name":"SMARCA4","entity_type":"gene"},{"created":"2023-10-06T20:51:46.474791+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5561","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: SMARCA4 was changed from  to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","entity_name":"SMARCA4","entity_type":"gene"},{"created":"2023-10-06T20:51:15.146567+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5560","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SMARCA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SMARCA4","entity_type":"gene"},{"created":"2023-10-06T20:50:26.567801+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5559","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMC3 as ready","entity_name":"SMC3","entity_type":"gene"},{"created":"2023-10-06T20:50:26.558809+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5559","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smc3 has been classified as Green List (High Evidence).","entity_name":"SMC3","entity_type":"gene"},{"created":"2023-10-06T20:50:14.943647+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5559","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMC3 were changed from  to Cornelia de Lange syndrome 3 MONDO:0012555","entity_name":"SMC3","entity_type":"gene"},{"created":"2023-10-06T20:48:53.674331+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5558","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SMC3 were set to ","entity_name":"SMC3","entity_type":"gene"},{"created":"2023-10-06T20:48:15.808443+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5557","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SMC3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SMC3","entity_type":"gene"},{"created":"2023-10-06T20:47:28.610603+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5556","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMC1A as ready","entity_name":"SMC1A","entity_type":"gene"},{"created":"2023-10-06T20:47:28.601746+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5556","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smc1a has been classified as Green List (High Evidence).","entity_name":"SMC1A","entity_type":"gene"},{"created":"2023-10-06T20:47:22.759364+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5556","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMC1A were changed from  to Cornelia de Lange syndrome 2 MONDO:0010370","entity_name":"SMC1A","entity_type":"gene"},{"created":"2023-10-06T20:46:44.675714+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5555","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SMC1A were set to ","entity_name":"SMC1A","entity_type":"gene"},{"created":"2023-10-06T20:46:11.976077+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5554","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SMC1A was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"SMC1A","entity_type":"gene"},{"created":"2023-10-06T20:45:27.044617+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5553","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMARCB1 as ready","entity_name":"SMARCB1","entity_type":"gene"},{"created":"2023-10-06T20:45:27.032252+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5553","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smarcb1 has been classified as Green List (High Evidence).","entity_name":"SMARCB1","entity_type":"gene"},{"created":"2023-10-06T20:45:22.316976+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5553","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMARCB1 were changed from  to Coffin-Siris syndrome 3 (MIM# 614608); MONDO:0015452","entity_name":"SMARCB1","entity_type":"gene"},{"created":"2023-10-06T20:44:47.858148+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5552","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SMARCB1 were set to ","entity_name":"SMARCB1","entity_type":"gene"},{"created":"2023-10-06T20:44:03.999192+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5551","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: SMARCB1 was changed from  to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","entity_name":"SMARCB1","entity_type":"gene"},{"created":"2023-10-06T20:43:33.298801+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5550","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SMARCB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SMARCB1","entity_type":"gene"},{"created":"2023-10-06T12:12:08.005018+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1268","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SRP68 as ready","entity_name":"SRP68","entity_type":"gene"},{"created":"2023-10-06T12:12:07.992418+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1268","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srp68 has been classified as Amber List (Moderate Evidence).","entity_name":"SRP68","entity_type":"gene"},{"created":"2023-10-06T12:11:54.745967+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1268","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SRP68 as Amber List (moderate evidence)","entity_name":"SRP68","entity_type":"gene"},{"created":"2023-10-06T12:11:54.729106+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1268","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srp68 has been classified as Amber List (Moderate Evidence).","entity_name":"SRP68","entity_type":"gene"},{"created":"2023-10-06T12:11:35.281372+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1267","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SRP68 was added\ngene: SRP68 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: SRP68 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SRP68 were set to 32273475\nPhenotypes for gene: SRP68 were set to Neutropenia, severe congenital, 10, autosomal recessive, MIM# 620534\nReview for gene: SRP68 was set to AMBER\nAdded comment: Single individual reported with bi-allelic LoF variants and presenting with infantile-onset severe neutropenia and recurrent infections. Multiple lines of functional evidence provided. \nSources: Expert list","entity_name":"SRP68","entity_type":"gene"},{"created":"2023-10-06T12:11:13.748897+11:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SRP68 as ready","entity_name":"SRP68","entity_type":"gene"},{"created":"2023-10-06T12:11:13.737076+11:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srp68 has been classified as Amber List (Moderate Evidence).","entity_name":"SRP68","entity_type":"gene"},{"created":"2023-10-06T12:07:59.141819+11:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SRP68 as Amber List (moderate evidence)","entity_name":"SRP68","entity_type":"gene"},{"created":"2023-10-06T12:07:59.123421+11:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srp68 has been classified as Amber List (Moderate Evidence).","entity_name":"SRP68","entity_type":"gene"},{"created":"2023-10-06T12:07:06.694308+11:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SRP68 was added\ngene: SRP68 was added to Phagocyte Defects. Sources: Expert list\nMode of inheritance for gene: SRP68 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SRP68 were set to 32273475\nPhenotypes for gene: SRP68 were set to Neutropenia, severe congenital, 10, autosomal recessive, MIM# \t620534\nReview for gene: SRP68 was set to AMBER\nAdded comment: Single individual reported with bi-allelic LoF variants and presenting with infantile-onset severe neutropenia and recurrent infections. Multiple lines of functional evidence provided. \nSources: Expert list","entity_name":"SRP68","entity_type":"gene"},{"created":"2023-10-05T15:21:02.826245+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5549","user_name":"Kaitlyn Dianna Weldon","item_type":"entity","text":"reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23556151; Phenotypes: Coffin-Siris syndrome MONDO:0015452; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SMARCB1","entity_type":"gene"},{"created":"2023-10-05T15:17:47.628392+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5549","user_name":"Kaitlyn Dianna Weldon","item_type":"entity","text":"reviewed gene: SMC1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301283; Phenotypes: Cornelia de Lange syndrome 2 MONDO:0010370; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"SMC1A","entity_type":"gene"},{"created":"2023-10-05T15:14:38.987173+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5549","user_name":"Kaitlyn Dianna Weldon","item_type":"entity","text":"reviewed gene: SMC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301283; Phenotypes: Cornelia de Lange syndrome 3 MONDO:0012555; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SMC3","entity_type":"gene"},{"created":"2023-10-05T14:58:48.176753+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5549","user_name":"Claire Fryer-Smith","item_type":"entity","text":"reviewed gene: SMARCB1: 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: 22426308, 29907796, 3175698; Phenotypes: Coffin-Siris syndrome 3 (MIM# 614608); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SMARCB1","entity_type":"gene"},{"created":"2023-10-05T14:47:05.660045+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5549","user_name":"Claire Fryer-Smith","item_type":"entity","text":"changed review comment from: Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges.\r\n\r\nMissense and an in-frame deletion in SCARCA4 have been observed across 15 CSS patients in the literature (22426308, 23637025, 23929686), suggesting a dominant negative GoF effect. \r\n\r\nLoF variants in SMARCA4 result in Rhabdoid tumor predisposition syndrome, which does not exhibit ID.; to: Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges.\r\n\r\nMissense and an in-frame deletion in SMARCA4 have been observed across 15 CSS patients in the literature (22426308, 23637025, 23929686), suggesting a dominant negative GoF effect. \r\n\r\nLoF variants in SMARCA4 result in Rhabdoid tumor predisposition syndrome, which does not exhibit ID.","entity_name":"SMARCA4","entity_type":"gene"},{"created":"2023-10-05T14:43:23.918472+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5549","user_name":"Claire Fryer-Smith","item_type":"entity","text":"reviewed gene: SMARCA4: 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: 22426308, 23929686, 23637025; Phenotypes: Coffin-Siris syndrome 4 (MIM# 614609); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SMARCA4","entity_type":"gene"},{"created":"2023-10-05T14:10:50.053411+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5549","user_name":"Claire Fryer-Smith","item_type":"entity","text":"reviewed gene: BRAF: 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: 10610177, 16474404, 19206169; Phenotypes: Cardiofaciocutaneous syndrome (MIM# 115150), Noonan syndrome (MIM# 613706), LEOPARD syndrome (MIM# 613707); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"BRAF","entity_type":"gene"},{"created":"2023-10-05T13:44:55.400533+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5549","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STXBP1 as ready","entity_name":"STXBP1","entity_type":"gene"},{"created":"2023-10-05T13:44:55.391216+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5549","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stxbp1 has been classified as Green List (High Evidence).","entity_name":"STXBP1","entity_type":"gene"},{"created":"2023-10-05T13:44:50.450256+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5549","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STXBP1 were changed from  to developmental and epileptic encephalopathy, 4 MONDO:0012812","entity_name":"STXBP1","entity_type":"gene"},{"created":"2023-10-05T13:44:15.992078+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5548","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STXBP1 were set to ","entity_name":"STXBP1","entity_type":"gene"},{"created":"2023-10-05T13:43:29.427651+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5547","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: STXBP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"STXBP1","entity_type":"gene"},{"created":"2023-10-05T13:42:29.891128+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5546","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FH as ready","entity_name":"FH","entity_type":"gene"},{"created":"2023-10-05T13:42:29.882664+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5546","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fh has been classified as Green List (High Evidence).","entity_name":"FH","entity_type":"gene"},{"created":"2023-10-05T13:42:25.130594+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5546","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FH were changed from  to Fumarase deficiency (MIM# 606812)","entity_name":"FH","entity_type":"gene"},{"created":"2023-10-05T13:41:50.097099+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5545","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FH were set to ","entity_name":"FH","entity_type":"gene"},{"created":"2023-10-05T13:41:12.434626+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5544","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FH","entity_type":"gene"},{"created":"2023-10-05T13:40:19.993901+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5543","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM70 as ready","entity_name":"TMEM70","entity_type":"gene"},{"created":"2023-10-05T13:40:19.973040+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5543","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem70 has been classified as Green List (High Evidence).","entity_name":"TMEM70","entity_type":"gene"},{"created":"2023-10-05T13:39:06.203745+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5543","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM70 were changed from  to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM# 614052","entity_name":"TMEM70","entity_type":"gene"},{"created":"2023-10-05T13:38:29.071265+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5542","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMEM70 were set to ","entity_name":"TMEM70","entity_type":"gene"},{"created":"2023-10-05T13:38:19.402914+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5541","user_name":"Claire Fryer-Smith","item_type":"entity","text":"reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31746132, 29052812, 21560188; Phenotypes: Fumarase deficiency (MIM# 606812); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FH","entity_type":"gene"},{"created":"2023-10-05T13:37:54.367386+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5541","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMEM70 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM70","entity_type":"gene"},{"created":"2023-10-05T13:37:16.598339+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5540","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TMEM70: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM# 614052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM70","entity_type":"gene"},{"created":"2023-10-05T13:36:15.356582+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5540","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM240 as ready","entity_name":"TMEM240","entity_type":"gene"},{"created":"2023-10-05T13:36:15.345429+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5540","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem240 has been classified as Green List (High Evidence).","entity_name":"TMEM240","entity_type":"gene"},{"created":"2023-10-05T13:36:06.614170+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5540","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMEM240 were set to ","entity_name":"TMEM240","entity_type":"gene"},{"created":"2023-10-05T13:35:31.378809+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5539","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM240 were changed from  to Spinocerebellar ataxia 21, MIM#\t607454; spinocerebellar ataxia type 21 MONDO:0011833","entity_name":"TMEM240","entity_type":"gene"},{"created":"2023-10-05T13:35:04.736389+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5538","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMEM240 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TMEM240","entity_type":"gene"},{"created":"2023-10-05T13:34:15.449790+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5537","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM216 as ready","entity_name":"TMEM216","entity_type":"gene"},{"created":"2023-10-05T13:34:15.440705+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5537","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem216 has been classified as Green List (High Evidence).","entity_name":"TMEM216","entity_type":"gene"},{"created":"2023-10-05T13:34:11.205843+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5537","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM216 were changed from  to Joubert syndrome 2 MONDO:0011963","entity_name":"TMEM216","entity_type":"gene"},{"created":"2023-10-05T13:33:19.645567+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5536","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMEM216 were set to ","entity_name":"TMEM216","entity_type":"gene"},{"created":"2023-10-05T13:29:56.552754+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5535","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMEM216 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM216","entity_type":"gene"},{"created":"2023-10-05T13:29:11.989850+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5534","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMCO1 as ready","entity_name":"TMCO1","entity_type":"gene"},{"created":"2023-10-05T13:29:11.973031+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5534","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmco1 has been classified as Green List (High Evidence).","entity_name":"TMCO1","entity_type":"gene"},{"created":"2023-10-05T13:29:07.640485+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5534","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMCO1 were changed from  to Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1, MIM#\t213980; cerebrofaciothoracic dysplasia MONDO:0008952","entity_name":"TMCO1","entity_type":"gene"},{"created":"2023-10-05T13:28:22.841714+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5533","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMCO1 were set to ","entity_name":"TMCO1","entity_type":"gene"},{"created":"2023-10-05T13:27:48.351615+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5532","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMCO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMCO1","entity_type":"gene"},{"created":"2023-10-05T13:27:01.251170+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5531","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TCF4 as ready","entity_name":"TCF4","entity_type":"gene"}]}