{"count":220937,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1621","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1619","results":[{"created":"2020-09-01T15:29:57.856654+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIF1BP as Green List (high evidence)","entity_name":"KIF1BP","entity_type":"gene"},{"created":"2020-09-01T15:29:57.846917+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif1bp has been classified as Green List (High Evidence).","entity_name":"KIF1BP","entity_type":"gene"},{"created":"2020-09-01T15:29:33.740942+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.254","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: KIF1BP.","entity_name":"KIF1BP","entity_type":"gene"},{"created":"2020-09-01T15:29:25.706259+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.254","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KIF1BP was added\ngene: KIF1BP was added to Microcephaly. Sources: Expert list\nMode of inheritance for gene: KIF1BP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF1BP were set to 23427148\nPhenotypes for gene: KIF1BP were set to Goldberg-Shprintzen megacolon syndrome, MIM#\t609460\nReview for gene: KIF1BP was set to GREEN\nAdded comment: Autosomal recessive multiple congenital anomaly syndrome characterised by intellectual disability, microcephaly, and dysmorphic facial features. Most individuals also have Hirschsprung disease and/or gyral abnormalities of the brain, consistent with defects in migration of neural crest cells and neurons. Other features, such as megalocornea or urogenital anomalies, may also be present. Well established gene-disease association, multiple families reported. Note HGNC approved name is KIAA1279. \nSources: Expert list","entity_name":"KIF1BP","entity_type":"gene"},{"created":"2020-09-01T15:21:23.208832+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.253","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KLHL7 as ready","entity_name":"KLHL7","entity_type":"gene"},{"created":"2020-09-01T15:21:23.198471+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.253","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klhl7 has been classified as Amber List (Moderate Evidence).","entity_name":"KLHL7","entity_type":"gene"},{"created":"2020-09-01T15:21:21.013356+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.253","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KLHL7 were changed from  to PERCHING syndrome, MIM# 617055","entity_name":"KLHL7","entity_type":"gene"},{"created":"2020-09-01T15:21:00.127319+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.252","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KLHL7 were set to ","entity_name":"KLHL7","entity_type":"gene"},{"created":"2020-09-01T15:20:38.875853+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.251","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KLHL7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"KLHL7","entity_type":"gene"},{"created":"2020-09-01T15:19:50.453636+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.250","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KLHL7 as Amber List (moderate evidence)","entity_name":"KLHL7","entity_type":"gene"},{"created":"2020-09-01T15:19:50.443834+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.250","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klhl7 has been classified as Amber List (Moderate Evidence).","entity_name":"KLHL7","entity_type":"gene"},{"created":"2020-09-01T15:19:23.356030+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KLHL7: Rating: AMBER; Mode of pathogenicity: None; Publications: 27392078, 29074562; Phenotypes: PERCHING syndrome, MIM# 617055; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KLHL7","entity_type":"gene"},{"created":"2020-09-01T15:01:03.499154+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRIP11 as ready","entity_name":"TRIP11","entity_type":"gene"},{"created":"2020-09-01T15:01:03.482877+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trip11 has been classified as Green List (High Evidence).","entity_name":"TRIP11","entity_type":"gene"},{"created":"2020-09-01T15:00:56.559392+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRIP11 were changed from  to Achondrogenesis, type IA, MIM# 200600","entity_name":"TRIP11","entity_type":"gene"},{"created":"2020-09-01T15:00:33.788373+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRIP11 were set to ","entity_name":"TRIP11","entity_type":"gene"},{"created":"2020-09-01T15:00:07.977500+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TRIP11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRIP11","entity_type":"gene"},{"created":"2020-09-01T14:59:40.761971+10:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TRIP11: Rating: GREEN; Mode of pathogenicity: None; Publications: 20089971; Phenotypes: Achondrogenesis, type IA, MIM# 200600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRIP11","entity_type":"gene"},{"created":"2020-09-01T14:57:12.658003+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4082","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRIP11 as ready","entity_name":"TRIP11","entity_type":"gene"},{"created":"2020-09-01T14:57:12.647000+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4082","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trip11 has been classified as Green List (High Evidence).","entity_name":"TRIP11","entity_type":"gene"},{"created":"2020-09-01T14:57:06.900543+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4082","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRIP11 were changed from  to Osteochondrodysplasia, 184260; Achondrogenesis, type IA, 200600","entity_name":"TRIP11","entity_type":"gene"},{"created":"2020-09-01T14:56:51.356674+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4081","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRIP11 were set to ","entity_name":"TRIP11","entity_type":"gene"},{"created":"2020-09-01T14:56:39.412603+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4080","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TRIP11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRIP11","entity_type":"gene"},{"created":"2020-09-01T14:55:53.377908+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4079","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRF1 as ready","entity_name":"PRF1","entity_type":"gene"},{"created":"2020-09-01T14:55:53.372506+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4079","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Principal association is between bi-allelic variants and HLH.","entity_name":"PRF1","entity_type":"gene"},{"created":"2020-09-01T14:55:53.338169+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4079","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prf1 has been classified as Green List (High Evidence).","entity_name":"PRF1","entity_type":"gene"},{"created":"2020-09-01T14:55:42.366343+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4079","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRF1 were changed from  to Aplastic anemia 609135; Hemophagocytic lymphohistiocytosis, familial, 2 603553; Lymphoma, non-Hodgkin 605027","entity_name":"PRF1","entity_type":"gene"},{"created":"2020-09-01T14:55:30.733846+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4078","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRF1 were set to ","entity_name":"PRF1","entity_type":"gene"},{"created":"2020-09-01T14:55:14.776646+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4077","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PRF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRF1","entity_type":"gene"},{"created":"2020-09-01T14:53:31.134023+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4076","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HLCS as ready","entity_name":"HLCS","entity_type":"gene"},{"created":"2020-09-01T14:53:31.120940+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4076","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hlcs has been classified as Green List (High Evidence).","entity_name":"HLCS","entity_type":"gene"},{"created":"2020-09-01T14:53:24.700362+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4076","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HLCS were changed from  to Holocarboxylase synthetase deficiency, MIM# 253270","entity_name":"HLCS","entity_type":"gene"},{"created":"2020-09-01T14:53:11.071748+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4075","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HLCS were set to ","entity_name":"HLCS","entity_type":"gene"},{"created":"2020-09-01T14:52:54.829205+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4074","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HLCS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HLCS","entity_type":"gene"},{"created":"2020-09-01T14:52:38.639878+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4073","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HLCS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Holocarboxylase synthetase deficiency, MIM# 253270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HLCS","entity_type":"gene"},{"created":"2020-09-01T14:50:37.344339+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4073","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CA5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperammonemia due to carbonic anhydrase VA deficiency, 615751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CA5A","entity_type":"gene"},{"created":"2020-09-01T14:50:10.581099+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.471","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: CA5A.","entity_name":"CA5A","entity_type":"gene"},{"created":"2020-09-01T14:49:39.815448+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4073","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CA5A as ready","entity_name":"CA5A","entity_type":"gene"},{"created":"2020-09-01T14:49:39.807428+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4073","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ca5a has been classified as Green List (High Evidence).","entity_name":"CA5A","entity_type":"gene"},{"created":"2020-09-01T14:49:33.189785+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4073","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CA5A were changed from  to Hyperammonemia due to carbonic anhydrase VA deficiency, 615751","entity_name":"CA5A","entity_type":"gene"},{"created":"2020-09-01T14:48:47.393459+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4072","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CA5A were set to ","entity_name":"CA5A","entity_type":"gene"},{"created":"2020-09-01T14:48:28.890048+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4071","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CA5A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CA5A","entity_type":"gene"},{"created":"2020-09-01T14:48:12.684265+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4070","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: CA5A.","entity_name":"CA5A","entity_type":"gene"},{"created":"2020-09-01T14:47:01.140589+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2914","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MOCS1 as ready","entity_name":"MOCS1","entity_type":"gene"},{"created":"2020-09-01T14:47:01.130659+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2914","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mocs1 has been classified as Green List (High Evidence).","entity_name":"MOCS1","entity_type":"gene"},{"created":"2020-09-01T14:46:58.010623+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2914","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MOCS1 were changed from  to Molybdenum cofactor deficiency A, MIM# 252150","entity_name":"MOCS1","entity_type":"gene"},{"created":"2020-09-01T14:46:33.247169+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2913","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MOCS1 were set to ","entity_name":"MOCS1","entity_type":"gene"},{"created":"2020-09-01T14:46:05.249617+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2912","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MOCS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MOCS1","entity_type":"gene"},{"created":"2020-09-01T14:45:37.364285+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2911","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MOCS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9921896, 12754701, 21031595; Phenotypes: Molybdenum cofactor deficiency A, MIM# 252150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MOCS1","entity_type":"gene"},{"created":"2020-09-01T14:44:54.730596+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.828","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MOCS1 as ready","entity_name":"MOCS1","entity_type":"gene"},{"created":"2020-09-01T14:44:54.710927+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.828","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mocs1 has been classified as Green List (High Evidence).","entity_name":"MOCS1","entity_type":"gene"},{"created":"2020-09-01T14:44:52.345053+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.828","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MOCS1 were changed from  to Molybdenum cofactor deficiency A, MIM# 252150","entity_name":"MOCS1","entity_type":"gene"},{"created":"2020-09-01T14:44:22.986679+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.827","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MOCS1 were set to ","entity_name":"MOCS1","entity_type":"gene"},{"created":"2020-09-01T14:44:00.454096+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.826","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MOCS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MOCS1","entity_type":"gene"},{"created":"2020-09-01T14:43:30.813033+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.825","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MOCS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9921896, 12754701, 21031595; Phenotypes: Molybdenum cofactor deficiency A, MIM# 252150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MOCS1","entity_type":"gene"},{"created":"2020-09-01T14:43:16.816909+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4070","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MOCS1 were changed from  to Molybdenum cofactor deficiency A, MIM# 252150","entity_name":"MOCS1","entity_type":"gene"},{"created":"2020-09-01T14:42:32.638588+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4069","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MOCS1 were set to ","entity_name":"MOCS1","entity_type":"gene"},{"created":"2020-09-01T14:42:07.303045+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4068","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MOCS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9921896, 12754701; Phenotypes: Molybdenum cofactor deficiency A, MIM# 252150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MOCS1","entity_type":"gene"},{"created":"2020-09-01T14:40:16.634666+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4068","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MOCS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MOCS1","entity_type":"gene"},{"created":"2020-09-01T14:31:02.760281+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4067","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OSR1 as ready","entity_name":"OSR1","entity_type":"gene"},{"created":"2020-09-01T14:31:02.749916+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4067","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: osr1 has been classified as Red List (Low Evidence).","entity_name":"OSR1","entity_type":"gene"},{"created":"2020-09-01T14:30:54.920576+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4067","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: OSR1 as Red List (low evidence)","entity_name":"OSR1","entity_type":"gene"},{"created":"2020-09-01T14:30:54.896155+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4067","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: osr1 has been classified as Red List (Low Evidence).","entity_name":"OSR1","entity_type":"gene"},{"created":"2020-09-01T14:30:40.592737+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4066","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: OSR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"OSR1","entity_type":"gene"},{"created":"2020-09-01T13:03:13.827640+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2911","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KDM1A as ready","entity_name":"KDM1A","entity_type":"gene"},{"created":"2020-09-01T13:03:13.817987+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2911","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kdm1a has been classified as Green List (High Evidence).","entity_name":"KDM1A","entity_type":"gene"},{"created":"2020-09-01T13:03:10.141455+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2911","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KDM1A were changed from  to Cleft palate, psychomotor retardation, and distinctive facial features 616728","entity_name":"KDM1A","entity_type":"gene"},{"created":"2020-09-01T13:02:51.417749+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2910","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KDM1A were set to ","entity_name":"KDM1A","entity_type":"gene"},{"created":"2020-09-01T13:02:22.789585+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2909","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KDM1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KDM1A","entity_type":"gene"},{"created":"2020-09-01T13:01:54.783355+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2908","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KDM1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26656649, 24838796, 27094131; Phenotypes: Cleft palate, psychomotor retardation, and distinctive facial features 616728; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KDM1A","entity_type":"gene"},{"created":"2020-09-01T13:00:57.180080+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4066","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KDM1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26656649, 24838796, 27094131; Phenotypes: Cleft palate, psychomotor retardation, and distinctive facial features 616728; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KDM1A","entity_type":"gene"},{"created":"2020-09-01T12:58:58.811875+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4066","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KDM1A as ready","entity_name":"KDM1A","entity_type":"gene"},{"created":"2020-09-01T12:58:58.801815+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4066","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kdm1a has been classified as Green List (High Evidence).","entity_name":"KDM1A","entity_type":"gene"},{"created":"2020-09-01T12:58:48.294785+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4066","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KDM1A were changed from  to Cleft palate, psychomotor retardation, and distinctive facial features 616728; Multiple myeloma","entity_name":"KDM1A","entity_type":"gene"},{"created":"2020-09-01T12:58:36.532000+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4065","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KDM1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KDM1A","entity_type":"gene"},{"created":"2020-09-01T12:58:18.258185+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4064","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KDM1A were set to ","entity_name":"KDM1A","entity_type":"gene"},{"created":"2020-09-01T12:54:03.282206+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4063","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: TRIP11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31903676, 30728324; Phenotypes: Osteochondrodysplasia, 184260, Achondrogenesis, type IA, 200600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRIP11","entity_type":"gene"},{"created":"2020-09-01T12:53:25.952980+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4063","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL11A1 as ready","entity_name":"COL11A1","entity_type":"gene"},{"created":"2020-09-01T12:53:25.943630+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4063","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col11a1 has been classified as Green List (High Evidence).","entity_name":"COL11A1","entity_type":"gene"},{"created":"2020-09-01T12:53:20.247300+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4063","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL11A1 were changed from  to Fibrochondrogenesis 1 (MIM#228520); Marshall syndrome (MIM#154780); Stickler syndrome, type II (MIM#604841)","entity_name":"COL11A1","entity_type":"gene"},{"created":"2020-09-01T12:52:59.174360+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4062","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COL11A1 were set to ","entity_name":"COL11A1","entity_type":"gene"},{"created":"2020-09-01T12:52:31.200609+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4061","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: PRF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19487666; Phenotypes: Aplastic anemia 609135, Hemophagocytic lymphohistiocytosis, familial, 2 603553, Lymphoma, non-Hodgkin 605027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRF1","entity_type":"gene"},{"created":"2020-09-01T12:51:44.660532+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4061","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: COL11A1 was changed from  to Other","entity_name":"COL11A1","entity_type":"gene"},{"created":"2020-09-01T12:51:29.810501+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4060","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COL11A1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"COL11A1","entity_type":"gene"},{"created":"2020-09-01T12:49:59.180136+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4059","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: HLCS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10190325; Phenotypes: Holocarboxylase synthetase deficiency, 253270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HLCS","entity_type":"gene"},{"created":"2020-09-01T12:48:19.884850+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4059","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: CA5A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26913920, 32381389; Phenotypes: Hyperammonemia due to carbonic anhydrase VA deficiency, 615751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CA5A","entity_type":"gene"},{"created":"2020-09-01T11:23:59.931207+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4059","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: MOCS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21031595; Phenotypes: Molybdenum cofactor deficiency A 252150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MOCS1","entity_type":"gene"},{"created":"2020-09-01T11:22:11.660169+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4059","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: KDM1A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29559475, 27094131; Phenotypes: Cleft palate, psychomotor retardation, and distinctive facial features 616728, Multiple myeloma; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"KDM1A","entity_type":"gene"},{"created":"2020-09-01T10:48:51.400120+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4059","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID 25073711, 30245514, 32427345, 27081569, 21035103; Phenotypes: Fibrochondrogenesis 1 (MIM#228520), Marshall syndrome (MIM#154780), Stickler syndrome, type II (MIM#604841), {Lumbar disc herniation, susceptibility to}, (MIM#603932), ?Deafness, autosomal dominant 37, (MIM#618533); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"COL11A1","entity_type":"gene"},{"created":"2020-09-01T09:26:39.548744+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GAS2L2 as Amber List (moderate evidence)","entity_name":"GAS2L2","entity_type":"gene"},{"created":"2020-09-01T09:26:39.538771+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gas2l2 has been classified as Amber List (Moderate Evidence).","entity_name":"GAS2L2","entity_type":"gene"},{"created":"2020-09-01T08:39:29.640511+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: GON7.","entity_name":"GON7","entity_type":"gene"},{"created":"2020-09-01T08:39:14.271055+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: GON7.","entity_name":"GON7","entity_type":"gene"},{"created":"2020-09-01T08:38:56.690101+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4059","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: GON7.","entity_name":"GON7","entity_type":"gene"},{"created":"2020-09-01T08:38:37.069595+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: YRDC as ready","entity_name":"YRDC","entity_type":"gene"},{"created":"2020-09-01T08:38:37.060418+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: yrdc has been classified as Green List (High Evidence).","entity_name":"YRDC","entity_type":"gene"},{"created":"2020-09-01T08:38:34.234089+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: YRDC as Green List (high evidence)","entity_name":"YRDC","entity_type":"gene"},{"created":"2020-09-01T08:38:34.226186+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: yrdc has been classified as Green List (High Evidence).","entity_name":"YRDC","entity_type":"gene"},{"created":"2020-09-01T08:38:32.071626+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: YRDC as ready","entity_name":"YRDC","entity_type":"gene"},{"created":"2020-09-01T08:38:32.060468+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: yrdc has been classified as Green List (High Evidence).","entity_name":"YRDC","entity_type":"gene"}]}