{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1829","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1827","results":[{"created":"2020-04-20T21:14:43.144614+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2478","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UBAP1 were changed from  to Spastic paraplegia 80, autosomal dominant\t618418","entity_name":"UBAP1","entity_type":"gene"},{"created":"2020-04-20T21:14:27.512070+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2477","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UBAP1 were set to ","entity_name":"UBAP1","entity_type":"gene"},{"created":"2020-04-20T21:14:00.823260+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2476","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: UBAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"UBAP1","entity_type":"gene"},{"created":"2020-04-20T21:12:51.053673+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC6A6 as ready","entity_name":"SLC6A6","entity_type":"gene"},{"created":"2020-04-20T21:12:51.041660+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc6a6 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC6A6","entity_type":"gene"},{"created":"2020-04-20T21:12:46.280928+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC6A6 as Amber List (moderate evidence)","entity_name":"SLC6A6","entity_type":"gene"},{"created":"2020-04-20T21:12:46.272286+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc6a6 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC6A6","entity_type":"gene"},{"created":"2020-04-20T21:12:16.541700+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC6A6 was added\ngene: SLC6A6 was added to Dilated Cardiomyopathy. Sources: Literature\nMode of inheritance for gene: SLC6A6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC6A6 were set to 31345061; 31903486; 29886034\nPhenotypes for gene: SLC6A6 were set to Early retinal degeneration; cardiomyopathy\nReview for gene: SLC6A6 was set to AMBER\nAdded comment: Different homozygous missense variants in 2 unrelated consanguineous families with early retinal degeneration, some functional studies. Patients in one of the families also had cardiomyopathy. (PMIDs: 31345061, 31903486) One dilated cardiomyopathy patient with a homozygous deletion at a splice site (PMID: 29886034). \nSources: Literature","entity_name":"SLC6A6","entity_type":"gene"},{"created":"2020-04-20T21:08:34.602672+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2475","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC6A6 as Amber List (moderate evidence)","entity_name":"SLC6A6","entity_type":"gene"},{"created":"2020-04-20T21:08:34.589322+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2475","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc6a6 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC6A6","entity_type":"gene"},{"created":"2020-04-20T21:05:46.940217+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2474","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MRPS14 were changed from Combined oxidative phosphorylation deficiency 38, MIM#\t618378 to Combined oxidative phosphorylation deficiency 38, MIM#\t618378; perinatal hypertrophic cardiomyopathy, growth retardation, muscle hypotonia, elevated lactate, dysmorphy and intellectual disability","entity_name":"MRPS14","entity_type":"gene"},{"created":"2020-04-20T21:04:53.965906+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMPRSS9 as ready","entity_name":"TMPRSS9","entity_type":"gene"},{"created":"2020-04-20T21:04:53.952545+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmprss9 has been classified as Red List (Low Evidence).","entity_name":"TMPRSS9","entity_type":"gene"},{"created":"2020-04-20T21:04:45.477437+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TMPRSS9 was added\ngene: TMPRSS9 was added to Autism. Sources: Literature\nMode of inheritance for gene: TMPRSS9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMPRSS9 were set to 31943016\nPhenotypes for gene: TMPRSS9 were set to autism spectrum disorder\nReview for gene: TMPRSS9 was set to RED\nAdded comment: Single individual reported. \nSources: Literature","entity_name":"TMPRSS9","entity_type":"gene"},{"created":"2020-04-20T21:03:18.912250+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MCAT as ready","entity_name":"MCAT","entity_type":"gene"},{"created":"2020-04-20T21:03:18.898884+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcat has been classified as Red List (Low Evidence).","entity_name":"MCAT","entity_type":"gene"},{"created":"2020-04-20T21:03:10.090099+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2473","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMPRSS9 as Red List (low evidence)","entity_name":"TMPRSS9","entity_type":"gene"},{"created":"2020-04-20T21:03:10.077228+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2473","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmprss9 has been classified as Red List (Low Evidence).","entity_name":"TMPRSS9","entity_type":"gene"},{"created":"2020-04-20T21:02:22.685945+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2472","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MCAT as ready","entity_name":"MCAT","entity_type":"gene"},{"created":"2020-04-20T21:02:22.677188+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2472","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcat has been classified as Red List (Low Evidence).","entity_name":"MCAT","entity_type":"gene"},{"created":"2020-04-20T21:02:20.411693+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MCAT was added\ngene: MCAT was added to Optic Atrophy. Sources: Literature\nMode of inheritance for gene: MCAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCAT were set to 31915829\nPhenotypes for gene: MCAT were set to progressive autosomal recessive optic neuropathy\nReview for gene: MCAT was set to RED\nAdded comment: Single family reported. \nSources: Literature","entity_name":"MCAT","entity_type":"gene"},{"created":"2020-04-20T21:00:52.320370+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2472","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MCAT as Red List (low evidence)","entity_name":"MCAT","entity_type":"gene"},{"created":"2020-04-20T21:00:52.310821+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2472","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcat has been classified as Red List (Low Evidence).","entity_name":"MCAT","entity_type":"gene"},{"created":"2020-04-20T20:58:32.566356+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.664","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SCN8A were set to 31625145; 30842224","entity_name":"SCN8A","entity_type":"gene"},{"created":"2020-04-20T20:57:51.390656+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.663","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SCN8A were set to 31625145","entity_name":"SCN8A","entity_type":"gene"},{"created":"2020-04-20T20:56:23.593601+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2471","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABCC1 as ready","entity_name":"ABCC1","entity_type":"gene"},{"created":"2020-04-20T20:56:23.583960+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2471","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcc1 has been classified as Amber List (Moderate Evidence).","entity_name":"ABCC1","entity_type":"gene"},{"created":"2020-04-20T20:56:13.812300+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2471","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ABCC1 as Amber List (moderate evidence)","entity_name":"ABCC1","entity_type":"gene"},{"created":"2020-04-20T20:56:13.803110+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2471","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcc1 has been classified as Amber List (Moderate Evidence).","entity_name":"ABCC1","entity_type":"gene"},{"created":"2020-04-20T20:55:55.292808+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2470","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ABCC1 was added\ngene: ABCC1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ABCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ABCC1 were set to 31273342\nPhenotypes for gene: ABCC1 were set to Nonsyndromic hearing loss\nReview for gene: ABCC1 was set to AMBER\nAdded comment: Total of 3 variants reported in 3 families, including 1 which segregates in a large family (10 affected) PMID: 31273342; Li 2019: Reported 3 different het missense in 3 families with postlingual ADNSHL. 1 missense segregated in a large Chinese family. This variant is present in gnomAD (10 hets), but onset noted to be in 2nd or 3rd decade of life. Functional studies performed. Other 2 variants reported absent in gnomAD. Amber rating in light of gnomad frequency of one of the reported variants. \nSources: Literature","entity_name":"ABCC1","entity_type":"gene"},{"created":"2020-04-20T20:54:02.616066+10:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.341","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABCC1 as ready","entity_name":"ABCC1","entity_type":"gene"},{"created":"2020-04-20T20:54:02.611972+10:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.341","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Keep as Amber for now in light of gnomad data about one of the variants.","entity_name":"ABCC1","entity_type":"gene"},{"created":"2020-04-20T20:54:02.582341+10:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.341","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcc1 has been classified as Amber List (Moderate Evidence).","entity_name":"ABCC1","entity_type":"gene"},{"created":"2020-04-20T20:53:41.381793+10:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.341","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ABCC1 as Amber List (moderate evidence)","entity_name":"ABCC1","entity_type":"gene"},{"created":"2020-04-20T20:53:41.373485+10:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.341","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcc1 has been classified as Amber List (Moderate Evidence).","entity_name":"ABCC1","entity_type":"gene"},{"created":"2020-04-20T20:52:52.308450+10:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.340","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ABCC1 as Amber List (moderate evidence)","entity_name":"ABCC1","entity_type":"gene"},{"created":"2020-04-20T20:52:52.296320+10:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.340","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcc1 has been classified as Amber List (Moderate Evidence).","entity_name":"ABCC1","entity_type":"gene"},{"created":"2020-04-20T20:51:34.055552+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2552","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GABRA1 as ready","entity_name":"GABRA1","entity_type":"gene"},{"created":"2020-04-20T20:51:34.042768+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2552","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gabra1 has been classified as Green List (High Evidence).","entity_name":"GABRA1","entity_type":"gene"},{"created":"2020-04-20T20:51:28.838294+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2552","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GABRA1 were changed from  to Epileptic encephalopathy, early infantile, 19 615744; Rett syndrome; Rett-like phenotypes; idiopathic generalized Epilepsy; Dravet syndrome","entity_name":"GABRA1","entity_type":"gene"},{"created":"2020-04-20T20:51:01.722149+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2551","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GABRA1 were set to ","entity_name":"GABRA1","entity_type":"gene"},{"created":"2020-04-20T20:50:28.556386+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2550","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GABRA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GABRA1","entity_type":"gene"},{"created":"2020-04-20T20:49:54.583063+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2549","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GABRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11992121, 21714819, 24623842, 30842224; Phenotypes: Epileptic encephalopathy, early infantile, 19 615744, Rett syndrome, Rett-like phenotypes, idiopathic generalized Epilepsy, Dravet syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GABRA1","entity_type":"gene"},{"created":"2020-04-20T20:48:58.979784+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.662","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GABRA1 as ready","entity_name":"GABRA1","entity_type":"gene"},{"created":"2020-04-20T20:48:58.960168+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.662","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gabra1 has been classified as Green List (High Evidence).","entity_name":"GABRA1","entity_type":"gene"},{"created":"2020-04-20T20:48:41.291958+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.662","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GABRA1 were changed from  to Epileptic encephalopathy, early infantile, 19 615744; Rett syndrome; Rett-like phenotypes; idiopathic generalized Epilepsy; Dravet syndrome","entity_name":"GABRA1","entity_type":"gene"},{"created":"2020-04-20T20:48:16.880815+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.661","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GABRA1 were set to ","entity_name":"GABRA1","entity_type":"gene"},{"created":"2020-04-20T20:47:46.313046+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.660","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GABRA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GABRA1","entity_type":"gene"},{"created":"2020-04-20T20:47:14.013837+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.659","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GABRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11992121, 21714819, 24623842, 30842224; Phenotypes: Epileptic encephalopathy, early infantile, 19 615744, Rett syndrome, Rett-like phenotypes, idiopathic generalized Epilepsy, Dravet syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GABRA1","entity_type":"gene"},{"created":"2020-04-20T20:45:48.337440+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2469","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GABRA1 as ready","entity_name":"GABRA1","entity_type":"gene"},{"created":"2020-04-20T20:45:48.324382+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2469","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gabra1 has been classified as Green List (High Evidence).","entity_name":"GABRA1","entity_type":"gene"},{"created":"2020-04-20T20:45:36.266749+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2469","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GABRA1 were set to ","entity_name":"GABRA1","entity_type":"gene"},{"created":"2020-04-20T20:45:20.866366+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2468","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GABRA1 were changed from  to Epileptic encephalopathy, early infantile, 19\t615744; Rett syndrome; Rett-like phenotypes; idiopathic generalized Epilepsy; Dravet syndrome","entity_name":"GABRA1","entity_type":"gene"},{"created":"2020-04-20T20:44:29.527479+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2467","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GABRA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GABRA1","entity_type":"gene"},{"created":"2020-04-20T20:42:10.764790+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2466","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SIGMAR1 as ready","entity_name":"SIGMAR1","entity_type":"gene"},{"created":"2020-04-20T20:42:10.751536+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2466","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sigmar1 has been classified as Green List (High Evidence).","entity_name":"SIGMAR1","entity_type":"gene"},{"created":"2020-04-20T20:42:02.208721+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2466","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SIGMAR1 were changed from  to Amyotrophic lateral sclerosis 16, juvenile 614373; ?Spinal muscular atrophy, distal, autosomal recessive, 2 605726; distal hereditary motor neuropathy of Jerash type (HMNJ)","entity_name":"SIGMAR1","entity_type":"gene"},{"created":"2020-04-20T20:41:14.328574+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2465","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SIGMAR1 were set to ","entity_name":"SIGMAR1","entity_type":"gene"},{"created":"2020-04-20T20:40:54.950016+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2464","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SIGMAR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SIGMAR1","entity_type":"gene"},{"created":"2020-04-20T20:40:11.037610+10:00","panel_name":"Vitreoretinopathy","panel_id":3113,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATOH7 as ready","entity_name":"ATOH7","entity_type":"gene"},{"created":"2020-04-20T20:40:11.028562+10:00","panel_name":"Vitreoretinopathy","panel_id":3113,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atoh7 has been classified as Green List (High Evidence).","entity_name":"ATOH7","entity_type":"gene"},{"created":"2020-04-20T20:40:08.217060+10:00","panel_name":"Vitreoretinopathy","panel_id":3113,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATOH7 were changed from  to Persistent hyperplastic primary vitreous, autosomal recessive, MIM# 221900; microphthalmia; cataract; glaucoma; congenital retinal nonattachment","entity_name":"ATOH7","entity_type":"gene"},{"created":"2020-04-20T20:39:56.282132+10:00","panel_name":"Vitreoretinopathy","panel_id":3113,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATOH7 were set to ","entity_name":"ATOH7","entity_type":"gene"},{"created":"2020-04-20T20:39:47.425767+10:00","panel_name":"Vitreoretinopathy","panel_id":3113,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATOH7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATOH7","entity_type":"gene"},{"created":"2020-04-20T20:39:36.266405+10:00","panel_name":"Vitreoretinopathy","panel_id":3113,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATOH7: Rating: GREEN; Mode of pathogenicity: None; Publications: 22068589, 22645276, 31696227, 11493566, 11493566; Phenotypes: Persistent hyperplastic primary vitreous, autosomal recessive, MIM# 221900, microphthalmia, cataract, glaucoma, congenital retinal nonattachment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATOH7","entity_type":"gene"},{"created":"2020-04-20T20:38:44.057753+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2463","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATOH7 as ready","entity_name":"ATOH7","entity_type":"gene"},{"created":"2020-04-20T20:38:44.044293+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2463","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atoh7 has been classified as Green List (High Evidence).","entity_name":"ATOH7","entity_type":"gene"},{"created":"2020-04-20T20:38:14.316867+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2463","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATOH7 were changed from  to Persistent hyperplastic primary vitreous, autosomal recessive, MIM#\t221900; microphthalmia; cataract; glaucoma; congenital retinal nonattachment","entity_name":"ATOH7","entity_type":"gene"},{"created":"2020-04-20T20:37:24.986853+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2462","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATOH7 were set to ","entity_name":"ATOH7","entity_type":"gene"},{"created":"2020-04-20T20:36:55.987721+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2549","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNAI2 as ready","entity_name":"GNAI2","entity_type":"gene"},{"created":"2020-04-20T20:36:55.971958+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2549","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnai2 has been classified as Amber List (Moderate Evidence).","entity_name":"GNAI2","entity_type":"gene"},{"created":"2020-04-20T20:36:52.235367+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2461","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATOH7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATOH7","entity_type":"gene"},{"created":"2020-04-20T20:35:58.908542+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2460","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GNAI2 as Amber List (moderate evidence)","entity_name":"GNAI2","entity_type":"gene"},{"created":"2020-04-20T20:35:58.899647+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2460","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnai2 has been classified as Amber List (Moderate Evidence).","entity_name":"GNAI2","entity_type":"gene"},{"created":"2020-04-20T20:35:39.543482+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2459","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GNAI2: Rating: AMBER; Mode of pathogenicity: None; Publications: 27787898; Phenotypes: Syndromic intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GNAI2","entity_type":"gene"},{"created":"2020-04-20T20:34:57.383227+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2549","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GNAI2 as Amber List (moderate evidence)","entity_name":"GNAI2","entity_type":"gene"},{"created":"2020-04-20T20:34:57.369773+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2549","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnai2 has been classified as Amber List (Moderate Evidence).","entity_name":"GNAI2","entity_type":"gene"},{"created":"2020-04-20T20:34:23.655552+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2548","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Single individual with de novo variant reported. \nSources: Literature; to: Two individuals reported, some functional data.\r\nSources: Literature","entity_name":"GNAI2","entity_type":"gene"},{"created":"2020-04-20T20:34:08.569413+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2548","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GNAI2: Changed rating: AMBER; Changed publications: 31036916, 27787898","entity_name":"GNAI2","entity_type":"gene"},{"created":"2020-04-20T20:33:05.003113+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2548","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GNAI2 was added\ngene: GNAI2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: GNAI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GNAI2 were set to 31036916\nPhenotypes for gene: GNAI2 were set to Syndromic intellectual disability\nReview for gene: GNAI2 was set to RED\nAdded comment: Single individual with de novo variant reported. \nSources: Literature","entity_name":"GNAI2","entity_type":"gene"},{"created":"2020-04-20T20:29:17.227159+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2459","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNAI2 as ready","entity_name":"GNAI2","entity_type":"gene"},{"created":"2020-04-20T20:29:17.217850+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2459","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnai2 has been classified as Red List (Low Evidence).","entity_name":"GNAI2","entity_type":"gene"},{"created":"2020-04-20T20:28:48.062370+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2459","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GNAI2 as Red List (low evidence)","entity_name":"GNAI2","entity_type":"gene"},{"created":"2020-04-20T20:28:48.052473+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2459","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnai2 has been classified as Red List (Low Evidence).","entity_name":"GNAI2","entity_type":"gene"},{"created":"2020-04-20T20:27:38.264448+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2458","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KLHL24 were changed from Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy to Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy; Hypertrophic cardiomyopathy","entity_name":"KLHL24","entity_type":"gene"},{"created":"2020-04-20T20:27:02.753498+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2457","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KLHL24 were set to 29779254; 30120936","entity_name":"KLHL24","entity_type":"gene"},{"created":"2020-04-20T20:26:46.630793+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2456","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KLHL24 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"KLHL24","entity_type":"gene"},{"created":"2020-04-20T20:26:24.409050+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2455","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KLHL24: Rating: GREEN; Mode of pathogenicity: None; Publications: 30715372; Phenotypes: Hypertrophic cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KLHL24","entity_type":"gene"},{"created":"2020-04-20T20:25:54.583103+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KLHL24 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"KLHL24","entity_type":"gene"},{"created":"2020-04-20T20:24:53.367789+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KLHL24 were changed from Epidermolysis bullosa simplex, generalized, with scarring and hair loss, 617294; Hypertrophic cardiomyopathy to Hypertrophic cardiomyopathy","entity_name":"KLHL24","entity_type":"gene"},{"created":"2020-04-20T20:24:32.851347+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KLHL24 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"KLHL24","entity_type":"gene"},{"created":"2020-04-20T20:24:10.855837+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KLHL24 as Green List (high evidence)","entity_name":"KLHL24","entity_type":"gene"},{"created":"2020-04-20T20:24:10.846248+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klhl24 has been classified as Green List (High Evidence).","entity_name":"KLHL24","entity_type":"gene"},{"created":"2020-04-20T20:22:47.425468+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2547","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FEM1B as ready","entity_name":"FEM1B","entity_type":"gene"},{"created":"2020-04-20T20:22:47.416271+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2547","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fem1b has been classified as Amber List (Moderate Evidence).","entity_name":"FEM1B","entity_type":"gene"},{"created":"2020-04-20T20:22:42.131557+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2547","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FEM1B as Amber List (moderate evidence)","entity_name":"FEM1B","entity_type":"gene"},{"created":"2020-04-20T20:22:42.118053+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2547","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fem1b has been classified as Amber List (Moderate Evidence).","entity_name":"FEM1B","entity_type":"gene"},{"created":"2020-04-20T20:22:09.244794+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2546","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FEM1B was added\ngene: FEM1B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: FEM1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FEM1B were set to 31036916\nPhenotypes for gene: FEM1B were set to Syndromic intellectual disability\nReview for gene: FEM1B was set to AMBER\nAdded comment: No OMIM phenotype PMID: 31036916 - a single de novo patient reported in a neurodevelopmental disorder cohort. Authors note another de novo case with the exact same variant (p.Arg126Gln) from the DDD study, and a 3rd patient from GeneMatcher with the same de novo missense again. Decipher shows this variant to be in a highly constrained region of the protein. Cannot be certain the DDD and GeneMatcher individuals are unrelated, therefore treat as two reports for now. \nSources: Literature","entity_name":"FEM1B","entity_type":"gene"},{"created":"2020-04-20T20:19:51.425496+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2545","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WIPI2 as ready","entity_name":"WIPI2","entity_type":"gene"},{"created":"2020-04-20T20:19:51.411895+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2545","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wipi2 has been classified as Red List (Low Evidence).","entity_name":"WIPI2","entity_type":"gene"}]}