{"count":220833,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1974","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1972","results":[{"created":"2020-01-21T16:52:54.559062+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.877","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdh2 has been classified as Green List (High Evidence).","entity_name":"CDH2","entity_type":"gene"},{"created":"2020-01-21T16:51:51.474760+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CDH2 was added\ngene: CDH2 was added to Callosome. Sources: Literature\nMode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDH2 were set to 31585109\nPhenotypes for gene: CDH2 were set to Intellectual disability; corpus callosum abnormalities; congenital abnormalities\nReview for gene: CDH2 was set to GREEN\nAdded comment: Nine unrelated individuals reported with de novo variants in this gene. \nSources: Literature","entity_name":"CDH2","entity_type":"gene"},{"created":"2020-01-21T16:51:20.372432+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.876","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CDH2 was added\ngene: CDH2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDH2 were set to 31585109\nPhenotypes for gene: CDH2 were set to Intellectual disability; corpus callosum abnormalities; congenital abnormalities\nReview for gene: CDH2 was set to GREEN\nAdded comment: Nine unrelated individuals reported with de novo variants in this gene. \nSources: Literature","entity_name":"CDH2","entity_type":"gene"},{"created":"2020-01-21T16:50:19.744538+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1638","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDH2 as ready","entity_name":"CDH2","entity_type":"gene"},{"created":"2020-01-21T16:50:19.732388+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1638","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdh2 has been classified as Green List (High Evidence).","entity_name":"CDH2","entity_type":"gene"},{"created":"2020-01-21T16:49:42.794602+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1638","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CDH2 as Green List (high evidence)","entity_name":"CDH2","entity_type":"gene"},{"created":"2020-01-21T16:49:42.783009+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1638","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdh2 has been classified as Green List (High Evidence).","entity_name":"CDH2","entity_type":"gene"},{"created":"2020-01-21T16:48:26.842847+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1637","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CDH2 was added\ngene: CDH2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDH2 were set to 31585109\nPhenotypes for gene: CDH2 were set to Intellectual disability; corpus callosum abnormalities; congenital abnormalities\nReview for gene: CDH2 was set to GREEN\nAdded comment: Nine unrelated individuals reported with de novo variants in this gene. \nSources: Literature","entity_name":"CDH2","entity_type":"gene"},{"created":"2020-01-21T16:37:07.982764+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.875","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NTNG2 were changed from Intellectual disability; autism; dysmorphic features to Intellectual disability; autism; dysmorphic features; Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM#\t618718","entity_name":"NTNG2","entity_type":"gene"},{"created":"2020-01-21T16:36:50.208838+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1636","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NTNG2 were changed from Intellectual disability; autism; dysmorphic features to Intellectual disability; autism; dysmorphic features; Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM#\t618718","entity_name":"NTNG2","entity_type":"gene"},{"created":"2020-01-21T14:34:07.306925+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1635","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NTNG2 as ready","entity_name":"NTNG2","entity_type":"gene"},{"created":"2020-01-21T14:34:07.294245+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1635","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ntng2 has been classified as Green List (High Evidence).","entity_name":"NTNG2","entity_type":"gene"},{"created":"2020-01-21T14:33:49.738871+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1635","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NTNG2 as Green List (high evidence)","entity_name":"NTNG2","entity_type":"gene"},{"created":"2020-01-21T14:33:49.726284+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1635","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ntng2 has been classified as Green List (High Evidence).","entity_name":"NTNG2","entity_type":"gene"},{"created":"2020-01-21T14:33:48.619946+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.874","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NTNG2 as ready","entity_name":"NTNG2","entity_type":"gene"},{"created":"2020-01-21T14:33:48.607184+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.874","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ntng2 has been classified as Green List (High Evidence).","entity_name":"NTNG2","entity_type":"gene"},{"created":"2020-01-21T14:33:36.389271+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.874","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NTNG2 were set to ","entity_name":"NTNG2","entity_type":"gene"},{"created":"2020-01-21T14:32:51.860765+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.873","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NTNG2 were changed from  to Intellectual disability; autism; dysmorphic features","entity_name":"NTNG2","entity_type":"gene"},{"created":"2020-01-21T14:32:45.362976+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1634","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NTNG2 was added\ngene: NTNG2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: NTNG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NTNG2 were set to 31668703\nPhenotypes for gene: NTNG2 were set to Intellectual disability; autism; dysmorphic features\nReview for gene: NTNG2 was set to GREEN\nAdded comment: 16 individuals from 7 unrelated families. \nSources: Literature","entity_name":"NTNG2","entity_type":"gene"},{"created":"2020-01-21T14:32:40.929023+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.872","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NTNG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NTNG2","entity_type":"gene"},{"created":"2020-01-21T14:32:01.442088+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.871","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NTNG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31668703; Phenotypes: Intellectual disability, autism, dysmorphic features; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NTNG2","entity_type":"gene"},{"created":"2020-01-21T14:28:04.549240+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.871","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPL13 as ready","entity_name":"RPL13","entity_type":"gene"},{"created":"2020-01-21T14:28:04.537057+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.871","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl13 has been classified as Green List (High Evidence).","entity_name":"RPL13","entity_type":"gene"},{"created":"2020-01-21T14:27:51.294646+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.871","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPL13 as Green List (high evidence)","entity_name":"RPL13","entity_type":"gene"},{"created":"2020-01-21T14:27:51.283545+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.871","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl13 has been classified as Green List (High Evidence).","entity_name":"RPL13","entity_type":"gene"},{"created":"2020-01-21T14:27:32.622248+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.870","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPL13 was added\ngene: RPL13 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RPL13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RPL13 were set to 31630789\nPhenotypes for gene: RPL13 were set to Spondyloepimetaphyseal Dysplasia with Severe Short Stature\nReview for gene: RPL13 was set to GREEN\nAdded comment: Four unrelated individuals reported with de novo variants. \nSources: Literature","entity_name":"RPL13","entity_type":"gene"},{"created":"2020-01-21T14:25:53.785210+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPL13 as ready","entity_name":"RPL13","entity_type":"gene"},{"created":"2020-01-21T14:25:53.773409+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl13 has been classified as Green List (High Evidence).","entity_name":"RPL13","entity_type":"gene"},{"created":"2020-01-21T14:25:44.072295+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RPL13: Rating: GREEN; Mode of pathogenicity: None; Publications: 31630789; Phenotypes: Spondyloepimetaphyseal Dysplasia with Severe Short Stature; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RPL13","entity_type":"gene"},{"created":"2020-01-21T14:19:47.126513+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.869","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOXJ1 as ready","entity_name":"FOXJ1","entity_type":"gene"},{"created":"2020-01-21T14:19:47.114641+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.869","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxj1 has been classified as Green List (High Evidence).","entity_name":"FOXJ1","entity_type":"gene"},{"created":"2020-01-21T14:19:33.540355+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.869","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FOXJ1 were changed from  to hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry","entity_name":"FOXJ1","entity_type":"gene"},{"created":"2020-01-21T14:19:32.896767+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOXJ1 as ready","entity_name":"FOXJ1","entity_type":"gene"},{"created":"2020-01-21T14:19:32.883447+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxj1 has been classified as Green List (High Evidence).","entity_name":"FOXJ1","entity_type":"gene"},{"created":"2020-01-21T14:19:14.496542+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.868","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FOXJ1 were set to ","entity_name":"FOXJ1","entity_type":"gene"},{"created":"2020-01-21T14:18:55.698374+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.867","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FOXJ1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FOXJ1","entity_type":"gene"},{"created":"2020-01-21T14:18:38.410686+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FOXJ1 as Green List (high evidence)","entity_name":"FOXJ1","entity_type":"gene"},{"created":"2020-01-21T14:18:38.399204+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxj1 has been classified as Green List (High Evidence).","entity_name":"FOXJ1","entity_type":"gene"},{"created":"2020-01-21T14:18:34.369784+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.866","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FOXJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31630787; Phenotypes: hydrocephalus, chronic destructive airway disease, randomization of left/right body asymmetry; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FOXJ1","entity_type":"gene"},{"created":"2020-01-21T14:17:24.168141+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FOXJ1 was added\ngene: FOXJ1 was added to Ciliary Dyskinesia. Sources: Literature\nMode of inheritance for gene: FOXJ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXJ1 were set to 31630787\nPhenotypes for gene: FOXJ1 were set to hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry\nReview for gene: FOXJ1 was set to GREEN\nAdded comment: Six unrelated individuals with de novo variants in this gene. \nSources: Literature","entity_name":"FOXJ1","entity_type":"gene"},{"created":"2020-01-21T14:12:57.133170+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1633","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUBGCP2 as ready","entity_name":"TUBGCP2","entity_type":"gene"},{"created":"2020-01-21T14:12:57.121556+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1633","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tubgcp2 has been classified as Green List (High Evidence).","entity_name":"TUBGCP2","entity_type":"gene"},{"created":"2020-01-21T14:12:50.759536+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1633","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TUBGCP2 as Green List (high evidence)","entity_name":"TUBGCP2","entity_type":"gene"},{"created":"2020-01-21T14:12:50.747928+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1633","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tubgcp2 has been classified as Green List (High Evidence).","entity_name":"TUBGCP2","entity_type":"gene"},{"created":"2020-01-21T14:12:14.453652+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1632","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TUBGCP2 was added\ngene: TUBGCP2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TUBGCP2 were set to 31630790\nPhenotypes for gene: TUBGCP2 were set to Lissencephaly; pachygyria; subcortical band heterotopia; microcephaly; intellectual disability\nReview for gene: TUBGCP2 was set to GREEN\nAdded comment: Four unrelated families reported. \nSources: Literature","entity_name":"TUBGCP2","entity_type":"gene"},{"created":"2020-01-21T14:11:35.444452+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUBGCP2 as ready","entity_name":"TUBGCP2","entity_type":"gene"},{"created":"2020-01-21T14:11:35.433054+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tubgcp2 has been classified as Green List (High Evidence).","entity_name":"TUBGCP2","entity_type":"gene"},{"created":"2020-01-21T14:11:21.898519+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TUBGCP2 as Green List (high evidence)","entity_name":"TUBGCP2","entity_type":"gene"},{"created":"2020-01-21T14:11:21.887321+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tubgcp2 has been classified as Green List (High Evidence).","entity_name":"TUBGCP2","entity_type":"gene"},{"created":"2020-01-21T14:10:11.169172+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TUBGCP2 was added\ngene: TUBGCP2 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TUBGCP2 were set to 31630790\nPhenotypes for gene: TUBGCP2 were set to Lissencephaly; pachygyria; subcortical band heterotopia; microcephaly; intellectual disability\nReview for gene: TUBGCP2 was set to GREEN\nAdded comment: Four unrelated families reported. \nSources: Literature","entity_name":"TUBGCP2","entity_type":"gene"},{"created":"2020-01-21T14:09:46.756294+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.866","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUBGCP2 as ready","entity_name":"TUBGCP2","entity_type":"gene"},{"created":"2020-01-21T14:09:46.742696+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.866","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tubgcp2 has been classified as Green List (High Evidence).","entity_name":"TUBGCP2","entity_type":"gene"},{"created":"2020-01-21T14:08:17.303228+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.866","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TUBGCP2 as Green List (high evidence)","entity_name":"TUBGCP2","entity_type":"gene"},{"created":"2020-01-21T14:08:17.291067+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.866","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tubgcp2 has been classified as Green List (High Evidence).","entity_name":"TUBGCP2","entity_type":"gene"},{"created":"2020-01-21T14:07:57.414930+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.865","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TUBGCP2 was added\ngene: TUBGCP2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TUBGCP2 were set to 31630790\nPhenotypes for gene: TUBGCP2 were set to Lissencephaly; pachygyria; subcortical band heterotopia; microcephaly; intellectual disability\nReview for gene: TUBGCP2 was set to GREEN\nAdded comment: Four unrelated families reported. \nSources: Literature","entity_name":"TUBGCP2","entity_type":"gene"},{"created":"2020-01-21T14:07:18.288476+11:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TUBGCP2 as Green List (high evidence)","entity_name":"TUBGCP2","entity_type":"gene"},{"created":"2020-01-21T14:07:18.276308+11:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tubgcp2 has been classified as Green List (High Evidence).","entity_name":"TUBGCP2","entity_type":"gene"},{"created":"2020-01-21T14:05:51.687050+11:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TUBGCP2 was added\ngene: TUBGCP2 was added to Lissencephaly and Band Heterotopia. Sources: Literature\nMode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TUBGCP2 were set to 31630790\nPhenotypes for gene: TUBGCP2 were set to Lissencephaly; pachygyria; subcortical band heterotopia; microcephaly; intellectual disability\nReview for gene: TUBGCP2 was set to GREEN\nAdded comment: Four unrelated families reported. \nSources: Literature","entity_name":"TUBGCP2","entity_type":"gene"},{"created":"2020-01-21T13:58:52.187166+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.864","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RRAS2 as ready","entity_name":"RRAS2","entity_type":"gene"},{"created":"2020-01-21T13:58:52.171259+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.864","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rras2 has been classified as Green List (High Evidence).","entity_name":"RRAS2","entity_type":"gene"},{"created":"2020-01-21T13:58:41.437266+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.864","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RRAS2 were changed from  to Noonan syndrome 12, OMIM #618624","entity_name":"RRAS2","entity_type":"gene"},{"created":"2020-01-21T13:58:04.561954+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.863","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RRAS2 were set to ","entity_name":"RRAS2","entity_type":"gene"},{"created":"2020-01-21T13:57:47.396587+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.862","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RRAS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RRAS2","entity_type":"gene"},{"created":"2020-01-21T13:57:24.417305+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.861","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RRAS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31130282; Phenotypes: Noonan syndrome 12, OMIM #618624; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RRAS2","entity_type":"gene"},{"created":"2020-01-21T13:55:41.990075+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.39","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SOS1 was added\ngene: SOS1 was added to Inherited Vascular Malformations. Sources: Expert list\nMode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SOS1 were set to 29907801\nPhenotypes for gene: SOS1 were set to Noonan syndrome 4 610733\nReview for gene: SOS1 was set to RED\nAdded comment: Cystic hygromas are not a prominent feature of SOS1 associated Noonan syndrome \nSources: Expert list","entity_name":"SOS1","entity_type":"gene"},{"created":"2020-01-21T13:55:36.422774+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1631","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TP73 as ready","entity_name":"TP73","entity_type":"gene"},{"created":"2020-01-21T13:55:36.411141+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1631","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tp73 has been classified as Amber List (Moderate Evidence).","entity_name":"TP73","entity_type":"gene"},{"created":"2020-01-21T13:55:14.053382+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1631","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TP73 as Amber List (moderate evidence)","entity_name":"TP73","entity_type":"gene"},{"created":"2020-01-21T13:55:14.041308+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1631","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tp73 has been classified as Amber List (Moderate Evidence).","entity_name":"TP73","entity_type":"gene"},{"created":"2020-01-21T13:54:09.232443+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1630","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TP73 was added\ngene: TP73 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TP73 were set to 31130284\nPhenotypes for gene: TP73 were set to Intellectual disability; lissencephaly\nReview for gene: TP73 was set to AMBER\nAdded comment: Two unrelated families, no functional data. \nSources: Literature","entity_name":"TP73","entity_type":"gene"},{"created":"2020-01-21T13:50:47.994382+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.38","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PTPN14 as Green List (high evidence)","entity_name":"PTPN14","entity_type":"gene"},{"created":"2020-01-21T13:50:47.982315+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.38","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ptpn14 has been classified as Green List (High Evidence).","entity_name":"PTPN14","entity_type":"gene"},{"created":"2020-01-21T13:50:35.733014+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.37","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PTPN14 was added\ngene: PTPN14 was added to Inherited Vascular Malformations. Sources: Expert list\nMode of inheritance for gene: PTPN14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PTPN14 were set to Choanal atresia and lymphedema 613611\nReview for gene: PTPN14 was set to GREEN\nAdded comment: Lymphedema is a prominent feature of the condition. \nSources: Expert list","entity_name":"PTPN14","entity_type":"gene"},{"created":"2020-01-21T13:49:31.828902+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1629","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMG8 as ready","entity_name":"SMG8","entity_type":"gene"},{"created":"2020-01-21T13:49:31.817458+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1629","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smg8 has been classified as Amber List (Moderate Evidence).","entity_name":"SMG8","entity_type":"gene"},{"created":"2020-01-21T13:49:21.444385+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1629","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SMG8 as Amber List (moderate evidence)","entity_name":"SMG8","entity_type":"gene"},{"created":"2020-01-21T13:49:21.432777+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1629","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smg8 has been classified as Amber List (Moderate Evidence).","entity_name":"SMG8","entity_type":"gene"},{"created":"2020-01-21T13:48:42.889084+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1628","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMG8 was added\ngene: SMG8 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SMG8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMG8 were set to 31130284\nPhenotypes for gene: SMG8 were set to Intellectual disability\nReview for gene: SMG8 was set to AMBER\nAdded comment: Two unrelated families, no functional data. \nSources: Literature","entity_name":"SMG8","entity_type":"gene"},{"created":"2020-01-21T13:46:27.582942+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1627","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IQSEC3 as ready","entity_name":"IQSEC3","entity_type":"gene"},{"created":"2020-01-21T13:46:27.571251+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1627","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: iqsec3 has been classified as Amber List (Moderate Evidence).","entity_name":"IQSEC3","entity_type":"gene"},{"created":"2020-01-21T13:46:20.316022+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.36","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PTPN11 as Red List (low evidence)","entity_name":"PTPN11","entity_type":"gene"},{"created":"2020-01-21T13:46:20.310540+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.36","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Paediatric gene that isn't suitable for testing of vascular malformations in an adult hospital","entity_name":"PTPN11","entity_type":"gene"},{"created":"2020-01-21T13:46:20.281850+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.36","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ptpn11 has been classified as Red List (Low Evidence).","entity_name":"PTPN11","entity_type":"gene"},{"created":"2020-01-21T13:46:12.771550+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1627","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IQSEC3 as Amber List (moderate evidence)","entity_name":"IQSEC3","entity_type":"gene"},{"created":"2020-01-21T13:46:12.759914+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1627","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: iqsec3 has been classified as Amber List (Moderate Evidence).","entity_name":"IQSEC3","entity_type":"gene"},{"created":"2020-01-21T13:45:32.949300+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.35","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PTPN11 was added\ngene: PTPN11 was added to Inherited Vascular Malformations. Sources: Expert list\nMode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PTPN11 were set to 27193571; 24939587; 29907801\nPhenotypes for gene: PTPN11 were set to LEOPARD syndrome 1 151100; Noonan syndrome 1 163950; cystic hygroma\nReview for gene: PTPN11 was set to GREEN\nAdded comment: A pathogenic de novo variant was identied in a case diagnosed with megalencephaly-capillary malformation (MCAP) syndrome. However, the cases also had a somatic mosaic variant in PIK3CA which is the usual cause of MCAP. One of the prominent features of Noonan syndrome caused by this gene is cystic hygromas. \nSources: Expert list","entity_name":"PTPN11","entity_type":"gene"},{"created":"2020-01-21T13:45:04.856889+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1626","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IQSEC3 was added\ngene: IQSEC3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: IQSEC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IQSEC3 were set to 31130284\nPhenotypes for gene: IQSEC3 were set to Intellectual disability\nReview for gene: IQSEC3 was set to AMBER\nAdded comment: Two unrelated families, no functional data. \nSources: Literature","entity_name":"IQSEC3","entity_type":"gene"},{"created":"2020-01-21T13:40:12.413322+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1625","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ICE1 as ready","entity_name":"ICE1","entity_type":"gene"},{"created":"2020-01-21T13:40:12.399836+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1625","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ice1 has been classified as Amber List (Moderate Evidence).","entity_name":"ICE1","entity_type":"gene"},{"created":"2020-01-21T13:39:58.839032+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1625","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ICE1 as Amber List (moderate evidence)","entity_name":"ICE1","entity_type":"gene"},{"created":"2020-01-21T13:39:58.826956+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1625","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ice1 has been classified as Amber List (Moderate Evidence).","entity_name":"ICE1","entity_type":"gene"},{"created":"2020-01-21T13:38:50.147355+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1624","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ICE1 was added\ngene: ICE1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ICE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ICE1 were set to 31130284\nPhenotypes for gene: ICE1 were set to Intellectual disability, cerebral atrophy\nReview for gene: ICE1 was set to AMBER\nAdded comment: Two unrelated families reported, no functional data; part of large consanguineous cohort, mixed phenotypes. \nSources: Literature","entity_name":"ICE1","entity_type":"gene"},{"created":"2020-01-21T13:23:10.611226+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.34","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PIK3R2 was added\ngene: PIK3R2 was added to Inherited Vascular Malformations. Sources: Expert list\nMode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PIK3R2 were set to 22729224; 28502725\nPhenotypes for gene: PIK3R2 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387\nReview for gene: PIK3R2 was set to RED\nAdded comment: This condition (MPPH) lacks vascular malformations as a feature of the phenotype. Two variants were identified in the blood of two postnatal cases suspected of having mosaic overgrowth syndromes, but clinical indication for testing was not provided. \nSources: Expert list","entity_name":"PIK3R2","entity_type":"gene"},{"created":"2020-01-21T12:54:03.953970+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.33","user_name":"Bryony Thompson","item_type":"entity","text":"Tag somatic tag was added to gene: PIK3R1.","entity_name":"PIK3R1","entity_type":"gene"},{"created":"2020-01-21T12:53:56.606816+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.33","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PIK3R1 was added\ngene: PIK3R1 was added to Inherited Vascular Malformations. Sources: Expert list\nMode of inheritance for gene: PIK3R1 was set to Other\nPublications for gene: PIK3R1 were set to 29174369\nPhenotypes for gene: PIK3R1 were set to capillary and lymphatic malformation\nReview for gene: PIK3R1 was set to RED\nAdded comment: A patient carrying a somatic PIK3R1 (p.K567E) variant demonstrated capillary malformation and lymphatic malformation, with mild, proportional overgrowth of one extremity. No other reports with vascular malformations/anomalies. Germline variants cause various conditions where vascular malformations are not a prominent feature. \nSources: Expert list","entity_name":"PIK3R1","entity_type":"gene"},{"created":"2020-01-21T12:46:02.250545+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.32","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PIK3CA as Green List (high evidence)","entity_name":"PIK3CA","entity_type":"gene"},{"created":"2020-01-21T12:46:02.244834+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.32","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Somatic activating mutaitons are the main cause of vascular malformations, but four individuals with germline variants have been reported.","entity_name":"PIK3CA","entity_type":"gene"},{"created":"2020-01-21T12:46:02.210177+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.32","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pik3ca has been classified as Green List (High Evidence).","entity_name":"PIK3CA","entity_type":"gene"},{"created":"2020-01-21T12:44:50.357225+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.31","user_name":"Bryony Thompson","item_type":"entity","text":"Tag somatic tag was added to gene: PIK3CA.","entity_name":"PIK3CA","entity_type":"gene"},{"created":"2020-01-21T12:44:37.763401+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.31","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: PIK3CA: 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: 22729224, 23246288; Phenotypes: Megalencephaly-capillary malformation (MCAP) syndrome, Cowden syndrome 5 615108; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"PIK3CA","entity_type":"gene"}]}