{"count":220771,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1993","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1991","results":[{"created":"2020-01-10T16:30:04.504342+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1537","user_name":"Sue White","item_type":"entity","text":"Gene: agmo has been classified as Green List (High Evidence).","entity_name":"AGMO","entity_type":"gene"},{"created":"2020-01-10T16:28:04.427920+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1537","user_name":"Sue White","item_type":"entity","text":"Classified gene: AGMO as Green List (high evidence)","entity_name":"AGMO","entity_type":"gene"},{"created":"2020-01-10T16:28:04.420853+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1537","user_name":"Sue White","item_type":"entity","text":"Gene: agmo has been classified as Green List (High Evidence).","entity_name":"AGMO","entity_type":"gene"},{"created":"2020-01-10T16:27:33.076523+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1536","user_name":"Sue White","item_type":"entity","text":"gene: AGMO was added\ngene: AGMO was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature\nMode of inheritance for gene: AGMO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGMO were set to 31555905\nPhenotypes for gene: AGMO were set to microcephaly; intellectual disability; epilepsy\nPenetrance for gene: AGMO were set to Complete\nReview for gene: AGMO was set to GREEN\nAdded comment: biallelic missense and LOF variants reported \nSources: Literature","entity_name":"AGMO","entity_type":"gene"},{"created":"2020-01-10T16:25:39.811720+11:00","panel_name":"Bleeding Disorders_VCGS","panel_id":54,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VWF as ready","entity_name":"VWF","entity_type":"gene"},{"created":"2020-01-10T16:25:39.804404+11:00","panel_name":"Bleeding Disorders_VCGS","panel_id":54,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vwf has been classified as Green List (High Evidence).","entity_name":"VWF","entity_type":"gene"},{"created":"2020-01-10T16:24:22.664620+11:00","panel_name":"Bleeding Disorders_VCGS","panel_id":54,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: VWF were changed from  to von Willebrand disease, type 1, MIM#193400; von Willebrand disease, types 2A, 2B, 2M, and 2N, MIM#613554; von Willibrand disease, type 3, MIM#277480","entity_name":"VWF","entity_type":"gene"},{"created":"2020-01-10T16:23:36.872994+11:00","panel_name":"Bleeding Disorders_VCGS","panel_id":54,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: VWF was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"VWF","entity_type":"gene"},{"created":"2020-01-10T16:22:30.596576+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.177","user_name":"Sue White","item_type":"entity","text":"Marked gene: MDH1 as ready","entity_name":"MDH1","entity_type":"gene"},{"created":"2020-01-10T16:22:30.589747+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.177","user_name":"Sue White","item_type":"entity","text":"Gene: mdh1 has been classified as Amber List (Moderate Evidence).","entity_name":"MDH1","entity_type":"gene"},{"created":"2020-01-10T16:22:23.501503+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.177","user_name":"Sue White","item_type":"entity","text":"Classified gene: MDH1 as Amber List (moderate evidence)","entity_name":"MDH1","entity_type":"gene"},{"created":"2020-01-10T16:22:23.494133+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.177","user_name":"Sue White","item_type":"entity","text":"Gene: mdh1 has been classified as Amber List (Moderate Evidence).","entity_name":"MDH1","entity_type":"gene"},{"created":"2020-01-10T16:21:49.268563+11:00","panel_name":"Genetic Epilepsy_AustralianGenomics_VCGS","panel_id":202,"panel_version":"0.176","user_name":"Sue White","item_type":"entity","text":"gene: MDH1 was added\ngene: MDH1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature\nMode of inheritance for gene: MDH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MDH1 were set to 31538237\nPhenotypes for gene: MDH1 were set to epilepsy; microcephaly; intellectual disability\nPenetrance for gene: MDH1 were set to Complete\nAdded comment: single consanguinous family with biallelic missense variant in this gene and epilepsy, microcephaly, ID \nSources: Literature","entity_name":"MDH1","entity_type":"gene"},{"created":"2020-01-10T16:15:29.940160+11:00","panel_name":"Arthrogryposis_VCGS","panel_id":47,"panel_version":"0.13","user_name":"Sue White","item_type":"entity","text":"Marked gene: ISLR2 as ready","entity_name":"ISLR2","entity_type":"gene"},{"created":"2020-01-10T16:15:29.933457+11:00","panel_name":"Arthrogryposis_VCGS","panel_id":47,"panel_version":"0.13","user_name":"Sue White","item_type":"entity","text":"Gene: islr2 has been classified as Amber List (Moderate Evidence).","entity_name":"ISLR2","entity_type":"gene"},{"created":"2020-01-10T16:15:24.495469+11:00","panel_name":"Arthrogryposis_VCGS","panel_id":47,"panel_version":"0.13","user_name":"Sue White","item_type":"entity","text":"Classified gene: ISLR2 as Amber List (moderate evidence)","entity_name":"ISLR2","entity_type":"gene"},{"created":"2020-01-10T16:15:24.488659+11:00","panel_name":"Arthrogryposis_VCGS","panel_id":47,"panel_version":"0.13","user_name":"Sue White","item_type":"entity","text":"Gene: islr2 has been classified as Amber List (Moderate Evidence).","entity_name":"ISLR2","entity_type":"gene"},{"created":"2020-01-10T16:14:41.166132+11:00","panel_name":"Arthrogryposis_VCGS","panel_id":47,"panel_version":"0.12","user_name":"Sue White","item_type":"entity","text":"gene: ISLR2 was added\ngene: ISLR2 was added to Arthrogryposis_VCGS. Sources: Literature\nMode of inheritance for gene: ISLR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ISLR2 were set to 30483960\nPhenotypes for gene: ISLR2 were set to hydrocephalus; arthrogryposis; abdominal distension\nPenetrance for gene: ISLR2 were set to Complete\nAdded comment: single consanguineous family with hydrocephalus and arthrogryposis and homozygous truncating variant, mouse model has hydrocephalus \nSources: Literature","entity_name":"ISLR2","entity_type":"gene"},{"created":"2020-01-10T15:58:15.829265+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.764","user_name":"Sue White","item_type":"entity","text":"Marked gene: NOTCH2NL as ready","entity_name":"NOTCH2NL","entity_type":"gene"},{"created":"2020-01-10T15:58:15.822953+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.764","user_name":"Sue White","item_type":"entity","text":"Gene: notch2nl has been classified as Green List (High Evidence).","entity_name":"NOTCH2NL","entity_type":"gene"},{"created":"2020-01-10T15:56:41.065310+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.764","user_name":"Sue White","item_type":"entity","text":"Classified gene: NOTCH2NL as Green List (high evidence)","entity_name":"NOTCH2NL","entity_type":"gene"},{"created":"2020-01-10T15:56:41.057868+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.764","user_name":"Sue White","item_type":"entity","text":"Gene: notch2nl has been classified as Green List (High Evidence).","entity_name":"NOTCH2NL","entity_type":"gene"},{"created":"2020-01-10T15:55:32.871010+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.763","user_name":"Sue White","item_type":"entity","text":"gene: NOTCH2NL was added\ngene: NOTCH2NL was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: NOTCH2NL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NOTCH2NL were set to 31332381\nPhenotypes for gene: NOTCH2NL were set to OMIM 603472 NEURONAL INTRANUCLEAR INCLUSION DISEASE; NIID\nPenetrance for gene: NOTCH2NL were set to unknown\nMode of pathogenicity for gene: NOTCH2NL was set to Other\nReview for gene: NOTCH2NL was set to GREEN\ngene: NOTCH2NL was marked as current diagnostic\nAdded comment: adult onset neurodegenerative condition caused by STR expansion 5' of NOTCH2NL \nSources: Literature","entity_name":"NOTCH2NL","entity_type":"gene"},{"created":"2020-01-10T15:50:50.782354+11:00","panel_name":"Regression_VCGS","panel_id":206,"panel_version":"0.59","user_name":"Sue White","item_type":"entity","text":"Marked gene: NOTCH2NL as ready","entity_name":"NOTCH2NL","entity_type":"gene"},{"created":"2020-01-10T15:50:50.775220+11:00","panel_name":"Regression_VCGS","panel_id":206,"panel_version":"0.59","user_name":"Sue White","item_type":"entity","text":"Gene: notch2nl has been classified as Green List (High Evidence).","entity_name":"NOTCH2NL","entity_type":"gene"},{"created":"2020-01-10T15:50:46.406675+11:00","panel_name":"Regression_VCGS","panel_id":206,"panel_version":"0.59","user_name":"Sue White","item_type":"entity","text":"Classified gene: NOTCH2NL as Green List (high evidence)","entity_name":"NOTCH2NL","entity_type":"gene"},{"created":"2020-01-10T15:50:46.399796+11:00","panel_name":"Regression_VCGS","panel_id":206,"panel_version":"0.59","user_name":"Sue White","item_type":"entity","text":"Gene: notch2nl has been classified as Green List (High Evidence).","entity_name":"NOTCH2NL","entity_type":"gene"},{"created":"2020-01-10T15:50:00.424691+11:00","panel_name":"Regression_VCGS","panel_id":206,"panel_version":"0.58","user_name":"Sue White","item_type":"entity","text":"gene: NOTCH2NL was added\ngene: NOTCH2NL was added to Regression_VCGS. Sources: Literature\nMode of inheritance for gene: NOTCH2NL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NOTCH2NL were set to 31332381\nPhenotypes for gene: NOTCH2NL were set to OMIM 603472 NEURONAL INTRANUCLEAR INCLUSION DISEASE; NIID\nPenetrance for gene: NOTCH2NL were set to Incomplete\nMode of pathogenicity for gene: NOTCH2NL was set to Other\nReview for gene: NOTCH2NL was set to GREEN\nAdded comment: adult onset neurodegenerative condition caused by STR expansion 5' of NOTCH2NL \nSources: Literature","entity_name":"NOTCH2NL","entity_type":"gene"},{"created":"2020-01-10T15:37:44.626378+11:00","panel_name":"Bleeding Disorders_VCGS","panel_id":54,"panel_version":"0.0","user_name":"Chern Lim","item_type":"entity","text":"changed review comment from: Loss of function variants have been reported in both dominant and recessive form of disease (PMID:12588351 , PMID:16643449). VWD type 3 (AR) usually carries null alleles, VWD type 1 (AD) is usually due to partial deficiency (PMID:19372260). \r\nDominant negative have been reported for missense variant (PMID:11698279).; to: Loss of function variants have been reported in both dominant and recessive forms of disease (PMID:12588351 , PMID:16643449). VWD type 3 (AR) usually associated with null alleles, VWD type 1 (AD) is usually due to partial deficiency (PMID:19372260). \r\nDominant negative have been reported for missense variant (PMID:11698279).","entity_name":"VWF","entity_type":"gene"},{"created":"2020-01-10T15:37:09.659632+11:00","panel_name":"Bleeding Disorders_VCGS","panel_id":54,"panel_version":"0.0","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: VWF: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: von Willebrand disease, type 1, MIM#193400, von Willebrand disease, types 2A, 2B, 2M, and 2N, MIM#613554, von Willibrand disease, type 3, MIM#277480; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"VWF","entity_type":"gene"},{"created":"2020-01-10T15:06:09.351864+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.762","user_name":"Sue White","item_type":"entity","text":"Marked gene: RFC1 as ready","entity_name":"RFC1","entity_type":"gene"},{"created":"2020-01-10T15:06:09.344758+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.762","user_name":"Sue White","item_type":"entity","text":"Gene: rfc1 has been classified as Green List (High Evidence).","entity_name":"RFC1","entity_type":"gene"},{"created":"2020-01-10T15:05:48.719850+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.762","user_name":"Sue White","item_type":"entity","text":"Classified gene: RFC1 as Green List (high evidence)","entity_name":"RFC1","entity_type":"gene"},{"created":"2020-01-10T15:05:48.713058+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.762","user_name":"Sue White","item_type":"entity","text":"Gene: rfc1 has been classified as Green List (High Evidence).","entity_name":"RFC1","entity_type":"gene"},{"created":"2020-01-10T15:04:50.820634+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.761","user_name":"Sue White","item_type":"entity","text":"gene: RFC1 was added\ngene: RFC1 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: RFC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RFC1 were set to 30926972\nPhenotypes for gene: RFC1 were set to Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome\tOMIM 614575\nPenetrance for gene: RFC1 were set to unknown\nMode of pathogenicity for gene: RFC1 was set to Other\nReview for gene: RFC1 was set to GREEN\nAdded comment: adult onset ataxia due to biallelic intronic STR expansion \nSources: Literature","entity_name":"RFC1","entity_type":"gene"},{"created":"2020-01-10T15:01:40.704188+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.760","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AVPR2 were changed from  to Diabetes insipidus, nephrogenic 304800; Nephrogenic syndrome of inappropriate antidiuresis 300539","entity_name":"AVPR2","entity_type":"gene"},{"created":"2020-01-10T14:59:07.226524+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.759","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AVPR2 were set to ","entity_name":"AVPR2","entity_type":"gene"},{"created":"2020-01-10T14:58:53.364463+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.758","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AVPR2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"AVPR2","entity_type":"gene"},{"created":"2020-01-10T14:57:31.388372+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.757","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRAC as ready","entity_name":"TRAC","entity_type":"gene"},{"created":"2020-01-10T14:57:31.379544+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.757","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trac has been classified as Green List (High Evidence).","entity_name":"TRAC","entity_type":"gene"},{"created":"2020-01-10T14:57:14.669844+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.757","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRAC as Green List (high evidence)","entity_name":"TRAC","entity_type":"gene"},{"created":"2020-01-10T14:57:14.662472+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.757","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trac has been classified as Green List (High Evidence).","entity_name":"TRAC","entity_type":"gene"},{"created":"2020-01-10T14:56:55.790619+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.756","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TRAC was added\ngene: TRAC was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: TRAC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAC were set to 21206088\nPhenotypes for gene: TRAC were set to Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387\nReview for gene: TRAC was set to GREEN\nAdded comment: Sources: Expert list","entity_name":"TRAC","entity_type":"gene"},{"created":"2020-01-10T14:53:48.705291+11:00","panel_name":"Combined immunodeficiency_MelbourneGenomics_VCGS","panel_id":223,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRAC as ready","entity_name":"TRAC","entity_type":"gene"},{"created":"2020-01-10T14:53:48.698700+11:00","panel_name":"Combined immunodeficiency_MelbourneGenomics_VCGS","panel_id":223,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trac has been classified as Green List (High Evidence).","entity_name":"TRAC","entity_type":"gene"},{"created":"2020-01-10T14:53:44.981316+11:00","panel_name":"Combined immunodeficiency_MelbourneGenomics_VCGS","panel_id":223,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRAC as Green List (high evidence)","entity_name":"TRAC","entity_type":"gene"},{"created":"2020-01-10T14:53:44.973346+11:00","panel_name":"Combined immunodeficiency_MelbourneGenomics_VCGS","panel_id":223,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trac has been classified as Green List (High Evidence).","entity_name":"TRAC","entity_type":"gene"},{"created":"2020-01-10T14:53:14.686302+11:00","panel_name":"Combined immunodeficiency_MelbourneGenomics_VCGS","panel_id":223,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TRAC was added\ngene: TRAC was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: TRAC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAC were set to 21206088\nPhenotypes for gene: TRAC were set to Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387\nReview for gene: TRAC was set to GREEN\nAdded comment: Sources: Expert list","entity_name":"TRAC","entity_type":"gene"},{"created":"2020-01-10T14:49:07.957074+11:00","panel_name":"Predominantly antibody deficiency_MelbourneGenomics_VCGS","panel_id":222,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SKIV2L as ready","entity_name":"SKIV2L","entity_type":"gene"},{"created":"2020-01-10T14:49:07.950262+11:00","panel_name":"Predominantly antibody deficiency_MelbourneGenomics_VCGS","panel_id":222,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: skiv2l has been classified as Green List (High Evidence).","entity_name":"SKIV2L","entity_type":"gene"},{"created":"2020-01-10T14:48:27.663061+11:00","panel_name":"Predominantly antibody deficiency_MelbourneGenomics_VCGS","panel_id":222,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SKIV2L as Green List (high evidence)","entity_name":"SKIV2L","entity_type":"gene"},{"created":"2020-01-10T14:48:27.656301+11:00","panel_name":"Predominantly antibody deficiency_MelbourneGenomics_VCGS","panel_id":222,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: skiv2l has been classified as Green List (High Evidence).","entity_name":"SKIV2L","entity_type":"gene"},{"created":"2020-01-10T14:47:50.602524+11:00","panel_name":"Predominantly antibody deficiency_MelbourneGenomics_VCGS","panel_id":222,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SKIV2L was added\ngene: SKIV2L was added to Predominantly antibody deficiency_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SKIV2L were set to 22444670\nPhenotypes for gene: SKIV2L were set to Trichohepatoenteric syndrome 2, MIM#614602\nReview for gene: SKIV2L was set to GREEN\nAdded comment: Immunodeficiency is part of the phenotype. \nSources: Expert list","entity_name":"SKIV2L","entity_type":"gene"},{"created":"2020-01-10T14:44:25.233149+11:00","panel_name":"Bone Marrow Failure_VCGS","panel_id":56,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SAMD9 as ready","entity_name":"SAMD9","entity_type":"gene"},{"created":"2020-01-10T14:44:25.225842+11:00","panel_name":"Bone Marrow Failure_VCGS","panel_id":56,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: samd9 has been classified as Green List (High Evidence).","entity_name":"SAMD9","entity_type":"gene"},{"created":"2020-01-10T14:44:19.003147+11:00","panel_name":"Bone Marrow Failure_VCGS","panel_id":56,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SAMD9 as Green List (high evidence)","entity_name":"SAMD9","entity_type":"gene"},{"created":"2020-01-10T14:44:18.994647+11:00","panel_name":"Bone Marrow Failure_VCGS","panel_id":56,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: samd9 has been classified as Green List (High Evidence).","entity_name":"SAMD9","entity_type":"gene"},{"created":"2020-01-10T14:43:36.519690+11:00","panel_name":"Bone Marrow Failure_VCGS","panel_id":56,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SAMD9 as Green List (high evidence)","entity_name":"SAMD9","entity_type":"gene"},{"created":"2020-01-10T14:43:36.510025+11:00","panel_name":"Bone Marrow Failure_VCGS","panel_id":56,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: samd9 has been classified as Green List (High Evidence).","entity_name":"SAMD9","entity_type":"gene"},{"created":"2020-01-10T14:42:52.155463+11:00","panel_name":"Bone Marrow Failure_VCGS","panel_id":56,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SAMD9 was added\ngene: SAMD9 was added to Bone Marrow Failure_VCGS. Sources: Expert list\nMode of inheritance for gene: SAMD9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SAMD9 were set to 27182967\nPhenotypes for gene: SAMD9 were set to MIRAGE syndrome, MIM#617053\nReview for gene: SAMD9 was set to GREEN\nAdded comment: Four molecularly confirmed individuals from three families. Anaemia, thrombocytopaenia, leukopaenia and recurrent infections. \nSources: Expert list","entity_name":"SAMD9","entity_type":"gene"},{"created":"2020-01-10T14:37:45.706092+11:00","panel_name":"Combined immunodeficiency_MelbourneGenomics_VCGS","panel_id":223,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PMS2 as ready","entity_name":"PMS2","entity_type":"gene"},{"created":"2020-01-10T14:37:45.699215+11:00","panel_name":"Combined immunodeficiency_MelbourneGenomics_VCGS","panel_id":223,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pms2 has been classified as Green List (High Evidence).","entity_name":"PMS2","entity_type":"gene"},{"created":"2020-01-10T14:37:38.377830+11:00","panel_name":"Combined immunodeficiency_MelbourneGenomics_VCGS","panel_id":223,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PMS2 as Green List (high evidence)","entity_name":"PMS2","entity_type":"gene"},{"created":"2020-01-10T14:37:38.371258+11:00","panel_name":"Combined immunodeficiency_MelbourneGenomics_VCGS","panel_id":223,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pms2 has been classified as Green List (High Evidence).","entity_name":"PMS2","entity_type":"gene"},{"created":"2020-01-10T14:35:18.549508+11:00","panel_name":"Combined immunodeficiency_MelbourneGenomics_VCGS","panel_id":223,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PMS2 was added\ngene: PMS2 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: PMS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PMS2 were set to Mismatch repair cancer syndrome, MIM# 276300\nReview for gene: PMS2 was set to GREEN\nAdded comment: Sources: Expert list","entity_name":"PMS2","entity_type":"gene"},{"created":"2020-01-10T14:33:05.658336+11:00","panel_name":"Disorders of immune dysregulation_MelbourneGenomics_VCGS","panel_id":229,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEPD as ready","entity_name":"PEPD","entity_type":"gene"},{"created":"2020-01-10T14:33:05.651930+11:00","panel_name":"Disorders of immune dysregulation_MelbourneGenomics_VCGS","panel_id":229,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pepd has been classified as Green List (High Evidence).","entity_name":"PEPD","entity_type":"gene"},{"created":"2020-01-10T14:33:00.499363+11:00","panel_name":"Disorders of immune dysregulation_MelbourneGenomics_VCGS","panel_id":229,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PEPD as Green List (high evidence)","entity_name":"PEPD","entity_type":"gene"},{"created":"2020-01-10T14:33:00.491594+11:00","panel_name":"Disorders of immune dysregulation_MelbourneGenomics_VCGS","panel_id":229,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pepd has been classified as Green List (High Evidence).","entity_name":"PEPD","entity_type":"gene"},{"created":"2020-01-10T14:32:30.558580+11:00","panel_name":"Disorders of immune dysregulation_MelbourneGenomics_VCGS","panel_id":229,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PEPD was added\ngene: PEPD was added to Disorders of immune dysregulation_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEPD were set to Prolidase deficiency, MIM#170100\nReview for gene: PEPD was set to GREEN\nAdded comment: Recurrent infections, SLE. \nSources: Expert list","entity_name":"PEPD","entity_type":"gene"},{"created":"2020-01-10T14:30:15.062067+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.755","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NSMCE3 as ready","entity_name":"NSMCE3","entity_type":"gene"},{"created":"2020-01-10T14:30:15.023426+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.755","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nsmce3 has been classified as Amber List (Moderate Evidence).","entity_name":"NSMCE3","entity_type":"gene"},{"created":"2020-01-10T14:30:04.442513+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.755","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NSMCE3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NSMCE3","entity_type":"gene"},{"created":"2020-01-10T14:29:47.139452+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.754","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NSMCE3 were changed from  to Lung disease, immunodeficiency, and chromosome breakage syndrome, MIM#617241","entity_name":"NSMCE3","entity_type":"gene"},{"created":"2020-01-10T14:29:33.993763+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.753","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NSMCE3 were set to ","entity_name":"NSMCE3","entity_type":"gene"},{"created":"2020-01-10T14:29:19.330161+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.752","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NSMCE3 as Amber List (moderate evidence)","entity_name":"NSMCE3","entity_type":"gene"},{"created":"2020-01-10T14:29:19.322968+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.752","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nsmce3 has been classified as Amber List (Moderate Evidence).","entity_name":"NSMCE3","entity_type":"gene"},{"created":"2020-01-10T14:28:59.038756+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.751","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NSMCE3: Rating: AMBER; Mode of pathogenicity: None; Publications: 27427983; Phenotypes: Lung disease, immunodeficiency, and chromosome breakage syndrome, MIM#617241; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NSMCE3","entity_type":"gene"},{"created":"2020-01-10T14:26:56.241284+11:00","panel_name":"Combined immunodeficiency_MelbourneGenomics_VCGS","panel_id":223,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NSMCE3 as ready","entity_name":"NSMCE3","entity_type":"gene"},{"created":"2020-01-10T14:26:56.234393+11:00","panel_name":"Combined immunodeficiency_MelbourneGenomics_VCGS","panel_id":223,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nsmce3 has been classified as Amber List (Moderate Evidence).","entity_name":"NSMCE3","entity_type":"gene"},{"created":"2020-01-10T14:26:42.309787+11:00","panel_name":"Combined immunodeficiency_MelbourneGenomics_VCGS","panel_id":223,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NSMCE3 as Amber List (moderate evidence)","entity_name":"NSMCE3","entity_type":"gene"},{"created":"2020-01-10T14:26:42.302152+11:00","panel_name":"Combined immunodeficiency_MelbourneGenomics_VCGS","panel_id":223,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nsmce3 has been classified as Amber List (Moderate Evidence).","entity_name":"NSMCE3","entity_type":"gene"},{"created":"2020-01-10T14:26:10.794199+11:00","panel_name":"Combined immunodeficiency_MelbourneGenomics_VCGS","panel_id":223,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NSMCE3 was added\ngene: NSMCE3 was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: NSMCE3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NSMCE3 were set to 27427983\nPhenotypes for gene: NSMCE3 were set to Lung disease, immunodeficiency, and chromosome breakage syndrome, MIM#617241\nReview for gene: NSMCE3 was set to AMBER\nAdded comment: Two unrelated families, some functional data. \nSources: Expert list","entity_name":"NSMCE3","entity_type":"gene"},{"created":"2020-01-10T14:23:37.137979+11:00","panel_name":"Combined immunodeficiency_MelbourneGenomics_VCGS","panel_id":223,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NBN as ready","entity_name":"NBN","entity_type":"gene"},{"created":"2020-01-10T14:23:37.131027+11:00","panel_name":"Combined immunodeficiency_MelbourneGenomics_VCGS","panel_id":223,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nbn has been classified as Green List (High Evidence).","entity_name":"NBN","entity_type":"gene"},{"created":"2020-01-10T14:23:24.522718+11:00","panel_name":"Combined immunodeficiency_MelbourneGenomics_VCGS","panel_id":223,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NBN as Green List (high evidence)","entity_name":"NBN","entity_type":"gene"},{"created":"2020-01-10T14:23:24.515545+11:00","panel_name":"Combined immunodeficiency_MelbourneGenomics_VCGS","panel_id":223,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nbn has been classified as Green List (High Evidence).","entity_name":"NBN","entity_type":"gene"},{"created":"2020-01-10T14:22:54.954678+11:00","panel_name":"Combined immunodeficiency_MelbourneGenomics_VCGS","panel_id":223,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NBN was added\ngene: NBN was added to Combined immunodeficiency_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NBN were set to Nijmegen breakage syndrome, MIM#251260\nReview for gene: NBN was set to GREEN\nAdded comment: Immunodeficiency is a recognised feature. \nSources: Expert list","entity_name":"NBN","entity_type":"gene"},{"created":"2020-01-10T14:02:06.181712+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.751","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYSM1 as ready","entity_name":"MYSM1","entity_type":"gene"},{"created":"2020-01-10T14:02:06.174475+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.751","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mysm1 has been classified as Green List (High Evidence).","entity_name":"MYSM1","entity_type":"gene"},{"created":"2020-01-10T14:01:55.214415+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.751","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYSM1 as Green List (high evidence)","entity_name":"MYSM1","entity_type":"gene"},{"created":"2020-01-10T14:01:55.207634+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.751","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mysm1 has been classified as Green List (High Evidence).","entity_name":"MYSM1","entity_type":"gene"},{"created":"2020-01-10T14:01:35.830666+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.750","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYSM1 was added\ngene: MYSM1 was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: MYSM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYSM1 were set to 4288411; 28115216; 26220525\nPhenotypes for gene: MYSM1 were set to Bone marrow failure syndrome 4, MIM#618116\nReview for gene: MYSM1 was set to GREEN\nAdded comment: early-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay \nSources: Expert list","entity_name":"MYSM1","entity_type":"gene"},{"created":"2020-01-10T13:59:23.378793+11:00","panel_name":"Bone Marrow Failure_VCGS","panel_id":56,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYSM1 as ready","entity_name":"MYSM1","entity_type":"gene"},{"created":"2020-01-10T13:59:23.372227+11:00","panel_name":"Bone Marrow Failure_VCGS","panel_id":56,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mysm1 has been classified as Green List (High Evidence).","entity_name":"MYSM1","entity_type":"gene"},{"created":"2020-01-10T13:58:52.313830+11:00","panel_name":"Bone Marrow Failure_VCGS","panel_id":56,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYSM1 as Green List (high evidence)","entity_name":"MYSM1","entity_type":"gene"},{"created":"2020-01-10T13:58:52.307108+11:00","panel_name":"Bone Marrow Failure_VCGS","panel_id":56,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mysm1 has been classified as Green List (High Evidence).","entity_name":"MYSM1","entity_type":"gene"},{"created":"2020-01-10T13:58:22.971068+11:00","panel_name":"Bone Marrow Failure_VCGS","panel_id":56,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYSM1 was added\ngene: MYSM1 was added to Bone Marrow Failure_VCGS. Sources: Expert list\nMode of inheritance for gene: MYSM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYSM1 were set to 24288411; 28115216; 26220525\nPhenotypes for gene: MYSM1 were set to Bone marrow failure syndrome 4, MIM#618116\nReview for gene: MYSM1 was set to GREEN\nAdded comment: early-onset anaemia, leukopaenia, and decreased B cells, may have thrombocytopaenia or variable additional non-haematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay \nSources: Expert list","entity_name":"MYSM1","entity_type":"gene"},{"created":"2020-01-10T13:56:24.904432+11:00","panel_name":"Combined immunodeficiency_MelbourneGenomics_VCGS","panel_id":223,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYSM1 as Green List (high evidence)","entity_name":"MYSM1","entity_type":"gene"},{"created":"2020-01-10T13:56:24.028603+11:00","panel_name":"Combined immunodeficiency_MelbourneGenomics_VCGS","panel_id":223,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mysm1 has been classified as Green List (High Evidence).","entity_name":"MYSM1","entity_type":"gene"}]}