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{
"count": 220759,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1993",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1991",
"results": [
{
"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"
},
{
"created": "2020-01-10T13:55:47.810982+11:00",
"panel_name": "Combined immunodeficiency_MelbourneGenomics_VCGS",
"panel_id": 223,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYSM1 was added\ngene: MYSM1 was added to Combined immunodeficiency_MelbourneGenomics_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": "2020-01-10T13:44:07.203706+11:00",
"panel_name": "Susceptibility to viral infections_MelbourneGenomics_VCGS",
"panel_id": 237,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MSN as ready",
"entity_name": "MSN",
"entity_type": "gene"
},
{
"created": "2020-01-10T13:44:07.196488+11:00",
"panel_name": "Susceptibility to viral infections_MelbourneGenomics_VCGS",
"panel_id": 237,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: msn has been classified as Green List (High Evidence).",
"entity_name": "MSN",
"entity_type": "gene"
},
{
"created": "2020-01-10T13:43:44.508045+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.749",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: AVPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 9127330, PubMed: 15872203; Phenotypes: Diabetes insipidus, nephrogenic 304800, Nephrogenic syndrome of inappropriate antidiuresis 300539; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "AVPR2",
"entity_type": "gene"
},
{
"created": "2020-01-10T13:43:37.519260+11:00",
"panel_name": "Susceptibility to viral infections_MelbourneGenomics_VCGS",
"panel_id": 237,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MSN as Green List (high evidence)",
"entity_name": "MSN",
"entity_type": "gene"
},
{
"created": "2020-01-10T13:43:37.512342+11:00",
"panel_name": "Susceptibility to viral infections_MelbourneGenomics_VCGS",
"panel_id": 237,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: msn has been classified as Green List (High Evidence).",
"entity_name": "MSN",
"entity_type": "gene"
},
{
"created": "2020-01-10T13:41:34.029698+11:00",
"panel_name": "Susceptibility to viral infections_MelbourneGenomics_VCGS",
"panel_id": 237,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MSN was added\ngene: MSN was added to Susceptibility to viral infections_MelbourneGenomics_VCGS. Sources: Expert list\nMode of inheritance for gene: MSN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: MSN were set to 27405666\nPhenotypes for gene: MSN were set to Immunodeficiency 50, MIM#\t300988\nReview for gene: MSN was set to GREEN\nAdded comment: Seven males from five unrelated families reported. \nSources: Expert list",
"entity_name": "MSN",
"entity_type": "gene"
},
{
"created": "2020-01-10T12:34:21.502749+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SALL2 as ready",
"entity_name": "SALL2",
"entity_type": "gene"
},
{
"created": "2020-01-10T12:34:21.495518+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sall2 has been classified as Red List (Low Evidence).",
"entity_name": "SALL2",
"entity_type": "gene"
},
{
"created": "2020-01-10T12:34:13.458461+11:00",
"panel_name": "Anophthalmia, microphthalmia, coloboma_VCGS",
"panel_id": 42,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SALL2 was added\ngene: SALL2 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Other\nMode of inheritance for gene: SALL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SALL2 were set to 24412933\nPhenotypes for gene: SALL2 were set to Coloboma, ocular, autosomal recessive, MIM#16820\nReview for gene: SALL2 was set to RED\nAdded comment: Single family reported, supportive functional data. \nSources: Other",
"entity_name": "SALL2",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:56:10.872272+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STAG2 as ready",
"entity_name": "STAG2",
"entity_type": "gene"
},
{
"created": "2020-01-10T10:56:10.865298+11:00",
"panel_name": "Mendeliome_VCGS",
"panel_id": 137,
"panel_version": "0.749",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stag2 has been classified as Green List (High Evidence).",
"entity_name": "STAG2",
"entity_type": "gene"
}
]
}