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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1810",
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"results": [
{
"created": "2020-05-04T20:16:40.949013+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2719",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acvr2b has been classified as Red List (Low Evidence).",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2020-05-04T20:16:31.226917+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2719",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACVR2B were changed from to Heterotaxy, visceral, 4, autosomal 613751",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2020-05-04T20:16:12.767151+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACVR2B were set to ",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2020-05-04T20:15:35.504395+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2718",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACVR2B were set to ",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2020-05-04T20:15:11.719702+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2717",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACVR2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2020-05-04T20:14:45.933463+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2716",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACVR2B as Red List (low evidence)",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2020-05-04T20:14:45.925055+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2716",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acvr2b has been classified as Red List (Low Evidence).",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2020-05-04T20:14:24.696442+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2715",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACVR2B: Rating: RED; Mode of pathogenicity: None; Publications: 9916847, 30622330, 21864452; Phenotypes: Heterotaxy, visceral, 4, autosomal 613751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2020-05-04T20:13:11.741675+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACVR2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2020-05-04T20:12:48.817176+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACVR2B as Red List (low evidence)",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2020-05-04T20:12:48.806048+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acvr2b has been classified as Red List (Low Evidence).",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2020-05-04T20:12:13.763349+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACVR2B: Rating: RED; Mode of pathogenicity: None; Publications: 9916847, 30622330, 21864452; Phenotypes: Heterotaxy, visceral, 4, autosomal 613751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2020-05-04T20:05:39.661812+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACVR2B were changed from to Heterotaxy, visceral, 4, autosomal 613751",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2020-05-04T20:05:15.717140+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACVR2B were set to 9916847; 30622330; 21864452",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2020-05-04T20:04:56.839151+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: ACVR2B.",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2020-05-04T20:04:54.620081+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACVR2B were set to ",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2020-05-04T20:04:07.348224+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACVR2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2020-05-04T20:02:34.734601+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACVR2B as Red List (low evidence)",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2020-05-04T20:02:34.721268+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acvr2b has been classified as Red List (Low Evidence).",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2020-05-04T20:01:06.730696+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR81 as ready",
"entity_name": "WDR81",
"entity_type": "gene"
},
{
"created": "2020-05-04T20:01:06.720894+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr81 has been classified as Red List (Low Evidence).",
"entity_name": "WDR81",
"entity_type": "gene"
},
{
"created": "2020-05-04T20:01:03.071788+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WDR81 as Red List (low evidence)",
"entity_name": "WDR81",
"entity_type": "gene"
},
{
"created": "2020-05-04T20:01:03.059622+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr81 has been classified as Red List (Low Evidence).",
"entity_name": "WDR81",
"entity_type": "gene"
},
{
"created": "2020-05-04T20:00:04.917960+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR81 as ready",
"entity_name": "WDR81",
"entity_type": "gene"
},
{
"created": "2020-05-04T20:00:04.908719+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr81 has been classified as Red List (Low Evidence).",
"entity_name": "WDR81",
"entity_type": "gene"
},
{
"created": "2020-05-04T20:00:01.000321+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR81 were changed from to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 610185; Hydrocephalus, congenital, 3, with brain anomalies 617967",
"entity_name": "WDR81",
"entity_type": "gene"
},
{
"created": "2020-05-04T19:59:32.884643+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDR81 were set to ",
"entity_name": "WDR81",
"entity_type": "gene"
},
{
"created": "2020-05-04T19:59:04.722781+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDR81 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR81",
"entity_type": "gene"
},
{
"created": "2020-05-04T19:58:21.971847+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WDR81 as Red List (low evidence)",
"entity_name": "WDR81",
"entity_type": "gene"
},
{
"created": "2020-05-04T19:58:21.962862+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr81 has been classified as Red List (Low Evidence).",
"entity_name": "WDR81",
"entity_type": "gene"
},
{
"created": "2020-05-04T19:57:52.193352+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WDR81: Rating: RED; Mode of pathogenicity: None; Publications: 28556411, 21885617; Phenotypes: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 610185, Hydrocephalus, congenital, 3, with brain anomalies 617967; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR81",
"entity_type": "gene"
},
{
"created": "2020-05-04T16:19:44.800562+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.78",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: SEC63: Rating: AMBER; Mode of pathogenicity: None; Publications: 15133510, 19876928; Phenotypes: Polycystic liver disease 2 (MIM#617004); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SEC63",
"entity_type": "gene"
},
{
"created": "2020-05-04T16:09:47.476097+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.78",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: CEP55: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 28264986, 28295209, 32100459; Phenotypes: Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 236500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2020-05-04T15:58:13.552716+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.78",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2020-05-04T15:57:53.898402+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.78",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: CEP55: Rating: ; Mode of pathogenicity: None; Publications: PMID: 28264986; Phenotypes: Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 236500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP55",
"entity_type": "gene"
},
{
"created": "2020-05-04T15:44:07.699942+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.78",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "changed review comment from: 2 families reported with function studies showing absent or abnormal primary cillia formation. \r\n\r\nPMID: 26365339; Reported 2 consang fam (1 splice and 1 missense) with Complex Lethal Osteochondrodysplasia. Functional studies showed abnormal ciliogenesis. Tapt1b deficient zebrafish showed decreased cilial length; to: 2 families reported with function studies showing absent or abnormal primary cillia formation. Amber/Green pending additional reports\r\n\r\nPMID: 26365339; Reported 2 consang fam (1 splice and 1 missense) with Complex Lethal Osteochondrodysplasia. Functional studies showed abnormal ciliogenesis. Tapt1b deficient zebrafish showed decreased cilial length",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T15:38:19.161406+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.78",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26365339; Phenotypes: Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T15:36:37.062739+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.78",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: CCDC28B: Rating: AMBER; Mode of pathogenicity: Other; Publications: PMID: 32139166; Phenotypes: {Bardet-Biedl syndrome 1, modifier of} 209900, Joubert syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC28B",
"entity_type": "gene"
},
{
"created": "2020-05-04T15:28:31.344170+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.40",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: C21orf59: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24094744, 26904945; Phenotypes: Ciliary dyskinesia, primary, 26 615500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C21orf59",
"entity_type": "gene"
},
{
"created": "2020-05-04T15:18:03.385509+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.78",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: VPS13B was added\ngene: VPS13B was added to Ciliopathies. Sources: Expert Review\nMode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS13B were set to Cohen syndrome (MIM#\t216550)\nReview for gene: VPS13B was set to AMBER\nAdded comment: Well reported to cause Cohen syndrome, however, protein forms part of the golgi apparatus and plays an important role in glycosylation. Unsure if ciliopathy? \r\n\r\nPanelApp UK: Was confirmed with the Clinical Team that this gene should be green on this panel. \nSources: Expert Review",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2020-05-04T15:09:28.530434+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.40",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: C11orf70 was added\ngene: C11orf70 was added to Ciliary Dyskinesia. Sources: Expert list\nMode of inheritance for gene: C11orf70 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C11orf70 were set to PMID: 29727693; 29727692\nPhenotypes for gene: C11orf70 were set to Ciliary dyskinesia, primary, 38\t618063\nReview for gene: C11orf70 was set to GREEN\nAdded comment: aka CFAP300 \r\n\r\nOMIM: CFAP300 is an evolutionarily conserved protein essential for assembly of dynein arms.\r\n\r\nPMID: 29727692 - 2 unrelated families, one with a homozygous missense, the other chet for two PTCs. Patients have immotile respiratory cilia. Paramecium knockouts have lost cilia and swimming velocity,\r\n\r\nPMID: 29727693 - 5 families with biallelic PTCs. Patients had increased respiratory infections and 1 situs invertus \nSources: Expert list",
"entity_name": "C11orf70",
"entity_type": "gene"
},
{
"created": "2020-05-04T14:41:04.817349+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.78",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: ARMC9 was added\ngene: ARMC9 was added to Ciliopathies. Sources: Expert list\nMode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARMC9 were set to PMID: 28625504\nPhenotypes for gene: ARMC9 were set to Joubert syndrome 30\t617622\tAR\nReview for gene: ARMC9 was set to GREEN\nAdded comment: OMIM: ARMC9 localizes to the ciliary basal body and daughter centriole and is predicted to function in ciliogenesis\r\n\r\nPMID: 28625504 - 8 families with Joubert syndrome, all variant types detected. Functional studies show protein localizes at the basal body and upregulates during ciliogenesis. Zebrafish with frameshift mutation recapitulated the human phenotype including a curved body, coloboma, retinal dystrophy and less cilia. \nSources: Expert list",
"entity_name": "ARMC9",
"entity_type": "gene"
},
{
"created": "2020-05-04T14:25:16.594323+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.21",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ARMC8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ARMC8",
"entity_type": "gene"
},
{
"created": "2020-05-04T14:25:12.530027+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2715",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ARMC8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ARMC8",
"entity_type": "gene"
},
{
"created": "2020-05-04T14:25:08.297093+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.39",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ARMC8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ARMC8",
"entity_type": "gene"
},
{
"created": "2020-05-04T14:24:38.329014+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.78",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ARMC8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ARMC8",
"entity_type": "gene"
},
{
"created": "2020-05-04T14:10:59.498038+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.40",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ARMC4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31765523; Phenotypes: Ciliary dyskinesia, primary, 23 615451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARMC4",
"entity_type": "gene"
},
{
"created": "2020-05-04T14:04:30.837742+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.78",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: ZSWIM6 was added\ngene: ZSWIM6 was added to Ciliopathies. Sources: Expert Review\nMode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ZSWIM6 were set to 25105228; 28213462; 29198722\nPhenotypes for gene: ZSWIM6 were set to Acromelic frontonasal dysostosis (MIM#603671)\nMode of pathogenicity for gene: ZSWIM6 was set to Other\nReview for gene: ZSWIM6 was set to AMBER\nAdded comment: Minimal reports to date. Acromelic frontonasal dysostosis considered as likely ciliopathy in one paper. \r\n\r\nPMID: 25105228: 4 pts with AFND (Arg1163Trp)\r\n\r\nPMID: 28213462; AFND caused by this gene was classified as \"Likely ciliopathy\" \r\n\r\nPMID: 29198722; Reported 7 unrelated individuals with a recurrent truncating variant. This patients were \"Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features\". No functional studies performed but postulated to be dominant-negative.\r\n\r\nRated green in PanelApp UK - Rare multisystem ciliopathy disorders list \nSources: Expert Review",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2020-05-04T13:59:06.820684+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2715",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ACVR2B: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 9916847, 30622330, 21864452; Phenotypes: Heterotaxy, visceral, 4, autosomal 613751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2020-05-04T13:55:55.308556+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.78",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ACVR2B: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 9916847, 30622330, 21864452; Phenotypes: Heterotaxy, visceral, 4, autosomal 613751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2020-05-04T13:29:07.875117+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.78",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: WDR81 was added\ngene: WDR81 was added to Ciliopathies. Sources: Expert list\nMode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR81 were set to PMID: 28556411; 21885617\nPhenotypes for gene: WDR81 were set to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2\t610185; Hydrocephalus, congenital, 3, with brain anomalies\t617967\nReview for gene: WDR81 was set to RED\nAdded comment: No mention of ciliary involvement in OMIM\r\n\r\nPMID: 28556411 - 2 families with congenital hydrocephalus, families were homozygous for a PTC and missense\r\n\r\nPMID: 21885617 - 1 super giant family with a homozygous missense. Authors describe the protein as transmembrane protein where the WD repeats support of beta propeller component. Mouse model also described, no mention of a Joubert-type phenotype \nSources: Expert list",
"entity_name": "WDR81",
"entity_type": "gene"
},
{
"created": "2020-05-04T13:08:55.808007+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCAPER as Green List (high evidence)",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2020-05-04T13:08:55.788627+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scaper has been classified as Green List (High Evidence).",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2020-05-04T13:08:16.533550+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCAPER as ready",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2020-05-04T13:08:16.523150+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scaper has been classified as Green List (High Evidence).",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2020-05-04T13:08:14.828834+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCAPER as Green List (high evidence)",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2020-05-04T13:08:14.806069+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scaper has been classified as Green List (High Evidence).",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2020-05-04T13:07:13.010395+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCAPER as Green List (high evidence)",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2020-05-04T13:07:12.984573+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scaper has been classified as Green List (High Evidence).",
"entity_name": "SCAPER",
"entity_type": "gene"
},
{
"created": "2020-05-04T13:06:31.436188+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:NID1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-05-04T13:06:09.614096+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:VLDLR from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-05-04T13:05:48.804818+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:WNT1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-05-04T13:05:27.273049+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:ZIC1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-05-04T13:04:34.310486+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2715",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NID1 as ready",
"entity_name": "NID1",
"entity_type": "gene"
},
{
"created": "2020-05-04T13:04:34.301325+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2715",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nid1 has been classified as Green List (High Evidence).",
"entity_name": "NID1",
"entity_type": "gene"
},
{
"created": "2020-05-04T13:04:27.481883+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2715",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NID1 were changed from to Dandy-Walker malformation and occipital cephalocele; Hydrocephalus with or without seizures",
"entity_name": "NID1",
"entity_type": "gene"
},
{
"created": "2020-05-04T13:04:08.692720+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2714",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NID1 were set to ",
"entity_name": "NID1",
"entity_type": "gene"
},
{
"created": "2020-05-04T13:03:55.115389+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2713",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NID1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NID1",
"entity_type": "gene"
},
{
"created": "2020-05-04T13:03:40.409473+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.116",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: ZIC4: Rating: RED; Mode of pathogenicity: None; Publications: 21204220, 15338008; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "ZIC4",
"entity_type": "gene"
},
{
"created": "2020-05-04T13:03:35.385658+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NID1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23674478, 25558065, 12480912, 30773799; Phenotypes: Dandy-Walker malformation and occipital cephalocele, Hydrocephalus with or without seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NID1",
"entity_type": "gene"
},
{
"created": "2020-05-04T13:03:21.413179+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2712",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: ZIC4: Rating: RED; Mode of pathogenicity: None; Publications: 21204220, 15338008; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "ZIC4",
"entity_type": "gene"
},
{
"created": "2020-05-04T13:00:24.764112+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WNT1 as ready",
"entity_name": "WNT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T13:00:24.751424+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wnt1 has been classified as Red List (Low Evidence).",
"entity_name": "WNT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T13:00:22.301714+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WNT1 were changed from to Osteogenesis imperfecta, type XV (MIM#615220)",
"entity_name": "WNT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:59:55.223246+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WNT1 were set to ",
"entity_name": "WNT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:59:16.684718+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WNT1",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:59:08.715364+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.445",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: NDUFS7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22644603; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3 (MIM# 618224); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS7",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:58:00.241410+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NID1 as ready",
"entity_name": "NID1",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:58:00.227760+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nid1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NID1",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:57:50.118825+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NID1 were changed from to Dandy-Walker malformation and occipital cephalocele; Hydrocephalus with or without seizures",
"entity_name": "NID1",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:57:22.272008+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NID1 were set to ",
"entity_name": "NID1",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:56:52.615270+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NID1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NID1",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:54:37.392867+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ICK as ready",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:54:37.383732+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ick has been classified as Green List (High Evidence).",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:54:31.366494+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ICK as Green List (high evidence)",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:54:31.357876+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ick has been classified as Green List (High Evidence).",
"entity_name": "ICK",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:52:21.716773+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZIC4 as ready",
"entity_name": "ZIC4",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:52:21.703225+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zic4 has been classified as Red List (Low Evidence).",
"entity_name": "ZIC4",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:52:15.834711+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZIC4 were set to ",
"entity_name": "ZIC4",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:51:52.436292+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZIC4 as Red List (low evidence)",
"entity_name": "ZIC4",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:51:52.425548+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zic4 has been classified as Red List (Low Evidence).",
"entity_name": "ZIC4",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:51:00.797301+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NID1 as Amber List (moderate evidence)",
"entity_name": "NID1",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:51:00.787077+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nid1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NID1",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:50:30.978102+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NID1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23674478, 25558065, 12480912, 30773799; Phenotypes: Dandy-Walker malformation and occipital cephalocele, Hydrocephalus with or without seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NID1",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:47:41.604257+10:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel name changed from Joubert syndrome and other cerebellar malformations to Joubert syndrome and other neurological ciliopathies\nPanel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-05-04T12:42:12.750431+10:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZIC1 as ready",
"entity_name": "ZIC1",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:42:12.738396+10:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zic1 has been classified as Red List (Low Evidence).",
"entity_name": "ZIC1",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:40:14.025664+10:00",
"panel_name": "Joubert syndrome and other cerebellar malformations",
"panel_id": 129,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZIC1 were changed from to Structural brain anomalies with impaired intellectual development and craniosynostosis (MIM#618736)",
"entity_name": "ZIC1",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:39:26.452958+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIBF1 as ready",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2020-05-04T12:39:26.443774+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pibf1 has been classified as Green List (High Evidence).",
"entity_name": "PIBF1",
"entity_type": "gene"
}
]
}