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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=747",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=745",
"results": [
{
"created": "2022-09-22T17:09:54.942402+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALMS1 as Red List (low evidence)",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:09:54.933555+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alms1 has been classified as Red List (Low Evidence).",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2022-09-22T17:09:43.114737+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALMS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alstrom syndrome, MIM# 203800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:54:21.635959+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARX as ready",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:54:21.623230+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arx has been classified as Red List (Low Evidence).",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:54:18.367554+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARX were changed from Lissencephaly, X-linked 2 to Lissencephaly, X-linked 2, MIM# 300215",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:53:58.488458+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARX as Red List (low evidence)",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:53:58.478237+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arx has been classified as Red List (Low Evidence).",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:53:47.527174+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly, X-linked 2, MIM# 300215; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:52:08.867574+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARSA were changed from Severe late infantile form with mental retardation and severe course. Regression before 30 months; adult-onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy to Metachromatic leukodystrophy, MIM# 250100; Severe late infantile form with mental retardation and severe course. Regression before 30 months; adult-onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:51:48.088831+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Metachromatic leukodystrophy, MIM# 250100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:51:12.434639+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARSA as ready",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:51:12.412336+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arsa has been classified as Green List (High Evidence).",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:50:21.350217+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ARSA.\nTag clinical trial tag was added to gene: ARSA.",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:49:57.387240+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ARSA.\nTag clinical trial tag was added to gene: ARSA.",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:49:39.559053+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ARSA.\nTag clinical trial tag was added to gene: ARSA.",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:49:15.769352+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARSA as ready",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:49:15.760291+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arsa has been classified as Green List (High Evidence).",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:48:28.176738+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARSA were changed from to Metachromatic leukodystrophy, MIM# 250100",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:47:59.776183+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARSA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:47:27.829873+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ARSA.\nTag clinical trial tag was added to gene: ARSA.",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:47:15.016849+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Metachromatic leukodystrophy, MIM# 250100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:46:15.778126+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARSA as ready",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:46:15.768738+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arsa has been classified as Green List (High Evidence).",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:46:10.218880+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARSA were changed from to Metachromatic leukodystrophy, MIM# 250100",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:45:38.455105+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARSA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:45:10.938189+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Metachromatic leukodystrophy, MIM# 250100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:44:20.312337+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ARSA.\nTag clinical trial tag was added to gene: ARSA.",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:44:02.694263+10:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ARSA.\nTag clinical trial tag was added to gene: ARSA.",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:43:41.143995+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ARSA.\nTag clinical trial tag was added to gene: ARSA.",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:43:18.821102+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARSA as ready",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:43:18.811052+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arsa has been classified as Green List (High Evidence).",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:40:01.706794+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARSA were changed from Metachromatic leukodystrophy to Metachromatic leukodystrophy, MIM# 250100",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:39:50.390252+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: ARSA.\nTag treatable tag was added to gene: ARSA.\nTag clinical trial tag was added to gene: ARSA.",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:39:30.257656+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Metachromatic leukodystrophy, MIM# 250100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:19:42.661823+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ARPC1B.",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:19:26.772523+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ARPC1B.",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:19:15.785441+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Established gene-disease association, 3 families and functional data.\r\n\r\nSevere disorder with onset in infancy/childhood. Recurrent infections and inflammatory features such as vasculitis and eczema.\r\n\r\nTreatable: bone marrow transplant.; to: Established gene-disease association, 9 families and functional data.\r\n\r\nSevere disorder with onset in infancy/childhood. Recurrent infections and inflammatory features such as vasculitis and eczema.\r\n\r\nTreatable: bone marrow transplant.",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:19:03.689067+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least 9 unrelated families reported. \nSources: Expert list; to: At least 9 unrelated families reported. Treatable: BMT.\r\nSources: Expert list",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:18:24.254419+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Three families with functional data.; to: Three families with functional data.\r\n\r\nTreatment: BMT.",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:18:04.629909+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ARPC1B.",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:17:55.211500+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ARPC1B.",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:17:45.596511+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARPC1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28368018, 33679784; Phenotypes: Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, MIM# 617718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:14:37.865528+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARMC4 as ready",
"entity_name": "ARMC4",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:14:37.806137+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: armc4 has been classified as Red List (Low Evidence).",
"entity_name": "ARMC4",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:14:28.472522+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARMC4 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 23, MIM# 615451",
"entity_name": "ARMC4",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:14:04.180045+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARMC4 as Red List (low evidence)",
"entity_name": "ARMC4",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:14:04.170869+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: armc4 has been classified as Red List (Low Evidence).",
"entity_name": "ARMC4",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:13:52.844279+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARMC4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 23, MIM# 615451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARMC4",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:11:42.201209+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARFGEF2 as ready",
"entity_name": "ARFGEF2",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:11:42.192709+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arfgef2 has been classified as Red List (Low Evidence).",
"entity_name": "ARFGEF2",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:11:38.710016+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARFGEF2 were changed from Periventricular heterotopia with microcephaly to Periventricular heterotopia with microcephaly (MIM#608097)",
"entity_name": "ARFGEF2",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:11:22.972684+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARFGEF2 as Red List (low evidence)",
"entity_name": "ARFGEF2",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:11:22.962905+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arfgef2 has been classified as Red List (Low Evidence).",
"entity_name": "ARFGEF2",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:11:11.734048+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARFGEF2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Periventricular heterotopia with microcephaly (MIM#608097); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARFGEF2",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:08:52.880298+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AR as ready",
"entity_name": "AR",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:08:52.871611+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ar has been classified as Red List (Low Evidence).",
"entity_name": "AR",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:08:36.566302+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AR were changed from Androgen insensitivity, MIM# 300068 to Hypospadias 1, X-linked MIM#30063; Androgen insensitivity MIM#300068; Androgen insensitivity, partial, with or without breast cancer MIM#312300",
"entity_name": "AR",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:08:21.338476+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AR as Red List (low evidence)",
"entity_name": "AR",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:08:21.325894+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ar has been classified as Red List (Low Evidence).",
"entity_name": "AR",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:08:04.139731+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypospadias 1, X-linked MIM#30063, Androgen insensitivity MIM#300068, Androgen insensitivity, partial, with or without breast cancer MIM#312300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "AR",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:04:30.460908+10:00",
"panel_name": "Diabetes Insipidus",
"panel_id": 3445,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AVPR2 as ready",
"entity_name": "AVPR2",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:04:30.394976+10:00",
"panel_name": "Diabetes Insipidus",
"panel_id": 3445,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: avpr2 has been classified as Green List (High Evidence).",
"entity_name": "AVPR2",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:04:03.705756+10:00",
"panel_name": "Diabetes Insipidus",
"panel_id": 3445,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: AVPR2.\nTag clinical trial tag was added to gene: AVPR2.",
"entity_name": "AVPR2",
"entity_type": "gene"
},
{
"created": "2022-09-22T11:03:47.538950+10:00",
"panel_name": "Diabetes Insipidus",
"panel_id": 3445,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AVPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes insipidus, nephrogenic MIM#304800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "AVPR2",
"entity_type": "gene"
},
{
"created": "2022-09-22T10:34:48.316411+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\n\r\nOnset in infancy. Causes severe dehydration, can be life-threatening.\r\n\r\nTreatment: hydration, low-salt, low-protein diet, thiazide diuretics, amiloride, indomethacin.\r\n\r\nClinical trials.; to: Well established gene-disease association.\r\n\r\nOnset in infancy. Causes severe dehydration, can be life-threatening.\r\n\r\nTreatment: hydration, low-salt, low-protein diet, thiazide diuretics, amiloride, indomethacin.\r\n\r\nClinical trials.\r\n\r\nAround 10% of variants are large deletions.",
"entity_name": "AVPR2",
"entity_type": "gene"
},
{
"created": "2022-09-22T10:34:13.679036+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: AVPR2.",
"entity_name": "AVPR2",
"entity_type": "gene"
},
{
"created": "2022-09-22T10:32:58.585833+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag clinical trial tag was added to gene: AVPR2.",
"entity_name": "AVPR2",
"entity_type": "gene"
},
{
"created": "2022-09-22T10:32:08.095779+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AVPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes insipidus, nephrogenic 304800, Nephrogenic syndrome of inappropriate antidiuresis 300539; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "AVPR2",
"entity_type": "gene"
},
{
"created": "2022-09-22T10:31:36.854878+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: AVPR2.",
"entity_name": "AVPR2",
"entity_type": "gene"
},
{
"created": "2022-09-22T10:28:25.559770+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AVP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes insipidus, neurohypophyseal MIM#125700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AVP",
"entity_type": "gene"
},
{
"created": "2022-09-22T10:27:58.750976+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: AVP.\nTag clinical trial tag was added to gene: AVP.",
"entity_name": "AVP",
"entity_type": "gene"
},
{
"created": "2022-09-22T10:27:39.230006+10:00",
"panel_name": "Diabetes Insipidus",
"panel_id": 3445,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: AVP.\nTag clinical trial tag was added to gene: AVP.",
"entity_name": "AVP",
"entity_type": "gene"
},
{
"created": "2022-09-22T10:27:20.583787+10:00",
"panel_name": "Diabetes Insipidus",
"panel_id": 3445,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AVP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes insipidus, neurohypophyseal MIM#125700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AVP",
"entity_type": "gene"
},
{
"created": "2022-09-22T10:26:52.714949+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AVP as ready",
"entity_name": "AVP",
"entity_type": "gene"
},
{
"created": "2022-09-22T10:26:52.702059+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: avp has been classified as Green List (High Evidence).",
"entity_name": "AVP",
"entity_type": "gene"
},
{
"created": "2022-09-22T10:26:45.302704+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AVP as Green List (high evidence)",
"entity_name": "AVP",
"entity_type": "gene"
},
{
"created": "2022-09-22T10:26:45.292675+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: avp has been classified as Green List (High Evidence).",
"entity_name": "AVP",
"entity_type": "gene"
},
{
"created": "2022-09-22T10:26:31.666284+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AVP was added\ngene: AVP was added to gNBS. Sources: Expert Review\ntreatable, clinical trial tags were added to gene: AVP.\nMode of inheritance for gene: AVP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AVP were set to 32052034; 31238300\nPhenotypes for gene: AVP were set to Diabetes insipidus, neurohypophyseal MIM#125700\nReview for gene: AVP was set to GREEN\nAdded comment: Well established gene-disease association.\r\n\r\nOnset in childhood with polydipsia and polyuria. Can be life-threatening.\r\n\r\nTreatment: DDAVP.\r\nClinical trials. \nSources: Expert Review",
"entity_name": "AVP",
"entity_type": "gene"
},
{
"created": "2022-09-22T10:22:03.280012+10:00",
"panel_name": "Diabetes Insipidus",
"panel_id": 3445,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: AQP2.\nTag clinical trial tag was added to gene: AQP2.",
"entity_name": "AQP2",
"entity_type": "gene"
},
{
"created": "2022-09-22T10:21:46.976461+10:00",
"panel_name": "Diabetes Insipidus",
"panel_id": 3445,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AQP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes insipidus, nephrogenic MIM#125800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "AQP2",
"entity_type": "gene"
},
{
"created": "2022-09-22T10:20:22.060286+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: AQP2.\nTag clinical trial tag was added to gene: AQP2.",
"entity_name": "AQP2",
"entity_type": "gene"
},
{
"created": "2022-09-22T10:20:04.563931+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Dominant disease is caused by variants exerting a dominant negative effect, whereas recessive disease is caused by bi-allelic loss of function variants.; to: Dominant disease is caused by variants exerting a dominant negative effect, whereas recessive disease is caused by bi-allelic loss of function variants.\r\n\r\nOnset in infancy. Causes severe dehydration, can be life-threatening.\r\n\r\nTreatment: hydration, low-salt, low-protein diet, thiazide diuretics, amiloride, indomethacin.\r\n\r\nClinical trials.",
"entity_name": "AQP2",
"entity_type": "gene"
},
{
"created": "2022-09-22T10:19:21.909609+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AVPR2 as ready",
"entity_name": "AVPR2",
"entity_type": "gene"
},
{
"created": "2022-09-22T10:19:21.898181+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: avpr2 has been classified as Green List (High Evidence).",
"entity_name": "AVPR2",
"entity_type": "gene"
},
{
"created": "2022-09-22T10:19:14.603714+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: AVPR2.\nTag clinical trial tag was added to gene: AVPR2.",
"entity_name": "AVPR2",
"entity_type": "gene"
},
{
"created": "2022-09-22T10:18:57.724464+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AVPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes insipidus, nephrogenic, 1 304800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "AVPR2",
"entity_type": "gene"
},
{
"created": "2022-09-22T10:17:20.736656+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AQP2 as ready",
"entity_name": "AQP2",
"entity_type": "gene"
},
{
"created": "2022-09-22T10:17:20.728506+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aqp2 has been classified as Green List (High Evidence).",
"entity_name": "AQP2",
"entity_type": "gene"
},
{
"created": "2022-09-22T10:17:16.693306+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AQP2 were set to ",
"entity_name": "AQP2",
"entity_type": "gene"
},
{
"created": "2022-09-22T10:17:06.552119+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: AQP2.\nTag clinical trial tag was added to gene: AQP2.",
"entity_name": "AQP2",
"entity_type": "gene"
},
{
"created": "2022-09-22T10:16:52.698835+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AQP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7537761, 11536078; Phenotypes: Diabetes insipidus, nephrogenic, MIM#125800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "AQP2",
"entity_type": "gene"
},
{
"created": "2022-09-22T10:11:31.891505+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: AMN.",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2022-09-22T10:09:26.684825+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APTX as ready",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2022-09-22T10:09:26.676632+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aptx has been classified as Red List (Low Evidence).",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2022-09-22T10:09:19.989242+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: APTX were changed from Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2022-09-22T10:09:03.764749+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: APTX were set to ",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2022-09-22T10:08:47.797793+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: APTX as Red List (low evidence)",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2022-09-22T10:08:47.782814+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aptx has been classified as Red List (Low Evidence).",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2022-09-22T10:08:33.029226+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: APTX: Rating: RED; Mode of pathogenicity: None; Publications: 30986824, 26256098, 11586299; Phenotypes: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "APTX",
"entity_type": "gene"
}
]
}