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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1955",
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"results": [
{
"created": "2020-01-31T09:38:28.192829+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt5b has been classified as Green List (High Evidence).",
"entity_name": "KMT5B",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:38:22.932054+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KMT5B were changed from to Mental retardation, autosomal dominant 51, MIM#617788",
"entity_name": "KMT5B",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:37:49.052126+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KMT5B as ready",
"entity_name": "KMT5B",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:37:49.046402+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt5b has been classified as Green List (High Evidence).",
"entity_name": "KMT5B",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:37:43.863996+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KMT5B were set to ",
"entity_name": "KMT5B",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:36:57.219667+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KMT5B were changed from to Mental retardation, autosomal dominant 51, MIM#617788",
"entity_name": "KMT5B",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:36:36.267336+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KMT5B were set to ",
"entity_name": "KMT5B",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:36:35.424969+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1054",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: IRF2BPL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30057031; Phenotypes: Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "IRF2BPL",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:36:03.918721+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KMT5B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KMT5B",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:35:21.968445+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KMT5B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KMT5B",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:35:08.000227+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KMT5B as ready",
"entity_name": "KMT5B",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:35:07.992734+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt5b has been classified as Green List (High Evidence).",
"entity_name": "KMT5B",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:34:53.016417+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.12",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Smith-Lemli-Opitz syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:34:42.270829+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KMT5B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 51, MIM#617788; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KMT5B",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:32:52.124357+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KMT5B were changed from to Mental retardation, autosomal dominant 51",
"entity_name": "KMT5B",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:32:35.539401+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KMT5B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KMT5B",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:31:48.491153+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAO1 as ready",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:31:48.484495+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnao1 has been classified as Green List (High Evidence).",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:31:38.814671+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNAO1 were changed from to Epileptic encephalopathy, early infantile, 17; Neurodevelopmental disorder with involuntary movements",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:31:09.193154+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNAO1 were set to ",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:30:37.088681+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAO1 as ready",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:30:37.082392+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnao1 has been classified as Green List (High Evidence).",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:30:22.579649+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNAO1 were changed from Epileptic encephalopathy, early infantile, 17; Neurodevelopmental disorder with involuntary movements to Epileptic encephalopathy, early infantile, 17; Neurodevelopmental disorder with involuntary movements",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:29:48.398347+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNAO1 were changed from to Epileptic encephalopathy, early infantile, 17; Neurodevelopmental disorder with involuntary movements",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:29:34.760208+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: GNAO1 was changed from to Other",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:29:00.040380+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNAO1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:28:37.091728+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1793",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNAO1 were set to ",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:28:26.664836+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNAO1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28747448, 30682224; Phenotypes: Epileptic encephalopathy, early infantile, 17, Neurodevelopmental disorder with involuntary movements; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:28:03.019061+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: GNAO1 was changed from to Other",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:27:28.523492+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNAO1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:26:48.083010+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAO1 as ready",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:26:48.075684+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnao1 has been classified as Green List (High Evidence).",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:26:37.289186+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNAO1 were changed from to Epileptic encephalopathy, early infantile, 17; Neurodevelopmental disorder with involuntary movements",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:26:16.197684+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNAO1 were set to ",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:25:46.870850+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNAO1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28747448, 30682224; Phenotypes: Epileptic encephalopathy, early infantile, 17, Neurodevelopmental disorder with involuntary movements; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:24:32.144645+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1050",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: KMT5B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal dominant 51; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "KMT5B",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:23:11.636746+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1050",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: LONP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31636596; Phenotypes: CODAS syndrome, Mitochondrial cytopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LONP1",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:21:05.040874+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.19",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ADAMTS10: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18567016; Phenotypes: Weill-Marchesani syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADAMTS10",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:20:48.456210+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: GNAO1 was changed from to Other",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:20:22.306177+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNAO1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:20:00.228629+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1048",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNAO1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28747448, 30682224; Phenotypes: Epileptic encephalopathy, early infantile, 17, Neurodevelopmental disorder with involuntary movements; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:17:48.876008+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAO1 as ready",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:17:48.868059+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnao1 has been classified as Green List (High Evidence).",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:17:26.573936+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNAO1 were changed from to Epileptic encephalopathy, early infantile, 17; Neurodevelopmental disorder with involuntary movements",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:17:09.144829+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.3",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: IARS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27426735; Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:16:47.689051+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNAO1 were set to ",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:16:00.166121+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNAO1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:15:24.688652+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNAO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28747448, 30682224; Phenotypes: Epileptic encephalopathy, early infantile, 17, Neurodevelopmental disorder with involuntary movements; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:14:49.105505+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.17",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: TUBA1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 30517687, 20466733; Phenotypes: Lissencephaly 3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBA1A",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:10:36.417810+11:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.43",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: SOX5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31578471; Phenotypes: Lamb-Shaffer syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SOX5",
"entity_type": "gene"
},
{
"created": "2020-01-31T09:07:06.609613+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.108",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: LZTR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 25795793, 29469822, 30368668, 30481304, 24362817; Phenotypes: Noonan syndrome 10, Noonan syndrome 2, {Schwannomatosis-2, susceptibility to}; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2020-01-30T22:15:51.482444+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAD as ready",
"entity_name": "CAD",
"entity_type": "gene"
},
{
"created": "2020-01-30T22:15:51.476925+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cad has been classified as Green List (High Evidence).",
"entity_name": "CAD",
"entity_type": "gene"
},
{
"created": "2020-01-30T22:15:30.611930+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CAD as Green List (high evidence)",
"entity_name": "CAD",
"entity_type": "gene"
},
{
"created": "2020-01-30T22:15:30.606418+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cad has been classified as Green List (High Evidence).",
"entity_name": "CAD",
"entity_type": "gene"
},
{
"created": "2020-01-30T22:14:55.524730+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CAD was added\ngene: CAD was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: CAD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CAD were set to 25678555; 28007989; 30914295\nPhenotypes for gene: CAD were set to Epileptic encephalopathy, early infantile, 50, MIM# MIM 616457\nReview for gene: CAD was set to GREEN\ngene: CAD was marked as current diagnostic\nAdded comment: Four unrelated families (two with same variant and Roma background, likely founder). \nSources: Expert list",
"entity_name": "CAD",
"entity_type": "gene"
},
{
"created": "2020-01-30T22:08:29.128323+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1048",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNG2 as ready",
"entity_name": "CACNG2",
"entity_type": "gene"
},
{
"created": "2020-01-30T22:08:29.122192+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1048",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacng2 has been classified as Red List (Low Evidence).",
"entity_name": "CACNG2",
"entity_type": "gene"
},
{
"created": "2020-01-30T22:05:03.494660+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1048",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNG2 were changed from to Mental retardation, autosomal dominant 10, MIM#614256",
"entity_name": "CACNG2",
"entity_type": "gene"
},
{
"created": "2020-01-30T22:04:28.673655+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNG2 as ready",
"entity_name": "CACNG2",
"entity_type": "gene"
},
{
"created": "2020-01-30T22:04:28.667939+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacng2 has been classified as Red List (Low Evidence).",
"entity_name": "CACNG2",
"entity_type": "gene"
},
{
"created": "2020-01-30T22:04:19.089731+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CACNG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNG2",
"entity_type": "gene"
},
{
"created": "2020-01-30T22:01:04.337151+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1787",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNG2 were changed from to Mental retardation, autosomal dominant 10, MIM#614256",
"entity_name": "CACNG2",
"entity_type": "gene"
},
{
"created": "2020-01-30T22:00:29.573754+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1047",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CACNG2 were set to ",
"entity_name": "CACNG2",
"entity_type": "gene"
},
{
"created": "2020-01-30T22:00:12.635199+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1046",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CACNG2 as Red List (low evidence)",
"entity_name": "CACNG2",
"entity_type": "gene"
},
{
"created": "2020-01-30T22:00:12.629284+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1046",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacng2 has been classified as Red List (Low Evidence).",
"entity_name": "CACNG2",
"entity_type": "gene"
},
{
"created": "2020-01-30T21:59:52.276805+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1045",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CACNG2: Rating: RED; Mode of pathogenicity: None; Publications: 21376300; Phenotypes: Mental retardation, autosomal dominant 10, MIM#614256; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNG2",
"entity_type": "gene"
},
{
"created": "2020-01-30T21:59:41.546049+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1786",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CACNG2 were set to ",
"entity_name": "CACNG2",
"entity_type": "gene"
},
{
"created": "2020-01-30T21:58:20.241807+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CACNG2 as Red List (low evidence)",
"entity_name": "CACNG2",
"entity_type": "gene"
},
{
"created": "2020-01-30T21:58:20.233638+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacng2 has been classified as Red List (Low Evidence).",
"entity_name": "CACNG2",
"entity_type": "gene"
},
{
"created": "2020-01-30T21:57:45.196344+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CACNG2: Rating: RED; Mode of pathogenicity: None; Publications: 21376300; Phenotypes: Mental retardation, autosomal dominant 10, MIM#614256; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNG2",
"entity_type": "gene"
},
{
"created": "2020-01-30T20:07:55.225316+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPM1D as ready",
"entity_name": "PPM1D",
"entity_type": "gene"
},
{
"created": "2020-01-30T20:07:55.217522+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppm1d has been classified as Green List (High Evidence).",
"entity_name": "PPM1D",
"entity_type": "gene"
},
{
"created": "2020-01-30T18:59:11.957439+11:00",
"panel_name": "Renal Hypertension and Disorders of Aldosterone Metabolism",
"panel_id": 190,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:STX16 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-30T18:38:22.587685+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1045",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPM1D as ready",
"entity_name": "PPM1D",
"entity_type": "gene"
},
{
"created": "2020-01-30T18:38:22.581592+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1045",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppm1d has been classified as Green List (High Evidence).",
"entity_name": "PPM1D",
"entity_type": "gene"
},
{
"created": "2020-01-30T18:38:04.969316+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1045",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPM1D were changed from to Jansen de Vries syndrome, MIM #617450",
"entity_name": "PPM1D",
"entity_type": "gene"
},
{
"created": "2020-01-30T18:35:08.213773+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1044",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPM1D were set to ",
"entity_name": "PPM1D",
"entity_type": "gene"
},
{
"created": "2020-01-30T18:34:31.664032+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1043",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPM1D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPM1D",
"entity_type": "gene"
},
{
"created": "2020-01-30T18:34:15.964434+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPM1D were changed from to Jansen de Vries syndrome (MIM #617450)",
"entity_name": "PPM1D",
"entity_type": "gene"
},
{
"created": "2020-01-30T18:34:07.903364+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1042",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPM1D: Rating: GREEN; Mode of pathogenicity: None; Publications: 28343630, 31916397, 30795918, 29758292; Phenotypes: Jansen de Vries syndrome, MIM #617450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPM1D",
"entity_type": "gene"
},
{
"created": "2020-01-30T18:32:01.902819+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1783",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PPM1D were set to ",
"entity_name": "PPM1D",
"entity_type": "gene"
},
{
"created": "2020-01-30T18:30:58.075839+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1782",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PPM1D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPM1D",
"entity_type": "gene"
},
{
"created": "2020-01-30T18:29:09.073659+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1042",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EGFR as ready",
"entity_name": "EGFR",
"entity_type": "gene"
},
{
"created": "2020-01-30T18:29:09.067534+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1042",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: egfr has been classified as Red List (Low Evidence).",
"entity_name": "EGFR",
"entity_type": "gene"
},
{
"created": "2020-01-30T18:28:58.431723+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1042",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EGFR were changed from to Inflammatory skin and bowel disease, neonatal, 2; OMIM # 616069",
"entity_name": "EGFR",
"entity_type": "gene"
},
{
"created": "2020-01-30T18:28:37.268912+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EGFR were set to ",
"entity_name": "EGFR",
"entity_type": "gene"
},
{
"created": "2020-01-30T18:28:12.772039+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1040",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EGFR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EGFR",
"entity_type": "gene"
},
{
"created": "2020-01-30T18:27:47.688985+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EGFR as Red List (low evidence)",
"entity_name": "EGFR",
"entity_type": "gene"
},
{
"created": "2020-01-30T18:27:47.683077+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: egfr has been classified as Red List (Low Evidence).",
"entity_name": "EGFR",
"entity_type": "gene"
},
{
"created": "2020-01-30T18:27:21.141816+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EGFR: Rating: RED; Mode of pathogenicity: None; Publications: 24691054; Phenotypes: Inflammatory skin and bowel disease, neonatal, 2, OMIM # 616069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EGFR",
"entity_type": "gene"
},
{
"created": "2020-01-30T16:54:18.920677+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLCNKA as ready",
"entity_name": "CLCNKA",
"entity_type": "gene"
},
{
"created": "2020-01-30T16:54:18.914298+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcnka has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLCNKA",
"entity_type": "gene"
},
{
"created": "2020-01-30T16:54:06.115820+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLCNKA were set to ",
"entity_name": "CLCNKA",
"entity_type": "gene"
},
{
"created": "2020-01-30T16:51:08.805308+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLCNKA were changed from to Bartter syndrome, type 4b, digenic; OMIM #613090",
"entity_name": "CLCNKA",
"entity_type": "gene"
},
{
"created": "2020-01-30T16:50:37.279158+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC9A3R1 as ready",
"entity_name": "SLC9A3R1",
"entity_type": "gene"
},
{
"created": "2020-01-30T16:50:37.272994+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc9a3r1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC9A3R1",
"entity_type": "gene"
},
{
"created": "2020-01-30T16:50:28.812052+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC9A3R1 were changed from to Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287",
"entity_name": "SLC9A3R1",
"entity_type": "gene"
},
{
"created": "2020-01-30T16:49:38.968260+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLCNKA was changed from Unknown to Other",
"entity_name": "CLCNKA",
"entity_type": "gene"
},
{
"created": "2020-01-30T16:46:36.695397+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLCNKA as Amber List (moderate evidence)",
"entity_name": "CLCNKA",
"entity_type": "gene"
}
]
}