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{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1596",
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"results": [
{
"created": "2020-09-12T10:45:33.955468+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CNGA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNGA3",
"entity_type": "gene"
},
{
"created": "2020-09-12T10:45:14.711035+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CNGA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9662398, 11536077, 17265047; Phenotypes: Achromatopsia 2, MIM# 216900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNGA3",
"entity_type": "gene"
},
{
"created": "2020-09-12T10:44:13.433220+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CNGA3 as ready",
"entity_name": "CNGA3",
"entity_type": "gene"
},
{
"created": "2020-09-12T10:44:13.424636+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cnga3 has been classified as Green List (High Evidence).",
"entity_name": "CNGA3",
"entity_type": "gene"
},
{
"created": "2020-09-12T10:44:10.481945+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CNGA3 were set to ",
"entity_name": "CNGA3",
"entity_type": "gene"
},
{
"created": "2020-09-12T10:43:57.722928+10:00",
"panel_name": "Achromatopsia",
"panel_id": 3149,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CNGA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9662398, 11536077, 17265047; Phenotypes: Achromatopsia 2, MIM# 216900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNGA3",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:22:53.714461+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPRED1 as ready",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:22:53.704238+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spred1 has been classified as Green List (High Evidence).",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:22:51.189593+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPRED1 were changed from to Legius syndrome, MIM# 611431",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:22:28.938312+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPRED1 were set to ",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:22:02.584141+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPRED1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:21:28.382136+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17704776, 19366998, 21548021; Phenotypes: Legius syndrome, MIM# 611431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:20:34.517918+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPRED1 as ready",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:20:34.503556+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spred1 has been classified as Green List (High Evidence).",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:20:24.122739+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPRED1 were changed from to Legius syndrome, MIM# 611431",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:19:50.129592+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPRED1 were set to ",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:19:23.075982+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPRED1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:18:55.567235+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17704776, 19366998, 21548021; Phenotypes: Legius syndrome, MIM# 611431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:14:46.478908+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPRED1 as ready",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:14:46.470391+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spred1 has been classified as Green List (High Evidence).",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:14:39.195144+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPRED1 were changed from to Legius syndrome, MIM# 611431",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:14:18.466058+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPRED1 were set to ",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:13:55.940901+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPRED1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:13:37.483682+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17704776, 19366998, 21548021; Phenotypes: Legius syndrome, MIM# 611431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:12:15.351434+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPRED1 as ready",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:12:15.341083+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spred1 has been classified as Green List (High Evidence).",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:12:12.634838+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPRED1 were changed from to Legius syndrome, MIM# 611431",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:11:31.565458+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPRED1 were set to ",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:11:03.688749+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPRED1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:10:39.522457+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17704776, 19366998, 21548021; Phenotypes: Legius syndrome, MIM# 611431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:06:02.790835+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SOS2: Changed publications: 26173643, 25795793, 32788663",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:05:36.820022+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOS2 were set to 25795793; 32788663",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:04:53.871212+10:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOS2 were set to 25795793; 26173643",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:04:33.912973+10:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SOS2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 25795793, 32788663; Phenotypes: Noonan syndrome 9, MIM# 616559; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:04:23.399575+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOS2 as ready",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:04:23.390244+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sos2 has been classified as Green List (High Evidence).",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:04:16.193023+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOS2 were changed from to Noonan syndrome 9, MIM# 616559",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:03:15.589615+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOS2 were set to ",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:02:51.768786+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SOS2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:02:20.887139+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SOS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:01:55.523908+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SOS2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 25795793, 32788663; Phenotypes: Noonan syndrome 9, MIM# 616559; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:00:33.611239+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOS2 were set to 26173643",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:00:13.503602+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOS2 were set to 26173643",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2020-09-12T08:00:02.991105+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SOS2 was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:59:44.352053+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SOS2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 25795793, 32788663; Phenotypes: Noonan syndrome 9, MIM# 616559; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:57:59.451645+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOS2 as ready",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:57:59.443018+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sos2 has been classified as Green List (High Evidence).",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:57:44.594945+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOS2 were changed from to Noonan syndrome 9, MIM# 616559",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:57:17.938714+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOS2 were set to ",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:56:44.523672+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SOS2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:56:19.590788+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SOS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:55:47.058698+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SOS2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 25795793, 32788663; Phenotypes: Noonan syndrome 9, MIM# 616559; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:47:14.194342+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOS1 as ready",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:47:14.175521+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sos1 has been classified as Green List (High Evidence).",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:47:10.653515+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOS1 were changed from to Noonan syndrome 4, MIM# 610733",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:46:46.019577+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOS1 were set to ",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:46:15.760224+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2989",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SOS1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:45:47.132553+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SOS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:45:18.882729+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 17143285, 17143282, 28884940, 17586837; Phenotypes: Noonan syndrome 4, MIM# 610733; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:44:07.457853+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOS1 were set to 25062969; 17143285; 17143282",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:41:43.691956+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SOS1: Added comment: Over 50 individuals reported with SOS1 variants and a Noonan syndrome phenotype. Pulmonic stenosis tends to be more frequent compared to those with PTPN11 mutations, and atrial septal defect is relatively rare. Ectodermal features including keratosis pilaris and curly hair are significantly more prevalent compared with the general Noonan population. Height below the third percentile and learning disability are observed in fewer individuals compared with Noonan syndrome in general. In contrast, macrocephaly is overrepresented among those with SOS1 mutations.; Changed rating: GREEN; Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Changed publications: 17143285, 17143282, 28884940, 17586837; Changed phenotypes: Noonan syndrome 4, MIM# 610733; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:39:20.054965+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOS1 as ready",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:39:20.043618+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sos1 has been classified as Green List (High Evidence).",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:39:17.421709+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOS1 were changed from to Noonan syndrome 4, MIM# 610733",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:38:53.730229+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOS1 were set to ",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:38:31.323454+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SOS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:38:02.739173+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17143285, 17143282, 28884940, 17586837; Phenotypes: Noonan syndrome 4, MIM# 610733; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:29:06.328693+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHOC2 as ready",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:29:06.318032+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shoc2 has been classified as Green List (High Evidence).",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:29:03.784719+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHOC2 were changed from to Noonan syndrome-like with loose anagen hair 1, MIM# 607721",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:28:39.820760+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SHOC2 were set to ",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:28:12.783264+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SHOC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:27:46.627426+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19684605, 23918763, 20882035; Phenotypes: Noonan syndrome-like with loose anagen hair 1, MIM# 607721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:26:35.966260+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHOC2 as ready",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:26:35.956171+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shoc2 has been classified as Green List (High Evidence).",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:26:29.275897+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHOC2 were changed from to Noonan syndrome-like with loose anagen hair 1, MIM# 607721",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:26:12.115559+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SHOC2 were set to ",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:25:54.238533+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SHOC2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:25:37.697445+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SHOC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:25:18.270825+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 19684605, 23918763, 20882035; Phenotypes: Noonan syndrome-like with loose anagen hair 1, MIM# 607721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:23:29.088394+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHOC2 as ready",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:23:29.077704+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shoc2 has been classified as Green List (High Evidence).",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:23:26.497437+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHOC2 were changed from to Noonan syndrome-like with loose anagen hair 1, MIM# 607721",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:23:03.163303+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SHOC2 were set to ",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:22:29.348404+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SHOC2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:22:04.668562+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SHOC2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2020-09-12T07:21:38.682912+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 19684605, 23918763, 20882035; Phenotypes: Noonan syndrome-like with loose anagen hair 1, MIM# 607721; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2020-09-11T21:17:23.314984+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RIT1 as ready",
"entity_name": "RIT1",
"entity_type": "gene"
},
{
"created": "2020-09-11T21:17:23.299620+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rit1 has been classified as Green List (High Evidence).",
"entity_name": "RIT1",
"entity_type": "gene"
},
{
"created": "2020-09-11T21:17:19.883828+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RIT1 were changed from to Noonan syndrome 8, MIM# 615355",
"entity_name": "RIT1",
"entity_type": "gene"
},
{
"created": "2020-09-11T21:16:54.617882+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RIT1 were set to ",
"entity_name": "RIT1",
"entity_type": "gene"
},
{
"created": "2020-09-11T21:16:23.192027+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: RIT1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "RIT1",
"entity_type": "gene"
},
{
"created": "2020-09-11T21:15:49.626808+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RIT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RIT1",
"entity_type": "gene"
},
{
"created": "2020-09-11T21:14:52.256361+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RIT1 as ready",
"entity_name": "RIT1",
"entity_type": "gene"
},
{
"created": "2020-09-11T21:14:52.245741+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rit1 has been classified as Green List (High Evidence).",
"entity_name": "RIT1",
"entity_type": "gene"
},
{
"created": "2020-09-11T21:14:45.563948+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RIT1 were changed from to Noonan syndrome 8, MIM# 615355",
"entity_name": "RIT1",
"entity_type": "gene"
},
{
"created": "2020-09-11T21:14:29.193787+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RIT1 were set to ",
"entity_name": "RIT1",
"entity_type": "gene"
},
{
"created": "2020-09-11T21:14:12.133342+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: RIT1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "RIT1",
"entity_type": "gene"
},
{
"created": "2020-09-11T21:13:53.284388+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RIT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RIT1",
"entity_type": "gene"
},
{
"created": "2020-09-11T21:13:28.633522+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RIT1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 23791108, 25124994, 24939608, 27101134; Phenotypes: Noonan syndrome 8, MIM# 615355; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RIT1",
"entity_type": "gene"
}
]
}