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{
"count": 220212,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=875",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=873",
"results": [
{
"created": "2022-04-24T16:28:39.348171+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "FAS",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:26:20.854807+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDE6H as ready",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:26:20.844533+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde6h has been classified as Green List (High Evidence).",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:26:12.302974+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDE6H were changed from to Achromatopsia 6 - MIM#610024",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:25:44.095019+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDE6H were set to ",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2022-04-24T16:25:24.646819+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDE6H was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2022-04-24T12:11:13.899113+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FARS2 as ready",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2022-04-24T12:11:13.885159+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fars2 has been classified as Green List (High Evidence).",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2022-04-24T12:11:10.435048+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FARS2 were changed from to combined oxidative phosphorylation defect type 14 MONDO:0013986; hereditary spastic paraplegia 77 MONDO:0014882",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2022-04-24T12:10:33.655707+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FARS2 were set to ",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2022-04-24T12:09:52.666242+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2022-04-24T12:09:13.181216+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30250868, 30177229, 29126765, 28043061; Phenotypes: combined oxidative phosphorylation defect type 14 MONDO:0013986, hereditary spastic paraplegia 77 MONDO:0014882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2022-04-24T12:07:24.146760+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDE6G as ready",
"entity_name": "PDE6G",
"entity_type": "gene"
},
{
"created": "2022-04-24T12:07:24.133443+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde6g has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDE6G",
"entity_type": "gene"
},
{
"created": "2022-04-24T12:07:21.325336+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDE6G were changed from Retinitis pigmentosa 57, 613582 to Retinitis pigmentosa 57, MIM#613582",
"entity_name": "PDE6G",
"entity_type": "gene"
},
{
"created": "2022-04-24T12:07:09.363638+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDE6G were set to ",
"entity_name": "PDE6G",
"entity_type": "gene"
},
{
"created": "2022-04-24T12:07:00.904389+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDE6G as Amber List (moderate evidence)",
"entity_name": "PDE6G",
"entity_type": "gene"
},
{
"created": "2022-04-24T12:07:00.894335+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde6g has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDE6G",
"entity_type": "gene"
},
{
"created": "2022-04-24T12:06:49.900541+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDE6G: Rating: AMBER; Mode of pathogenicity: None; Publications: 20655036; Phenotypes: Retinitis pigmentosa 57 - MIM#613582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDE6G",
"entity_type": "gene"
},
{
"created": "2022-04-24T12:06:22.117037+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDE6G as ready",
"entity_name": "PDE6G",
"entity_type": "gene"
},
{
"created": "2022-04-24T12:06:22.104481+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde6g has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDE6G",
"entity_type": "gene"
},
{
"created": "2022-04-24T12:06:13.889439+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDE6G were changed from to Retinitis pigmentosa 57 - MIM#613582",
"entity_name": "PDE6G",
"entity_type": "gene"
},
{
"created": "2022-04-24T12:05:53.320841+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDE6G were set to ",
"entity_name": "PDE6G",
"entity_type": "gene"
},
{
"created": "2022-04-24T12:05:34.024112+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDE6G was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDE6G",
"entity_type": "gene"
},
{
"created": "2022-04-24T12:05:08.181545+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDE6G as Amber List (moderate evidence)",
"entity_name": "PDE6G",
"entity_type": "gene"
},
{
"created": "2022-04-24T12:05:08.170171+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde6g has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDE6G",
"entity_type": "gene"
},
{
"created": "2022-04-24T12:04:17.888844+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDE6C as ready",
"entity_name": "PDE6C",
"entity_type": "gene"
},
{
"created": "2022-04-24T12:04:17.876819+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde6c has been classified as Green List (High Evidence).",
"entity_name": "PDE6C",
"entity_type": "gene"
},
{
"created": "2022-04-24T12:04:06.207650+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDE6C were changed from to Cone dystrophy 4, MIM# 613093; Achromatopsia-5",
"entity_name": "PDE6C",
"entity_type": "gene"
},
{
"created": "2022-04-24T12:03:45.827427+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDE6C were set to ",
"entity_name": "PDE6C",
"entity_type": "gene"
},
{
"created": "2022-04-24T12:03:25.860898+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDE6C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDE6C",
"entity_type": "gene"
},
{
"created": "2022-04-24T12:03:04.598447+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDE6C: Rating: GREEN; Mode of pathogenicity: None; Publications: 19615668, 30080950; Phenotypes: Cone dystrophy 4, MIM# 613093, Achromatopsia-5; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDE6C",
"entity_type": "gene"
},
{
"created": "2022-04-24T12:01:17.018110+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDE6B as ready",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2022-04-24T12:01:17.005590+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde6b has been classified as Green List (High Evidence).",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2022-04-24T12:01:03.234723+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDE6B were changed from to Night blindness, congenital stationary, autosomal dominant 2 - MIM#163500; Retinitis pigmentosa-40 - MIM#613801",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2022-04-24T12:00:39.065979+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDE6B were set to ",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2022-04-24T12:00:13.691451+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDE6B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:58:49.151557+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDE6A as ready",
"entity_name": "PDE6A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:58:49.138074+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde6a has been classified as Green List (High Evidence).",
"entity_name": "PDE6A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:58:42.966405+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDE6A were set to ",
"entity_name": "PDE6A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:58:23.832097+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDE6A: Rating: GREEN; Mode of pathogenicity: None; Publications: 35033039, 34926197, 18849587, 21039428, 17110911, 7493036; Phenotypes: Retinitis pigmentosa 43 - MIM#613810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDE6A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:57:50.131830+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDE6A as ready",
"entity_name": "PDE6A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:57:50.121518+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde6a has been classified as Green List (High Evidence).",
"entity_name": "PDE6A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:57:30.398059+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDE6A were changed from to Retinitis pigmentosa 43 - MIM#613810",
"entity_name": "PDE6A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:57:09.138022+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDE6A were set to ",
"entity_name": "PDE6A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:54:36.820765+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDE6A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDE6A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:54:17.661404+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDE6A: Rating: GREEN; Mode of pathogenicity: None; Publications: 35033039, 34926197, 18849587; Phenotypes: Retinitis pigmentosa 43 - MIM#613810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDE6A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:51:43.209129+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDE4D as ready",
"entity_name": "PDE4D",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:51:43.196947+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde4d has been classified as Green List (High Evidence).",
"entity_name": "PDE4D",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:51:36.154348+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDE4D as ready",
"entity_name": "PDE4D",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:51:36.140749+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde4d has been classified as Green List (High Evidence).",
"entity_name": "PDE4D",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:51:32.138788+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDE4D were changed from to Acrodysostosis 2, with or without hormone resistance, MIM# 614613",
"entity_name": "PDE4D",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:51:03.766575+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDE4D were set to ",
"entity_name": "PDE4D",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:50:30.465813+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDE4D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDE4D",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:49:55.785045+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDE4D: Rating: GREEN; Mode of pathogenicity: None; Publications: 22464250, 22464252, 23033274, 24203977; Phenotypes: Acrodysostosis 2, with or without hormone resistance, MIM# 614613; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDE4D",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:49:45.359936+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDE4D were changed from to Acrodysostosis 2, with or without hormone resistance, MIM# 614613",
"entity_name": "PDE4D",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:49:14.193730+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDE4D were set to ",
"entity_name": "PDE4D",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:48:49.029861+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDE4D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDE4D",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:48:29.802774+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDE4D: Rating: GREEN; Mode of pathogenicity: None; Publications: 22464250, 22464252, 23033274, 24203977; Phenotypes: Acrodysostosis 2, with or without hormone resistance, MIM# 614613; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDE4D",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:43:06.980481+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDE3A as ready",
"entity_name": "PDE3A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:43:06.965939+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde3a has been classified as Green List (High Evidence).",
"entity_name": "PDE3A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:42:50.947420+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDE3A were changed from to Hypertension and brachydactyly syndrome - MIM#112410",
"entity_name": "PDE3A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:42:27.638875+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDE3A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDE3A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:41:53.234432+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDE11A as ready",
"entity_name": "PDE11A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:41:53.223040+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde11a has been classified as Red List (Low Evidence).",
"entity_name": "PDE11A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:41:36.375399+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDE11A were changed from to Pigmented nodular adrenocortical disease, primary, 2 - MIM#610475",
"entity_name": "PDE11A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:41:14.703101+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDE11A were set to ",
"entity_name": "PDE11A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:40:53.811265+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDE11A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDE11A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:40:35.208901+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDE11A as Red List (low evidence)",
"entity_name": "PDE11A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:40:35.195306+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde11a has been classified as Red List (Low Evidence).",
"entity_name": "PDE11A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:40:16.176303+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: PDE11A.",
"entity_name": "PDE11A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:39:35.996908+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAM161A as ready",
"entity_name": "FAM161A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:39:35.987326+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fam161a has been classified as Green List (High Evidence).",
"entity_name": "FAM161A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:39:29.974464+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAM161A were changed from Retinitis pigmentosa 28, 606068 to Retinitis pigmentosa 28, 606068; Retinitis pigmentosa 28 MONDO:0011630",
"entity_name": "FAM161A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:39:14.854412+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FAM161A were set to ",
"entity_name": "FAM161A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:39:00.233020+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FAM161A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20705278, 20705279, 31236346, 24833722; Phenotypes: Retinitis pigmentosa 28 MONDO:0011630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAM161A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:27:54.427950+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHH as ready",
"entity_name": "SHH",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:27:54.422703+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: DISPUTED association with schizencephaly",
"entity_name": "SHH",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:27:54.383915+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shh has been classified as Green List (High Evidence).",
"entity_name": "SHH",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:27:30.849023+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHH were changed from to Holoprosencephaly 3, MIM#142945; Microphthalmia with coloboma 5, MIM#611638; Single median maxillary central incisor, MIM#147250",
"entity_name": "SHH",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:27:03.068563+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SHH were set to ",
"entity_name": "SHH",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:26:42.598079+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SHH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHH",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:25:15.825099+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FAM111B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FAM111B",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:24:32.279267+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SH3BP2 as ready",
"entity_name": "SH3BP2",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:24:32.267406+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sh3bp2 has been classified as Green List (High Evidence).",
"entity_name": "SH3BP2",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:21:09.433638+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SH3BP2 were set to ",
"entity_name": "SH3BP2",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:20:39.421658+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SH3BP2 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": "SH3BP2",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:20:06.701022+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SH3BP2: 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: ; Phenotypes: Cherubism, MIM#118400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SH3BP2",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:18:24.331595+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: SH3BP2: Cherubism is characterized by a loss of bone, restricted to the jaws, and by the replacement of this bone with fibrous tissues, leading to facial swelling. Involvement of the infraorbital rim and the orbital floor leads to the upward tilting of the eyeballs and consequent exposure of the inferior part of the sclerae, giving a 'cherubic' appearance. Submandibular lymph node enlargement is often reported. Functional impairment includes mastication and speech problems, tooth alterations, and loss of normal vision. Onset of the disease is usually between 14 months and 4 years of age. The disease progresses through puberty, then stabilizes, and in some cases regresses without treatment.",
"entity_name": "SH3BP2",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:17:24.878701+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SH3BP2 as ready",
"entity_name": "SH3BP2",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:17:24.867383+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sh3bp2 has been classified as Green List (High Evidence).",
"entity_name": "SH3BP2",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:17:16.031582+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SH3BP2 were changed from to Cherubism, MIM#118400",
"entity_name": "SH3BP2",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:16:55.977516+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SH3BP2 were set to ",
"entity_name": "SH3BP2",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:16:35.317264+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SH3BP2 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": "SH3BP2",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:16:15.056366+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SH3BP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SH3BP2",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:16:14.481717+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SH3BP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SH3BP2",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:15:42.250274+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SH3BP2: 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: ; Phenotypes: Cherubism, MIM#118400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SH3BP2",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:13:58.893967+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP11A were changed from Ventriculomegaly; cerebral atrophy; hypoplasia corpus callosum to Leukodystrophy, hypomyelinating, 24 , MIM# 619851",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:13:36.777783+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP11A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 24 , MIM# 619851; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:13:14.355213+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP11A were changed from Neurological disorder to Leukodystrophy, hypomyelinating, 24 , MIM# 619851",
"entity_name": "ATP11A",
"entity_type": "gene"
}
]
}