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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1864",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1862",
"results": [
{
"created": "2020-04-14T12:09:50.660236+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTHFS as ready",
"entity_name": "MTHFS",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:09:50.651362+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mthfs has been classified as Green List (High Evidence).",
"entity_name": "MTHFS",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:08:58.691816+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEBL as ready",
"entity_name": "NEBL",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:08:58.678192+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nebl has been classified as Green List (High Evidence).",
"entity_name": "NEBL",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:08:53.965711+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NEBL as Green List (high evidence)",
"entity_name": "NEBL",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:08:53.952179+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nebl has been classified as Green List (High Evidence).",
"entity_name": "NEBL",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:08:23.835019+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEBL was added\ngene: NEBL was added to Dilated Cardiomyopathy. Sources: Literature\nMode of inheritance for gene: NEBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NEBL were set to 27186169\nPhenotypes for gene: NEBL were set to Hypertrophic cardiomyopathy; dilated cardiomyopathy\nReview for gene: NEBL was set to GREEN\nAdded comment: 7 patients from 6 unrelated families described with missense variants in this gene; some with HOCM, some with DCM. \nSources: Literature",
"entity_name": "NEBL",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:05:44.497174+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEBL as ready",
"entity_name": "NEBL",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:05:44.483543+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nebl has been classified as Green List (High Evidence).",
"entity_name": "NEBL",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:05:34.990771+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NEBL as Green List (high evidence)",
"entity_name": "NEBL",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:05:34.977072+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nebl has been classified as Green List (High Evidence).",
"entity_name": "NEBL",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:05:07.463205+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEBL was added\ngene: NEBL was added to Hypertrophic cardiomyopathy_HCM. Sources: Literature\nMode of inheritance for gene: NEBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NEBL were set to 27186169\nPhenotypes for gene: NEBL were set to Hypertrophic cardiomyopathy; dilated cardiomyopathy\nReview for gene: NEBL was set to GREEN\nAdded comment: 7 individuals from 6 unrelated families described with missense variants in this gene; some with HOCM, some with DCM. \nSources: Literature",
"entity_name": "NEBL",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:04:21.604239+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEBL as ready",
"entity_name": "NEBL",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:04:21.591657+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nebl has been classified as Green List (High Evidence).",
"entity_name": "NEBL",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:03:55.675804+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEBL were changed from to Hypertrophic cardiomyopathy; dilated cardiomyopathy",
"entity_name": "NEBL",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:03:17.732853+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEBL were set to ",
"entity_name": "NEBL",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:02:56.290796+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NEBL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NEBL",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:02:03.377789+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPHP3 as ready",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:02:03.364148+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nphp3 has been classified as Green List (High Evidence).",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:01:55.212431+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPHP3 were changed from to Meckel syndrome 7, MIM# 267010; Nephronophthisis 3, MIM# 604387; Renal-hepatic-pancreatic dysplasia 1, MIM# 208540",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:01:35.057487+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NPHP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2020-04-14T12:01:14.805489+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Meckel syndrome 7, MIM# 267010, Nephronophthisis 3, MIM# 604387, Renal-hepatic-pancreatic dysplasia 1, MIM# 208540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2020-04-14T11:59:08.106857+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NR2E1 as ready",
"entity_name": "NR2E1",
"entity_type": "gene"
},
{
"created": "2020-04-14T11:59:08.097815+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr2e1 has been classified as Red List (Low Evidence).",
"entity_name": "NR2E1",
"entity_type": "gene"
},
{
"created": "2020-04-14T11:59:00.146355+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NR2E1 as Red List (low evidence)",
"entity_name": "NR2E1",
"entity_type": "gene"
},
{
"created": "2020-04-14T11:59:00.137240+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr2e1 has been classified as Red List (Low Evidence).",
"entity_name": "NR2E1",
"entity_type": "gene"
},
{
"created": "2020-04-14T11:56:15.819211+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NRROS as ready",
"entity_name": "NRROS",
"entity_type": "gene"
},
{
"created": "2020-04-14T11:56:15.809890+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nrros has been classified as Green List (High Evidence).",
"entity_name": "NRROS",
"entity_type": "gene"
},
{
"created": "2020-04-14T11:55:55.288908+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NRROS as ready",
"entity_name": "NRROS",
"entity_type": "gene"
},
{
"created": "2020-04-14T11:55:55.278216+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nrros has been classified as Green List (High Evidence).",
"entity_name": "NRROS",
"entity_type": "gene"
},
{
"created": "2020-04-14T11:55:24.724824+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NRROS as ready",
"entity_name": "NRROS",
"entity_type": "gene"
},
{
"created": "2020-04-14T11:55:24.716150+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nrros has been classified as Green List (High Evidence).",
"entity_name": "NRROS",
"entity_type": "gene"
},
{
"created": "2020-04-14T11:54:52.107567+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUP214 as ready",
"entity_name": "NUP214",
"entity_type": "gene"
},
{
"created": "2020-04-14T11:54:52.098157+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup214 has been classified as Green List (High Evidence).",
"entity_name": "NUP214",
"entity_type": "gene"
},
{
"created": "2020-04-14T11:54:43.778220+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NUP214 were changed from epileptic encephalopathy; developmental regression; microcephaly to Encephalopathy, acute, infection-induced, susceptibility to, 9, MIM# 618426; epileptic encephalopathy; developmental regression; microcephaly",
"entity_name": "NUP214",
"entity_type": "gene"
},
{
"created": "2020-04-14T11:53:33.304226+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NXN as ready",
"entity_name": "NXN",
"entity_type": "gene"
},
{
"created": "2020-04-14T11:53:33.294481+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nxn has been classified as Green List (High Evidence).",
"entity_name": "NXN",
"entity_type": "gene"
},
{
"created": "2020-04-14T11:52:50.261676+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Note recent report of 6 individuals from three unrelated families with prominent immunological phenotype.; to: Note additional recent report of 6 individuals from three unrelated families with prominent immunological phenotype.",
"entity_name": "PAX1",
"entity_type": "gene"
},
{
"created": "2020-04-14T11:52:34.355216+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PAX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32111619; Phenotypes: Otofaciocervical syndrome 2, MIM#615560, Syndromic SCID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PAX1",
"entity_type": "gene"
},
{
"created": "2020-04-14T11:51:27.407515+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAX1 as ready",
"entity_name": "PAX1",
"entity_type": "gene"
},
{
"created": "2020-04-14T11:51:27.393636+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax1 has been classified as Green List (High Evidence).",
"entity_name": "PAX1",
"entity_type": "gene"
},
{
"created": "2020-04-14T11:51:19.220726+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAX1 were changed from to Otofaciocervical syndrome 2, MIM#615560; Syndromic SCID",
"entity_name": "PAX1",
"entity_type": "gene"
},
{
"created": "2020-04-14T11:51:03.783588+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAX1 were set to 29681087; 28657137; 23851939",
"entity_name": "PAX1",
"entity_type": "gene"
},
{
"created": "2020-04-14T11:49:47.275917+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAX1 were set to ",
"entity_name": "PAX1",
"entity_type": "gene"
},
{
"created": "2020-04-14T11:49:30.127966+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PAX1",
"entity_type": "gene"
},
{
"created": "2020-04-14T11:48:49.352027+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDE8B as ready",
"entity_name": "PDE8B",
"entity_type": "gene"
},
{
"created": "2020-04-14T11:48:49.339092+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde8b has been classified as Green List (High Evidence).",
"entity_name": "PDE8B",
"entity_type": "gene"
},
{
"created": "2020-04-14T11:48:41.215917+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDE8B were changed from to Striatal degeneration, autosomal dominant, MIM#609161",
"entity_name": "PDE8B",
"entity_type": "gene"
},
{
"created": "2020-04-14T11:48:27.886007+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDE8B were set to ",
"entity_name": "PDE8B",
"entity_type": "gene"
},
{
"created": "2020-04-14T11:48:13.976559+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDE8B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDE8B",
"entity_type": "gene"
},
{
"created": "2020-04-14T11:45:02.797774+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANLN as ready",
"entity_name": "ANLN",
"entity_type": "gene"
},
{
"created": "2020-04-14T11:45:02.784125+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: anln has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANLN",
"entity_type": "gene"
},
{
"created": "2020-04-14T11:44:54.296865+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANLN were changed from to Focal segmental glomerulosclerosis 8, OMIM #616032",
"entity_name": "ANLN",
"entity_type": "gene"
},
{
"created": "2020-04-14T11:44:40.354385+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANLN were set to ",
"entity_name": "ANLN",
"entity_type": "gene"
},
{
"created": "2020-04-13T22:00:07.244184+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGG as ready",
"entity_name": "PIGG",
"entity_type": "gene"
},
{
"created": "2020-04-13T22:00:07.235238+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigg has been classified as Green List (High Evidence).",
"entity_name": "PIGG",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:59:54.769753+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGG were changed from to Mental retardation, autosomal recessive 53, MIM#616917",
"entity_name": "PIGG",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:59:41.003192+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIGG were set to ",
"entity_name": "PIGG",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:59:26.100002+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIGG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGG",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:58:31.873524+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGU as ready",
"entity_name": "PIGU",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:58:31.854891+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigu has been classified as Green List (High Evidence).",
"entity_name": "PIGU",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:58:22.415306+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGU were changed from to Glycosylphosphatidylinositol biosynthesis defect 21; OMIM #618590",
"entity_name": "PIGU",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:58:08.384226+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIGU were set to ",
"entity_name": "PIGU",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:57:53.499065+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIGU was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGU",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:56:35.990575+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PUS3 as ready",
"entity_name": "PUS3",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:56:35.980410+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pus3 has been classified as Green List (High Evidence).",
"entity_name": "PUS3",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:56:27.827450+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PUS3 were changed from to Mental retardation, autosomal recessive 55, MIM# 617051",
"entity_name": "PUS3",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:56:11.256011+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PUS3 were set to ",
"entity_name": "PUS3",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:55:57.169699+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PUS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PUS3",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:54:39.480843+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RUBCN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RUBCN",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:54:05.010492+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RUBCN: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RUBCN",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:53:27.814913+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RUBCN as ready",
"entity_name": "RUBCN",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:53:27.801620+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rubcn has been classified as Green List (High Evidence).",
"entity_name": "RUBCN",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:53:20.224434+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RUBCN were changed from to Spinocerebellar ataxia, autosomal recessive 15, MIM#615705",
"entity_name": "RUBCN",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:53:01.183190+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RUBCN were set to ",
"entity_name": "RUBCN",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:52:42.774016+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHANK2 as ready",
"entity_name": "SHANK2",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:52:42.761423+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shank2 has been classified as Green List (High Evidence).",
"entity_name": "SHANK2",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:52:39.490553+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RUBCN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RUBCN",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:52:06.181248+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHANK2 were changed from to {Autism susceptibility 17}, MIM#613436; Autism spectrum disorder with or without intellectual disability",
"entity_name": "SHANK2",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:50:55.747560+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SHANK2 were set to ",
"entity_name": "SHANK2",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:50:31.978104+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SHANK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHANK2",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:49:59.285557+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SHANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30072871, 30911184, 20473310; Phenotypes: {Autism susceptibility 17}, Autism spectrum disorder with or without intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHANK2",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:47:36.006861+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHANK2 as ready",
"entity_name": "SHANK2",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:47:35.999642+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Reports of CNVs, LoF variants, and missense variants in this gene, generally ascertained in autism cohorts. Some de novo and others inherited from parents with a range of neuropsychiatric phenotypes.",
"entity_name": "SHANK2",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:47:35.949168+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shank2 has been classified as Green List (High Evidence).",
"entity_name": "SHANK2",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:46:08.506687+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHANK2 were changed from to {Autism susceptibility 17}; Autism spectrum disorder with or without intellectual disability",
"entity_name": "SHANK2",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:45:36.920249+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SHANK2 were set to ",
"entity_name": "SHANK2",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:44:12.217178+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SHANK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHANK2",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:43:23.486850+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC26A4 as ready",
"entity_name": "SLC26A4",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:43:23.473267+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc26a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC26A4",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:43:14.303308+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC26A4 were changed from to Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 600791; Pendred syndrome 274600",
"entity_name": "SLC26A4",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:43:00.912222+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC26A4 were set to ",
"entity_name": "SLC26A4",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:42:46.962283+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC26A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC26A4",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:42:00.721017+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMPD4 as ready",
"entity_name": "SMPD4",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:42:00.711161+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smpd4 has been classified as Green List (High Evidence).",
"entity_name": "SMPD4",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:41:52.030082+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMPD4 were changed from to Severe neurodevelopmental delay, microcephaly, arthrogryposis",
"entity_name": "SMPD4",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:41:38.344475+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMPD4 were set to ",
"entity_name": "SMPD4",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:41:23.737071+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMPD4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMPD4",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:40:16.905659+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX11 as ready",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2020-04-13T21:40:16.891723+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox11 has been classified as Green List (High Evidence).",
"entity_name": "SOX11",
"entity_type": "gene"
}
]
}