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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1305",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1303",
"results": [
{
"created": "2021-06-07T09:50:30.144406+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZEB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mowat-Wilson syndrome, MIM# 235730, MONDO:0009341; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2021-06-07T09:48:40.833690+10:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: ZEB2.",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2021-06-07T09:48:34.637394+10:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZEB2 were changed from Mowat-Wilson syndrome (MIM#235730) to Mowat-Wilson syndrome, MIM# 235730; MONDO:0009341",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2021-06-07T09:47:51.587147+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: ZEB2.",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2021-06-07T09:47:42.630872+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZEB2 as ready",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2021-06-07T09:47:42.620698+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zeb2 has been classified as Green List (High Evidence).",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2021-06-07T09:47:39.965970+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZEB2 were changed from to Mowat-Wilson syndrome, MIM# 235730; MONDO:0009341",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2021-06-07T09:47:09.834778+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZEB2 were set to ",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2021-06-07T09:46:42.680103+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZEB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2021-06-07T09:46:16.912968+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZEB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27831545, 24715670, 19215041, 17958891; Phenotypes: Mowat-Wilson syndrome, MIM# 235730, MONDO:0009341; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2021-06-07T09:44:54.283221+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZEB2 as ready",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2021-06-07T09:44:54.273819+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zeb2 has been classified as Green List (High Evidence).",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2021-06-07T09:44:51.099294+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZEB2 were changed from to Mowat-Wilson syndrome, MIM# 235730; MONDO:0009341",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2021-06-07T09:44:21.316268+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZEB2 were set to ",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2021-06-07T09:43:51.553209+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZEB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2021-06-07T09:43:29.673906+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: ZEB2.",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2021-06-07T09:43:20.748756+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZEB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27831545, 24715670, 19215041, 17958891; Phenotypes: Mowat-Wilson syndrome, MIM# 235730, MONDO:0009341; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2021-06-06T20:58:18.517342+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBE3A as ready",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2021-06-06T20:58:18.507156+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube3a has been classified as Green List (High Evidence).",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2021-06-06T20:57:27.789413+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC9A6 as ready",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2021-06-06T20:57:27.778453+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc9a6 has been classified as Green List (High Evidence).",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2021-06-06T20:57:23.367664+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC9A6 were changed from to Mental retardation, X-linked syndromic, Christianson type, MIM# 300243; MONDO:0010278",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2021-06-06T20:56:57.074811+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC9A6 were set to ",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2021-06-06T20:56:24.090199+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC9A6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2021-06-06T20:55:55.559778+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3837",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC9A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 18342287, 19377476, 25044251, 33278113, 32569089, 31879735; Phenotypes: Mental retardation, X-linked syndromic, Christianson type, MIM# 300243, MONDO:0010278; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2021-06-06T20:55:14.958979+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC9A6 as ready",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2021-06-06T20:55:14.947178+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc9a6 has been classified as Green List (High Evidence).",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2021-06-06T20:55:11.186878+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC9A6 were changed from to Mental retardation, X-linked syndromic, Christianson type, MIM# 300243; MONDO:0010278",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2021-06-06T20:54:37.681886+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC9A6 were set to ",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2021-06-06T20:54:01.491674+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC9A6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2021-06-06T20:53:30.933106+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC9A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 18342287, 19377476, 25044251, 33278113, 32569089, 31879735; Phenotypes: Mental retardation, X-linked syndromic, Christianson type, MIM# 300243, MONDO:0010278; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2021-06-06T20:52:45.195602+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC9A6 as ready",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2021-06-06T20:52:45.184404+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc9a6 has been classified as Green List (High Evidence).",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2021-06-06T20:52:41.588944+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC9A6 as ready",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2021-06-06T20:52:41.578936+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc9a6 has been classified as Green List (High Evidence).",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2021-06-06T20:52:38.805749+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC9A6 were changed from to Mental retardation, X-linked syndromic, Christianson type, MIM# 300243; MONDO:0010278",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2021-06-06T20:52:30.763648+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC9A6 were changed from to Mental retardation, X-linked syndromic, Christianson type, MIM# 300243; MONDO:0010278",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2021-06-06T20:52:02.494861+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC9A6 were set to ",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2021-06-06T20:51:42.231189+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC9A6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2021-06-06T20:51:23.080476+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC9A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 18342287, 19377476, 25044251, 33278113, 32569089, 31879735; Phenotypes: Mental retardation, X-linked syndromic, Christianson type, MIM# 300243, MONDO:0010278; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2021-06-06T20:51:13.964763+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC9A6 were set to ",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2021-06-06T20:50:47.721487+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC9A6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2021-06-06T20:50:18.788312+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC9A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 18342287, 19377476, 25044251, 33278113, 32569089, 31879735; Phenotypes: Mental retardation, X-linked syndromic, Christianson type, MIM# 300243, MONDO:0010278; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SLC9A6",
"entity_type": "gene"
},
{
"created": "2021-06-06T19:27:22.935051+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPL3L were changed from Neonatal dilated cardiomyopathy to Cardiomyopathy, dilated, 2D, MIM# 619371; Neonatal dilated cardiomyopathy",
"entity_name": "RPL3L",
"entity_type": "gene"
},
{
"created": "2021-06-06T19:27:03.357918+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPL3L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 2D, MIM# 619371, Neonatal dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RPL3L",
"entity_type": "gene"
},
{
"created": "2021-06-06T19:26:29.336786+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:RPL3L from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-06-06T19:25:59.376764+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL3L as ready",
"entity_name": "RPL3L",
"entity_type": "gene"
},
{
"created": "2021-06-06T19:25:59.367448+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl3l has been classified as Green List (High Evidence).",
"entity_name": "RPL3L",
"entity_type": "gene"
},
{
"created": "2021-06-06T19:25:52.211757+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPL3L as Green List (high evidence)",
"entity_name": "RPL3L",
"entity_type": "gene"
},
{
"created": "2021-06-06T19:25:52.198002+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl3l has been classified as Green List (High Evidence).",
"entity_name": "RPL3L",
"entity_type": "gene"
},
{
"created": "2021-06-06T19:25:43.646858+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL3L was added\ngene: RPL3L was added to Cardiomyopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: RPL3L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RPL3L were set to 32514796; 32870709\nPhenotypes for gene: RPL3L were set to Cardiomyopathy, dilated, 2D, MIM# 619371; Neonatal dilated cardiomyopathy\nReview for gene: RPL3L was set to GREEN\nAdded comment: PMID: 32514796 - 5 hom/chet individuals from three independent families who presented with severe neonatal dilated cardiomyopathy. Unaffected sibs were either carriers of a single variant or homozygous wildtype.\r\n\r\nPMID: 32870709 - 1 hom patient w/ neonatal DCM \nSources: Literature",
"entity_name": "RPL3L",
"entity_type": "gene"
},
{
"created": "2021-06-06T19:23:11.473870+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPL3L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 2D, MIM# 619371; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RPL3L",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:22:10.890369+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHANK3 as ready",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:22:10.880425+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shank3 has been classified as Green List (High Evidence).",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:22:07.757295+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHANK3 were changed from Phelan-McDermid syndrome to Phelan-McDermid syndrome, MIM# 606232; MONDO:0011652",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:21:56.384435+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SHANK3 were set to ",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:21:44.150442+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: SHANK3.",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:21:33.744928+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30842224, 16284256, 17173049, 20186804, 22892527; Phenotypes: Phelan-McDermid syndrome, MIM# 606232, MONDO:0011652; Mode of inheritance: None",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:20:48.314402+10:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHANK3 as ready",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:20:48.304479+10:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shank3 has been classified as Green List (High Evidence).",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:20:44.882792+10:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: SHANK3.",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:20:35.453012+10:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHANK3 were changed from Phelan-McDermid syndrome 606232 to Phelan-McDermid syndrome, MIM# 606232; MONDO:0011652",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:20:26.785736+10:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SHANK3 were set to ",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:20:17.730215+10:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SHANK3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:20:08.236138+10:00",
"panel_name": "Lymphoedema_syndromic",
"panel_id": 3098,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31319798; Phenotypes: Phelan-McDermid syndrome, MIM# 606232, MONDO:0011652; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:18:04.470844+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: SHANK3.",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:17:49.267556+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: SHANK3.",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:17:31.965125+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHANK3 as ready",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:17:31.934820+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shank3 has been classified as Green List (High Evidence).",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:17:29.740648+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHANK3 were changed from to Phelan-McDermid syndrome, MIM# 606232; MONDO:0011652",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:16:21.421421+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SHANK3 were set to ",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:15:59.534212+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SHANK3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:15:26.681121+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30842224, 16284256, 17173049, 20186804, 22892527; Phenotypes: Phelan-McDermid syndrome, MIM# 606232, MONDO:0011652; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:14:51.722083+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHANK3 were changed from # 606232. PHELAN-MCDERMID SYNDROME - PHMDS to Phelan-McDermid syndrome, MIM# 606232; MONDO:0011652",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:14:06.220616+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3837",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHANK3 as ready",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:14:06.209421+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3837",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shank3 has been classified as Green List (High Evidence).",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:14:01.075780+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3837",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHANK3 were changed from to Phelan-McDermid syndrome, MIM# 606232; MONDO:0011652",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:13:36.630505+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SHANK3 were set to ",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:13:03.788882+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SHANK3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:12:35.822028+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: SHANK3.",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:12:26.696695+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16284256, 17173049, 20186804, 22892527; Phenotypes: Phelan-McDermid syndrome, MIM# 606232, MONDO:0011652; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:10:39.633886+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SHANK3 were set to 30842224",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:10:16.987055+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: SHANK3.",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:10:06.255059+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16284256, 17173049, 20186804, 22892527; Phenotypes: Phelan-McDermid syndrome, MIM# 606232; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:09:27.876830+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behaviour, and minor dysmorphic features.\r\n\r\nWell established gene-disease association, deletions are common.; to: Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behaviour, and minor dysmorphic features.\r\n\r\nWell established gene-disease association, deletions are common.\r\n\r\nMultiple individuals reported in Rett-like cohorts, PMID 30842224.",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:08:58.870043+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SHANK3: Changed publications: 30842224, 16284256, 17173049, 20186804, 22892527",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:08:34.105066+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SHANK3: Changed publications: 30842224",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:08:20.385805+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHANK3 were changed from Phelan-McDermid syndrome\t606232; Rett syndrome; Rett-like phenotypes to Phelan-McDermid syndrome\t606232; MONDO:0011652",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:07:53.094792+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHANK3 were changed from Phelan-McDermid syndrome, MIM# 606232 to Phelan-McDermid syndrome, MIM# 606232; MONDO:0011652",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:07:08.727351+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHANK3 as ready",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:07:08.717167+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shank3 has been classified as Green List (High Evidence).",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:07:05.513215+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: SHANK3.",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:06:58.314943+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SHANK3 were changed from to Phelan-McDermid syndrome, MIM# 606232",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:06:30.999180+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SHANK3 were set to ",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:06:02.560901+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SHANK3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T17:05:30.494704+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16284256, 17173049, 20186804, 22892527; Phenotypes: Phelan-McDermid syndrome, MIM# 606232; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-06-06T16:58:09.894828+10:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SATB2 as ready",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2021-06-06T16:58:09.884488+10:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: satb2 has been classified as Green List (High Evidence).",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2021-06-06T16:58:07.665154+10:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SATB2 were changed from to Glass syndrome, MIM# 612313; MONDO:0100147",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2021-06-06T16:57:41.263955+10:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SATB2 were set to ",
"entity_name": "SATB2",
"entity_type": "gene"
}
]
}