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{
"count": 220440,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=957",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=955",
"results": [
{
"created": "2022-03-01T19:04:23.935630+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taok1 has been classified as Green List (High Evidence).",
"entity_name": "TAOK1",
"entity_type": "gene"
},
{
"created": "2022-03-01T19:03:51.125026+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STT3A as ready",
"entity_name": "STT3A",
"entity_type": "gene"
},
{
"created": "2022-03-01T19:03:51.110546+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stt3a has been classified as Green List (High Evidence).",
"entity_name": "STT3A",
"entity_type": "gene"
},
{
"created": "2022-03-01T19:03:45.447739+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STT3A as Green List (high evidence)",
"entity_name": "STT3A",
"entity_type": "gene"
},
{
"created": "2022-03-01T19:03:45.431519+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stt3a has been classified as Green List (High Evidence).",
"entity_name": "STT3A",
"entity_type": "gene"
},
{
"created": "2022-03-01T19:03:05.602724+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RHEB as ready",
"entity_name": "RHEB",
"entity_type": "gene"
},
{
"created": "2022-03-01T19:03:05.592461+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rheb has been classified as Green List (High Evidence).",
"entity_name": "RHEB",
"entity_type": "gene"
},
{
"created": "2022-03-01T19:02:57.739625+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RHEB as Green List (high evidence)",
"entity_name": "RHEB",
"entity_type": "gene"
},
{
"created": "2022-03-01T19:02:57.724998+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rheb has been classified as Green List (High Evidence).",
"entity_name": "RHEB",
"entity_type": "gene"
},
{
"created": "2022-03-01T19:02:17.053436+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPP2R5C as ready",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2022-03-01T19:02:17.027103+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2r5c has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2022-03-01T19:02:05.830622+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPP2R5C as Amber List (moderate evidence)",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2022-03-01T19:02:05.821076+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppp2r5c has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2022-03-01T19:01:19.714371+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LMNB2 as ready",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2022-03-01T19:01:19.704236+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmnb2 has been classified as Green List (High Evidence).",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2022-03-01T19:01:14.496687+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LMNB2 as Green List (high evidence)",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2022-03-01T19:01:14.486569+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmnb2 has been classified as Green List (High Evidence).",
"entity_name": "LMNB2",
"entity_type": "gene"
},
{
"created": "2022-03-01T19:00:19.195730+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCM7 as ready",
"entity_name": "MCM7",
"entity_type": "gene"
},
{
"created": "2022-03-01T19:00:19.182298+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcm7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MCM7",
"entity_type": "gene"
},
{
"created": "2022-03-01T19:00:13.261321+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MCM7 as Amber List (moderate evidence)",
"entity_name": "MCM7",
"entity_type": "gene"
},
{
"created": "2022-03-01T19:00:13.249689+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcm7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MCM7",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:59:16.731841+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4524",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LMNB1 as ready",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:59:16.719432+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4524",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmnb1 has been classified as Green List (High Evidence).",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:59:11.600577+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4524",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LMNB1 as Green List (high evidence)",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:59:11.587042+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4524",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmnb1 has been classified as Green List (High Evidence).",
"entity_name": "LMNB1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:58:32.015380+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LINGO1 as ready",
"entity_name": "LINGO1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:58:31.998992+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lingo1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LINGO1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:58:21.009229+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LINGO1 as Amber List (moderate evidence)",
"entity_name": "LINGO1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:58:20.993340+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lingo1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LINGO1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:57:37.083057+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAGE3 as ready",
"entity_name": "LAGE3",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:57:37.074011+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lage3 has been classified as Green List (High Evidence).",
"entity_name": "LAGE3",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:57:31.109303+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LAGE3 as Green List (high evidence)",
"entity_name": "LAGE3",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:57:31.098053+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lage3 has been classified as Green List (High Evidence).",
"entity_name": "LAGE3",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:56:38.946012+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF21B as ready",
"entity_name": "KIF21B",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:56:38.932639+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif21b has been classified as Green List (High Evidence).",
"entity_name": "KIF21B",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:56:32.933925+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIF21B were changed from Global developmental delay; Intellectual disability; Abnormality of brain morphology; Microcephaly to Neurodevelopmental disorder, MONDO:0700092; Global developmental delay; Intellectual disability; Abnormality of brain morphology; Microcephaly",
"entity_name": "KIF21B",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:55:34.797196+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIF21B as Green List (high evidence)",
"entity_name": "KIF21B",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:55:34.786163+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif21b has been classified as Green List (High Evidence).",
"entity_name": "KIF21B",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:54:36.872895+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PQBP1 as ready",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:54:36.861014+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pqbp1 has been classified as Green List (High Evidence).",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:54:33.286320+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PQBP1 were changed from RENPENNING S(YNDROME 1 to Renpenning syndrome, MIM#309500",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:54:21.826006+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PQBP1 were set to ",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:53:40.642169+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRKAR1A as ready",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:53:40.631333+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkar1a has been classified as Green List (High Evidence).",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:53:36.898894+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKAR1A were changed from ACRODYSOSTOSIS to Acrodysostosis 1, with or without hormone resistance, MIM#101800",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:53:24.163287+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRKAR1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:53:12.239634+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple phenotypes associated with this gene, but this particular OMIM condition has ID as part of the phenotype.; to: Multiple phenotypes associated with this gene, but this particular OMIM condition has prenatal growth retardation as part of the phenotype.",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:52:08.128275+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRKD1 as ready",
"entity_name": "PRKD1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:52:08.116471+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkd1 has been classified as Green List (High Evidence).",
"entity_name": "PRKD1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:52:03.181885+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKD1 were changed from Syndromic congenital heart defects to Congenital heart defects and ectodermal dysplasia, MIM#617364",
"entity_name": "PRKD1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:51:41.864921+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRKD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PRKD1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:51:20.352982+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRKD1: Added comment: PMID: 27479907 (2016): three individuals reported, two with the c.1774G>A variant and one with the c.896T>G variant. All had congenital heart disease, two had some developmental delay, and two had variable features of ectodermal dysplasia, including sparse hair, dry skin, thin skin, fragile nails, premature loss of primary teeth, and small widely spaced teeth; the third individuals had a 'disorganized eyebrow.' \r\n\r\nPMID: 32817298 (2020) - Two additional unrelated cases with de novo variants, c.1774G>C and c.1808G>A, and telangiectasia, ectodermal dysplasia, brachydactyly and congenital heart disease. Functional analysis using in vitro kinase assays with recombinant proteins showed that the c.1808G>A, p.(Arg603His) variant represents a gain-of-function mutation encoding an enzyme with a constitutive, lipid-independent catalytic activity. The c.1774G>C, p.(Gly592Arg) variant in contrast shows a defect in substrate phosphorylation representing a loss-of-function mutation.\r\n\r\nc.1774G>C, p.(Gly592Arg) is recurrent, reported in 3/5 individuals.; Changed publications: 27479907, 32817298; Changed phenotypes: Congenital heart defects and ectodermal dysplasia, MIM#617364; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PRKD1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:49:48.838822+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "PRKD1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:49:45.133681+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "PRKD1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:48:51.536488+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRSS56 as ready",
"entity_name": "PRSS56",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:48:51.513389+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prss56 has been classified as Green List (High Evidence).",
"entity_name": "PRSS56",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:48:47.711068+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRSS56 were changed from MICROPHTHALMIA ISOLATED TYPE 6 to Microphthalmia, isolated 6, MIM# 613517",
"entity_name": "PRSS56",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:48:33.611425+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRSS56 were set to ",
"entity_name": "PRSS56",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:33:27.339184+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB18 as ready",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:33:27.329923+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab18 has been classified as Green List (High Evidence).",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:33:20.147181+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAB18 were changed from WARBURG MICRO SYNDROME TYPE 3 to Warburg micro syndrome 3, MIM# 614222",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:33:11.907485+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAB18 were set to ",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:32:35.589382+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB3GAP1 as ready",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:32:35.577414+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab3gap1 has been classified as Green List (High Evidence).",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:32:30.741485+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAB3GAP1 were changed from WARBURG MICRO SYNDROME TYPE 1 to Warburg micro syndrome 1, MIM# 600118; Martsolf syndrome 2, MIM# 619420",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:32:18.120166+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAB3GAP1 were set to ",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:31:20.553875+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB3GAP2 as ready",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:31:20.533255+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab3gap2 has been classified as Green List (High Evidence).",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:31:15.668121+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAB3GAP2 were changed from MARTSOLF SYNDROME to Warburg micro syndrome 2, MIM# 614225",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:30:55.747297+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAB3GAP2 were set to ",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:29:46.982142+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAC1 as ready",
"entity_name": "RAC1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:29:46.968308+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rac1 has been classified as Green List (High Evidence).",
"entity_name": "RAC1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:29:43.459001+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAC1 were changed from Developmental Disorders with Diverse Phenotypes to Mental retardation, autosomal dominant 48, MIM# 617751",
"entity_name": "RAC1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:29:28.338553+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4504",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAC1 were set to 30712878; 28886345",
"entity_name": "RAC1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:29:07.869347+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: RAC1 was changed from to Other",
"entity_name": "RAC1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:28:58.328364+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAC1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:27:58.092064+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAD21 as ready",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:27:58.082669+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rad21 has been classified as Green List (High Evidence).",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:27:54.445597+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAD21 were changed from COHESINOPATHY to Cornelia de Lange syndrome 4, MIM# 614701; Holoprosencephaly",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:27:30.122191+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAD21 were set to ",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:27:15.377487+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAD21 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:26:41.579788+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAF1 as ready",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:26:41.566463+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: raf1 has been classified as Green List (High Evidence).",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:26:37.663738+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAF1 were changed from NOONAN SYNDROME 5 to Noonan syndrome 5, MIM# 611553",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:26:26.323344+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAF1 were set to ",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:26:14.812883+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: RAF1 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": "RAF1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:26:05.715715+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:25:36.139193+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAI1 as ready",
"entity_name": "RAI1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:25:36.129321+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rai1 has been classified as Green List (High Evidence).",
"entity_name": "RAI1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:25:24.018792+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAI1 were changed from SMITH-MAGENIS SYNDROME to Smith-Magenis syndrome (MIM#182290)",
"entity_name": "RAI1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:25:13.012313+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAI1 were set to ",
"entity_name": "RAI1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:25:01.293956+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAI1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAI1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:24:48.630836+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease association, multiple congenital anomalies.",
"entity_name": "RAI1",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:23:53.434180+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAPSN as ready",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:23:53.400990+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rapsn has been classified as Green List (High Evidence).",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:23:46.225462+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAPSN were changed from FETAL AKINESIA DEFORMATION SEQUENCE; CONGENITAL MYASTHENIC SYNDROME WITH ACETYLCHOLINE RECEPTOR DEFICIENCY to Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, MIM#616326; Fetal akinesia deformation sequence 2, MIM# 618388",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:23:23.270303+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RAPSN: Changed phenotypes: Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, MIM#616326, Fetal akinesia deformation sequence 2, MIM# 618388",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:23:01.398880+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: ID is not part of the phenotype.; to: Fetal akinesia, contractures.",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:22:40.943019+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RAPSN: Changed rating: GREEN",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2022-03-01T18:21:41.239011+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RARB as ready",
"entity_name": "RARB",
"entity_type": "gene"
}
]
}