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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=457",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=455",
"results": [
{
"created": "2024-05-13T18:57:02.077611+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CASK were set to ",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:56:19.800315+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CASK as ready",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:56:19.794779+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Microcephaly with pontine and cerebellar hypoplasia (MICPCH), generally associated with pathogenic loss-of-function variants in CASK\r\nX-linked intellectual disability (XLID) with or without nystagmus, generally associated with hypomorphic CASK pathogenic variants",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:56:19.753084+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cask has been classified as Green List (High Evidence).",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:56:15.246998+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CASK were changed from to FG syndrome 4 MIM#300422; Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749; Intellectual disability, with or without nystagmus MIM#300422",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:55:11.751757+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CASK was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:54:15.800959+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LCP1 as ready",
"entity_name": "LCP1",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:54:15.782718+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lcp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LCP1",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:54:10.701842+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LCP1 as Amber List (moderate evidence)",
"entity_name": "LCP1",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:54:10.689460+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lcp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LCP1",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:53:39.819259+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LCP1 was added\ngene: LCP1 was added to Bone Marrow Failure. Sources: Literature\nMode of inheritance for gene: LCP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LCP1 were set to 38710235\nPhenotypes for gene: LCP1 were set to Bone marrow failure syndrome, MONDO:0000159, LCP1-related\nReview for gene: LCP1 was set to AMBER\nAdded comment: 3 individuals from single kindred presenting with fevers, recurrent infections ,lymphopenia, neutropenia and thrombocytopenia. Murine model with similar phenotype. heterozygous LCP1c.740 -1G>A splice site variant hypothesized to cause dominant negative mode of inheritance \nSources: Literature",
"entity_name": "LCP1",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:51:59.183090+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LCP1 as ready",
"entity_name": "LCP1",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:51:59.170637+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lcp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LCP1",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:51:50.140068+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LCP1 as Amber List (moderate evidence)",
"entity_name": "LCP1",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:51:50.116476+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lcp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LCP1",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:51:32.394481+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1783",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LCP1 was added\ngene: LCP1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: LCP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LCP1 were set to 38710235\nPhenotypes for gene: LCP1 were set to Bone marrow failure syndrome, MONDO:0000159, LCP1-related\nReview for gene: LCP1 was set to AMBER\nAdded comment: 3 individuals from single kindred presenting with fevers, recurrent infections ,lymphopenia, neutropenia and thrombocytopenia. Murine model with similar phenotype. heterozygous LCP1c.740 -1G>A splice site variant hypothesized to cause dominant negative mode of inheritance \nSources: Literature",
"entity_name": "LCP1",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:49:56.585532+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LCP1 as ready",
"entity_name": "LCP1",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:49:56.570550+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lcp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LCP1",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:49:53.597190+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LCP1 were changed from lymphopaenia and neutropaenia to Bone marrow failure syndrome, MONDO:0000159, LCP1-related",
"entity_name": "LCP1",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:49:20.796020+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LCP1 as Amber List (moderate evidence)",
"entity_name": "LCP1",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:49:20.781023+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lcp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LCP1",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:47:40.095356+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LCP1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Bone marrow failure syndrome, MONDO:0000159, LCP1-related; Mode of inheritance: None",
"entity_name": "LCP1",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:41:29.947559+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1782",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CLIC2: Added comment: DISPUTED by ClinGen.; Changed phenotypes: Intellectual disability, X-linked, syndromic 32, 300886",
"entity_name": "CLIC2",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:41:15.329376+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLIC2 were changed from Mental retardation, X-linked, syndromic 32, 300886 to Intellectual disability, X-linked, syndromic 32, 300886",
"entity_name": "CLIC2",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:39:44.104314+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: CLIC2.",
"entity_name": "CLIC2",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:39:08.462323+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1782",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UFSP2 were set to 33473208; 26428751; 28892125; 32755715",
"entity_name": "UFSP2",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:38:30.844100+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UFSP2: Added comment: PMID: 37214758:\r\n\r\nAdditional patient with spondyloepimetaphyseal dysplasia type Di Rocco:\r\n- het missense Cys302Ser\r\n- confirmed de novo in segregation analyses\r\n- absent in gnomAD\r\n- no functional studies on the missense.\r\n\r\nFour AD missense reported in the literature so far are located in the C-term catalytic domain - 1x hip dysplasia, Beukes type and 3x spondyloepimetaphyseal dysplasia type Di Rocco.\r\n\r\nThe well reported AR missense (associated with neurodevelopmental anomalies and epilepsy) is located in the N-terminal domain possibly involved in substrate binding.; Changed publications: 33473208, 26428751, 28892125, 32755715, 37214758",
"entity_name": "UFSP2",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:37:47.150203+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UFSP2 were set to 28892125; 26428751; 32755715",
"entity_name": "UFSP2",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:37:10.738500+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UFSP2 as Green List (high evidence)",
"entity_name": "UFSP2",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:37:10.724172+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ufsp2 has been classified as Green List (High Evidence).",
"entity_name": "UFSP2",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:36:04.472327+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: CNTN6.",
"entity_name": "CNTN6",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:35:39.896691+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: CNTN6.",
"entity_name": "CNTN6",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:35:15.934711+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHCR7 as ready",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:35:15.922507+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhcr7 has been classified as Green List (High Evidence).",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:34:55.348195+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DHCR7 were set to ",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:34:16.255450+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHCR7 were changed from to Smith-Lemli-Opitz syndrome MONDO:0010035",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:33:37.746521+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DHCR7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:32:51.743899+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DKC1 as ready",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:32:51.729266+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dkc1 has been classified as Green List (High Evidence).",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:32:42.998963+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DKC1 were set to ",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:32:10.127119+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DKC1 were changed from to DKC1-related disorder MONDO:0100152",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:31:31.987855+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DKC1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:28:04.935355+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: DPP6.",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:27:46.454119+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DPP6 were changed from Mental retardation, autosomal dominant 33 (MIM#616311) to Intellectual disability, autosomal dominant 33 (MIM#616311)",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:27:24.967150+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1780",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DPP6 as Red List (low evidence)",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:27:24.950823+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1780",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpp6 has been classified as Red List (Low Evidence).",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:27:08.876693+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: DPP6.",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:26:57.260533+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DPP6: Added comment: DISPUTED by ClinGen.; Changed rating: RED; Changed phenotypes: Intellectual disability, autosomal dominant 33 (MIM#616311)",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:26:21.435682+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DPP6 were changed from Mental retardation, autosomal dominant 33\t(MIM#616311) to Intellectual disability, autosomal dominant 33 (MIM#616311)",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:25:48.120456+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DPP6 as Red List (low evidence)",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:25:48.108801+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpp6 has been classified as Red List (Low Evidence).",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:25:15.312113+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DPP6: Added comment: DISPUTED by ClinGen.; Changed rating: RED; Changed phenotypes: Intellectual disability, autosomal dominant 33 (MIM#616311); Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:24:24.714191+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DPP6 were changed from Mental retardation, autosomal dominant 33 (MIM#616311) to Intellectual disability, autosomal dominant 33 (MIM#616311)",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:23:05.517999+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DPP6 as Red List (low evidence)",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:23:05.504160+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpp6 has been classified as Red List (Low Evidence).",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:22:34.290315+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: DPP6.",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:21:44.772241+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: FBN1.",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:21:10.728346+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FLNA as ready",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:21:10.719080+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flna has been classified as Green List (High Evidence).",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:21:06.493049+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FLNA were changed from to Heterotopia, periventricular, 1, MIM#\t300049",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:20:21.572692+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FLNA were set to ",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:19:47.661577+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FLNA was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2024-05-13T16:55:00.819844+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5798",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: FLNA: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004863; Phenotypes: periventricular nodular heterotopia MONDO:0020341; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2024-05-13T16:32:59.128119+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5798",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: FBN1: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004823; Phenotypes: Shprintzen-Goldberg syndrome MONDO:0008426; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2024-05-13T15:52:20.674697+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5798",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: DPP6: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004701; Phenotypes: complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DPP6",
"entity_type": "gene"
},
{
"created": "2024-05-13T15:39:18.666213+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5798",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004651; Phenotypes: DKC1-related disorder MONDO:0100152; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2024-05-13T15:11:05.879001+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5798",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: DHCR7: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004643; Phenotypes: Smith-Lemli-Opitz syndrome MONDO:0010035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2024-05-13T14:01:31.719658+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5798",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: CNTN6: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004489; Phenotypes: complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CNTN6",
"entity_type": "gene"
},
{
"created": "2024-05-13T13:54:25.161093+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.272",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: UFSP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37214758; Phenotypes: Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM# 617974; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "UFSP2",
"entity_type": "gene"
},
{
"created": "2024-05-13T13:42:29.065816+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5798",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: CLIC2: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004469; Phenotypes: X-linked complex neurodevelopmental disorder MONDO:0100148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CLIC2",
"entity_type": "gene"
},
{
"created": "2024-05-13T12:55:26.624487+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.59",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: LCP1 was added\ngene: LCP1 was added to Combined Immunodeficiency. Sources: Literature\nMode of inheritance for gene: LCP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LCP1 were set to PMID: 38710235\nPhenotypes for gene: LCP1 were set to lymphopaenia and neutropaenia\nMode of pathogenicity for gene: LCP1 was set to Other\nReview for gene: LCP1 was set to AMBER\nAdded comment: 3 individuals from single kindred presenting with fevers, recurrent infections ,lymphopaenia, neutropaenia and thrombocytopaenia. Murine model with similar phenotype. \r\nheterozygous LCP1c.740 -1G>A splice site variant hypothesized to cause dominant negative mode of inheritance \nSources: Literature",
"entity_name": "LCP1",
"entity_type": "gene"
},
{
"created": "2024-05-13T11:47:48.830312+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5798",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: CDH15: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004393; Phenotypes: intellectual disability MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDH15",
"entity_type": "gene"
},
{
"created": "2024-05-13T11:33:01.043665+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5798",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004345; Phenotypes: X-linked syndromic intellectual disability MONDO:0020119; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2024-05-13T10:54:59.751418+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5798",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: BCORL1: Rating: ; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004254; Phenotypes: Shukla-Vernon syndrome MONDO:0026727; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "BCORL1",
"entity_type": "gene"
},
{
"created": "2024-05-13T10:28:39.514811+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5798",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: BAZ2B: Rating: AMBER; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004237; Phenotypes: complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BAZ2B",
"entity_type": "gene"
},
{
"created": "2024-05-13T10:02:46.014240+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5798",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: AVPR1A: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004223; Phenotypes: autism spectrum disorder MONDO:0005258; Mode of inheritance: Unknown",
"entity_name": "AVPR1A",
"entity_type": "gene"
},
{
"created": "2024-05-11T13:22:54.627564+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDM5A were changed from Neurodevelopmental disorder MONDO:0700092, KDM5A-related to Neurodevelopmental disorder MONDO:0700092, KDM5A-related; El Hayek-Chahrour neurodevelopmental syndrome, MIM# 620820",
"entity_name": "KDM5A",
"entity_type": "gene"
},
{
"created": "2024-05-11T13:22:20.524576+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KDM5A: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, KDM5A-related, El Hayek-Chahrour neurodevelopmental syndrome, MIM# 620820",
"entity_name": "KDM5A",
"entity_type": "gene"
},
{
"created": "2024-05-11T13:21:48.056681+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDM5A were changed from autism spectrum disorder, MONDO:0005258; Neurodevelopmental disorder MONDO:0700092, KDM5A-related to El Hayek-Chahrour neurodevelopmental syndrome, MIM# 620820; Neurodevelopmental disorder MONDO:0700092, KDM5A-related",
"entity_name": "KDM5A",
"entity_type": "gene"
},
{
"created": "2024-05-11T13:21:16.704279+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KDM5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: El Hayek-Chahrour neurodevelopmental syndrome, MIM# 620820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KDM5A",
"entity_type": "gene"
},
{
"created": "2024-05-10T15:58:23.216638+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GTPBP3 as ready",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2024-05-10T15:58:23.204340+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtpbp3 has been classified as Green List (High Evidence).",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2024-05-10T15:58:18.210721+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GTPBP3 as Green List (high evidence)",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2024-05-10T15:58:18.189659+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtpbp3 has been classified as Green List (High Evidence).",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2024-05-10T15:58:06.165827+10:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GTPBP3 was added\ngene: GTPBP3 was added to Cardiomyopathy_Paediatric. Sources: Expert Review\nMode of inheritance for gene: GTPBP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GTPBP3 were set to 34276756; 25434004\nPhenotypes for gene: GTPBP3 were set to Combined oxidative phosphorylation deficiency 23 MIM#616198\nReview for gene: GTPBP3 was set to GREEN\nAdded comment: Clinical presentation: early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem.\r\n\r\nAt least 12 unrelated individuals reported. \nSources: Expert Review",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2024-05-10T10:03:15.107834+10:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-05-10T09:59:38.308996+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2666",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: STAT3 as ready",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2024-05-10T09:59:38.299722+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2666",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: stat3 has been classified as Red List (Low Evidence).",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2024-05-10T09:58:03.762756+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2666",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: STAT3 was added\ngene: STAT3 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: STAT3 was set to Unknown\nPublications for gene: STAT3 were set to 36935347\nReview for gene: STAT3 was set to RED\ngene: STAT3 was marked as current diagnostic\nAdded comment: No evidence of STAT3 being reported in individuals with seizures/epilepsy. Only mouse models. \nSources: Literature",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2024-05-10T09:52:11.981980+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2665",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: KCNIP4 as ready",
"entity_name": "KCNIP4",
"entity_type": "gene"
},
{
"created": "2024-05-10T09:52:11.969881+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2665",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: kcnip4 has been classified as Red List (Low Evidence).",
"entity_name": "KCNIP4",
"entity_type": "gene"
},
{
"created": "2024-05-10T09:51:54.541923+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1778",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: KCNIP4 as ready",
"entity_name": "KCNIP4",
"entity_type": "gene"
},
{
"created": "2024-05-10T09:51:54.525358+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1778",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: kcnip4 has been classified as Red List (Low Evidence).",
"entity_name": "KCNIP4",
"entity_type": "gene"
},
{
"created": "2024-05-10T09:51:33.958721+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2665",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: KCNIP4 was added\ngene: KCNIP4 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: KCNIP4 was set to Unknown\nPublications for gene: KCNIP4 were set to 33826137\nPhenotypes for gene: KCNIP4 were set to seizures; epilepsy\nReview for gene: KCNIP4 was set to RED\ngene: KCNIP4 was marked as current diagnostic\nAdded comment: single paper describing insertions of L1 retrotransposons in KCNIP4\r\nsamples were post-mortem of resected temporal cortex from individuals with idiopathic temporal lobe epilepsy\r\n\r\n1x de novo insertion of L1 in KCNIP4 however ddPCR revealed that this did NOT alter KCNIP4 mRNA expression \nSources: Literature",
"entity_name": "KCNIP4",
"entity_type": "gene"
},
{
"created": "2024-05-10T09:51:08.479436+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1778",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: KCNIP4 was added\ngene: KCNIP4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KCNIP4 was set to Unknown\nPublications for gene: KCNIP4 were set to 33826137\nPhenotypes for gene: KCNIP4 were set to seizures; epilepsy\nReview for gene: KCNIP4 was set to RED\ngene: KCNIP4 was marked as current diagnostic\nAdded comment: single paper describing insertions of L1 retrotransposons in KCNIP4\r\nsamples were post-mortem of resected temporal cortex from individuals with idiopathic temporal lobe epilepsy\r\n\r\n1x de novo insertion of L1 in KCNIP4 however ddPCR revealed that this did NOT alter KCNIP4 mRNA expression \nSources: Literature",
"entity_name": "KCNIP4",
"entity_type": "gene"
},
{
"created": "2024-05-10T09:38:28.073348+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2664",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: IDH1 as ready",
"entity_name": "IDH1",
"entity_type": "gene"
},
{
"created": "2024-05-10T09:38:28.062573+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2664",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: idh1 has been classified as Red List (Low Evidence).",
"entity_name": "IDH1",
"entity_type": "gene"
},
{
"created": "2024-05-10T09:38:02.999934+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2664",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: IDH1 was added\ngene: IDH1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: IDH1 was set to Other\nPhenotypes for gene: IDH1 were set to Ollier disease MONDO:0008145; Maffucci syndromeMONDO:0013808\nReview for gene: IDH1 was set to RED\ngene: IDH1 was marked as current diagnostic\nAdded comment: unable to find evidence of seizures/epilepsy for Ollier or Maffucci syndrome \nSources: Literature",
"entity_name": "IDH1",
"entity_type": "gene"
},
{
"created": "2024-05-10T09:00:31.502541+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2663",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: FGFR1 as ready",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2024-05-10T09:00:31.489993+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2663",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: fgfr1 has been classified as Green List (High Evidence).",
"entity_name": "FGFR1",
"entity_type": "gene"
}
]
}