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{
"count": 221413,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=343",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=341",
"results": [
{
"created": "2024-11-16T14:54:08.719794+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2147",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nfatc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NFATC2",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:53:42.467627+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2146",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: NFATC2: Rating: AMBER; Mode of pathogenicity: None; Publications: 35789258, 38427060; Phenotypes: Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NFATC2",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:52:23.575471+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.214",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NFATC2 as ready",
"entity_name": "NFATC2",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:52:23.564106+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.214",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nfatc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NFATC2",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:51:54.028590+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.214",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NFATC2 as Amber List (moderate evidence)",
"entity_name": "NFATC2",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:51:53.998581+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.214",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nfatc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NFATC2",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:49:35.640693+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.213",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NFATC2 was added\ngene: NFATC2 was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: NFATC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NFATC2 were set to 35789258; 38427060\nPhenotypes for gene: NFATC2 were set to Lymphoproliferative syndrome, MONDO:0016537, NFATC2-related\nReview for gene: NFATC2 was set to AMBER\nAdded comment: 2 consanguineous families are reported with homozygous variants (a frameshift & an in-frame deletion). Both families have a lymphoproliferative disorder and one family also had soft tissue and cartilage abnormalities. IUIS IEI committee classify NFATC2-deficiency as a disease of immune dysregulation. \nSources: Expert list",
"entity_name": "NFATC2",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:34:48.782385+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.57",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "removed gene:LACC1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-16T14:33:27.546646+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.212",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: LACC1 as ready",
"entity_name": "LACC1",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:33:27.529306+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.212",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lacc1 has been classified as Green List (High Evidence).",
"entity_name": "LACC1",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:33:17.197878+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.212",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: LACC1 as Green List (high evidence)",
"entity_name": "LACC1",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:33:17.185944+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.212",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: IUIS IEI classifies LACC1-deficiency as a disease of immune dysregulation",
"entity_name": "LACC1",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:33:17.155440+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.212",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lacc1 has been classified as Green List (High Evidence).",
"entity_name": "LACC1",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:31:03.682869+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.210",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LACC1 was added\ngene: LACC1 was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: LACC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LACC1 were set to 25220867; 27881174; 30872671; 33718577\nPhenotypes for gene: LACC1 were set to juvenile arthritis due to defect in LACC1 MONDO:0032920",
"entity_name": "LACC1",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:29:51.193392+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.209",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: IL27RA as ready",
"entity_name": "IL27RA",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:29:51.181715+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.209",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: il27ra has been classified as Amber List (Moderate Evidence).",
"entity_name": "IL27RA",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:28:41.624163+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.209",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: IL27RA as Amber List (moderate evidence)",
"entity_name": "IL27RA",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:28:41.607505+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.209",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: il27ra has been classified as Amber List (Moderate Evidence).",
"entity_name": "IL27RA",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:28:05.357824+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.208",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IL27RA was added\ngene: IL27RA was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: IL27RA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL27RA were set to 38509369\nPhenotypes for gene: IL27RA were set to Epstein-Barr virus infection MONDO:0005111 , IL27RA-related\nReview for gene: IL27RA was set to AMBER\nAdded comment: 2 families reported. IL27RA-deficiency is classified as a disease of immune dysregulation by the IUIS IEI committee, under the Susceptibility to EBV and Lymphoproliferative Conditions subcategory. \nSources: Expert list",
"entity_name": "IL27RA",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:25:42.797600+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.207",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GIMAP5 as ready",
"entity_name": "GIMAP5",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:25:42.775945+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.207",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gimap5 has been classified as Green List (High Evidence).",
"entity_name": "GIMAP5",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:20:37.609077+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.207",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GIMAP5 as Green List (high evidence)",
"entity_name": "GIMAP5",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:20:37.598373+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.207",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gimap5 has been classified as Green List (High Evidence).",
"entity_name": "GIMAP5",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:20:06.552169+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.206",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GIMAP5 was added\ngene: GIMAP5 was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: GIMAP5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GIMAP5 were set to 33956074\nPhenotypes for gene: GIMAP5 were set to portal hypertension, noncirrhotic, 2 MONDO:0030397\nReview for gene: GIMAP5 was set to GREEN\ngene: GIMAP5 was marked as current diagnostic\nAdded comment: At least 4 families reported. GIMAP5-deficiency is classified as a disease of immune dysregulation by the IUIS IEI committee, under the Autoimmunity with or without Lymphoproliferation subcategory. \nSources: Expert list",
"entity_name": "GIMAP5",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:14:17.009531+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.205",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FERMT1 as ready",
"entity_name": "FERMT1",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:14:16.973394+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.205",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fermt1 has been classified as Green List (High Evidence).",
"entity_name": "FERMT1",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:14:13.531951+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.205",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FERMT1 as Green List (high evidence)",
"entity_name": "FERMT1",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:14:13.523195+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.205",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fermt1 has been classified as Green List (High Evidence).",
"entity_name": "FERMT1",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:13:44.886495+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.204",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FERMT1 was added\ngene: FERMT1 was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: FERMT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FERMT1 were set to 34512655\nPhenotypes for gene: FERMT1 were set to Kindler syndrome MONDO:0008260\nReview for gene: FERMT1 was set to GREEN\ngene: FERMT1 was marked as current diagnostic\nAdded comment: The IUIS IEI committee classifies FERMT1 deficiency (aka Kindler syndrome) as a disease of immune dysregulation under the Regulatory T Cell Defects subcategory. \nSources: Expert list",
"entity_name": "FERMT1",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:07:11.560557+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.203",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FAAP24 as Red List (low evidence)",
"entity_name": "FAAP24",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:07:11.553487+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.203",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Disputed gene-disease association by the Primary Immune Regulatory Disorders GCEP (https://search.clinicalgenome.org/CCID:008245).",
"entity_name": "FAAP24",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:07:11.513423+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.203",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: faap24 has been classified as Red List (Low Evidence).",
"entity_name": "FAAP24",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:03:59.328472+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.202",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ERN1 as ready",
"entity_name": "ERN1",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:03:59.312752+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.202",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ern1 has been classified as Red List (Low Evidence).",
"entity_name": "ERN1",
"entity_type": "gene"
},
{
"created": "2024-11-16T14:03:42.527910+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.202",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ERN1 was added\ngene: ERN1 was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: ERN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ERN1 were set to Immune dysregulation\nReview for gene: ERN1 was set to RED\nAdded comment: On the IUIS 2024 update for IEIs as a gene associated with an AD disease of immune dysregulation, I cannot find any evidence of Mendelian disease. \nSources: Expert list",
"entity_name": "ERN1",
"entity_type": "gene"
},
{
"created": "2024-11-16T13:30:40.086011+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.201",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: DPP9 as ready",
"entity_name": "DPP9",
"entity_type": "gene"
},
{
"created": "2024-11-16T13:30:40.073117+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.201",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dpp9 has been classified as Green List (High Evidence).",
"entity_name": "DPP9",
"entity_type": "gene"
},
{
"created": "2024-11-16T13:30:35.456345+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.201",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DPP9 as Green List (high evidence)",
"entity_name": "DPP9",
"entity_type": "gene"
},
{
"created": "2024-11-16T13:30:35.445180+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.201",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dpp9 has been classified as Green List (High Evidence).",
"entity_name": "DPP9",
"entity_type": "gene"
},
{
"created": "2024-11-16T13:30:03.644171+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.200",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DPP9 was added\ngene: DPP9 was added to Disorders of immune dysregulation. Sources: Expert Review\nMode of inheritance for gene: DPP9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DPP9 were set to 36112693\nPhenotypes for gene: DPP9 were set to hatipoglu immunodeficiency syndrome MONDO:0957229\nReview for gene: DPP9 was set to GREEN\ngene: DPP9 was marked as current diagnostic\nAdded comment: 3 unrelated families and supporting null mouse model. IUIS IEI committee assign the condition to diseases of immune dysregulation in the subcategory of Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes). \nSources: Expert Review",
"entity_name": "DPP9",
"entity_type": "gene"
},
{
"created": "2024-11-16T13:19:49.907933+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.199",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ARPC5 as ready",
"entity_name": "ARPC5",
"entity_type": "gene"
},
{
"created": "2024-11-16T13:19:49.897498+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.199",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: arpc5 has been classified as Green List (High Evidence).",
"entity_name": "ARPC5",
"entity_type": "gene"
},
{
"created": "2024-11-16T13:19:18.253437+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.199",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ARPC5 as Green List (high evidence)",
"entity_name": "ARPC5",
"entity_type": "gene"
},
{
"created": "2024-11-16T13:19:18.240520+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.199",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: arpc5 has been classified as Green List (High Evidence).",
"entity_name": "ARPC5",
"entity_type": "gene"
},
{
"created": "2024-11-16T13:18:44.752773+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.198",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ARPC5 was added\ngene: ARPC5 was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: ARPC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARPC5 were set to 37382373; 37349293\nPhenotypes for gene: ARPC5 were set to Immunodeficiency 133 with autoimmunity and autoinflammation\tMIM#620565\nReview for gene: ARPC5 was set to GREEN\ngene: ARPC5 was marked as current diagnostic\nAdded comment: 3 unrelated consanguineous families with homozygous variants and supporting in vitro functional assays. Immune dysregulation is a prominent feature of the condition. The IUIS IEI committee classify it as a disease of immune dysregulation in the subcategory of autoimmunity with or without lymphoproliferation. \nSources: Expert list",
"entity_name": "ARPC5",
"entity_type": "gene"
},
{
"created": "2024-11-15T17:29:03.784902+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-11-15T17:26:53.667756+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FMR1 as ready",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2024-11-15T17:26:53.650264+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fmr1 has been classified as Green List (High Evidence).",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2024-11-15T17:26:44.043411+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FMR1 were changed from to fragile X syndrome MONDO:0010383",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2024-11-15T17:26:04.582930+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FMR1 were set to ",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2024-11-15T17:25:22.701913+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6909",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FMR1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2024-11-15T17:24:17.451484+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked STR: FRAXE as ready",
"entity_name": "FRAXE",
"entity_type": "str"
},
{
"created": "2024-11-15T17:24:17.433471+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Str: fraxe has been classified as Green List (High Evidence).",
"entity_name": "FRAXE",
"entity_type": "str"
},
{
"created": "2024-11-15T17:24:11.402746+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag STR tag was added to STR: FRAXE.",
"entity_name": "FRAXE",
"entity_type": "str"
},
{
"created": "2024-11-15T17:23:09.239601+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HADHA as ready",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2024-11-15T17:23:09.227216+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hadha has been classified as Green List (High Evidence).",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2024-11-15T17:23:04.529136+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HADHA were changed from to long chain 3-hydroxyacyl-CoA dehydrogenase deficiency MONDO:0012173",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2024-11-15T17:22:23.681145+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HADHA were set to ",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2024-11-15T17:21:44.642269+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HADHA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2024-11-15T17:17:15.230431+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX14 as ready",
"entity_name": "PEX14",
"entity_type": "gene"
},
{
"created": "2024-11-15T17:17:15.214120+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex14 has been classified as Green List (High Evidence).",
"entity_name": "PEX14",
"entity_type": "gene"
},
{
"created": "2024-11-15T17:05:56.634219+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AHSG as ready",
"entity_name": "AHSG",
"entity_type": "gene"
},
{
"created": "2024-11-15T17:05:56.624296+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ahsg has been classified as Red List (Low Evidence).",
"entity_name": "AHSG",
"entity_type": "gene"
},
{
"created": "2024-11-15T17:05:07.051252+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STN1 as ready",
"entity_name": "STN1",
"entity_type": "gene"
},
{
"created": "2024-11-15T17:05:07.037501+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stn1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "STN1",
"entity_type": "gene"
},
{
"created": "2024-11-15T17:04:49.395567+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STN1 were changed from cerebral calcification; premature ageing; bone marrow failure; retinal telangiactasia; hepatic fibrosis to Cerebroretinal microangiopathy with calcification and cysts 2, MIM#617341",
"entity_name": "STN1",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:56:53.121700+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCNT as ready",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:56:53.092942+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcnt has been classified as Amber List (Moderate Evidence).",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:56:48.299307+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCNT were changed from to Microcephalic osteodysplastic primordial dwarfism, type II MIM#210720",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:56:10.999663+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PCNT were set to ",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:55:39.697197+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PCNT was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:55:04.274260+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PCNT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:54:37.319505+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PCNT as Amber List (moderate evidence)",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:54:37.309265+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcnt has been classified as Amber List (Moderate Evidence).",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:54:09.974461+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PCNT as Amber List (moderate evidence)",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:54:09.962490+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcnt has been classified as Amber List (Moderate Evidence).",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:53:13.715138+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PC as ready",
"entity_name": "PC",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:53:13.703787+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pc has been classified as Green List (High Evidence).",
"entity_name": "PC",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:53:09.772023+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PC were changed from to Pyruvate carboxylase deficiency - MIM#266150",
"entity_name": "PC",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:52:27.241868+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PC were set to ",
"entity_name": "PC",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:51:44.583239+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PC",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:50:59.224679+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAX8 as ready",
"entity_name": "PAX8",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:50:59.197347+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax8 has been classified as Green List (High Evidence).",
"entity_name": "PAX8",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:50:55.287345+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAX8 were changed from to Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700",
"entity_name": "PAX8",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:50:04.379873+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAX8 were set to ",
"entity_name": "PAX8",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:49:08.243658+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAX8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX8",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:48:19.294553+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAX6 as ready",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:48:19.278693+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax6 has been classified as Green List (High Evidence).",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:48:14.788888+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAX6 were changed from Microphthalmia/coloboma 12, OMIM #120200 to Microphthalmia/coloboma 12, OMIM #120200",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:47:44.513021+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAX6 were changed from to Microphthalmia/coloboma 12, OMIM #120200",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:47:02.393177+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6891",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PAX6 were set to ",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:46:19.129444+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6890",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAX6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:45:23.633338+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PARN as ready",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:45:23.604972+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: parn has been classified as Green List (High Evidence).",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:44:56.168187+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6889",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PARN were changed from to Dyskeratosis congenita, autosomal recessive 6, MIM# 616353",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:44:13.902794+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PARN were set to ",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:43:16.762256+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PARN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:42:22.992838+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OTX2 as ready",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:42:22.975262+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otx2 has been classified as Green List (High Evidence).",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2024-11-15T16:42:11.937336+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OTX2 were changed from to Microphthalmia, syndromic 5, MIM# 610125; Pituitary hormone deficiency, combined, 6, MIM# 613986; Retinal dystrophy, early-onset, with or without pituitary dysfunction, MIM# 610125; Otocephaly-dysgnathia complex",
"entity_name": "OTX2",
"entity_type": "gene"
}
]
}