HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1886",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1884",
"results": [
{
"created": "2020-04-04T11:58:11.718348+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il6st has been classified as Green List (High Evidence).",
"entity_name": "IL6ST",
"entity_type": "gene"
},
{
"created": "2020-04-04T11:57:40.858121+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL6ST was added\ngene: IL6ST was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: IL6ST was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL6ST were set to 28747427; 30309848; 12370259; 16041381; 31914175\nPhenotypes for gene: IL6ST were set to Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM#\t618523; Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response.\nReview for gene: IL6ST was set to GREEN\nAdded comment: Also known as gp130. Two families with bi-allelic missense variants and immunological phenotype described initially. More recently, five individuals from three families reported with a more complex Stuve-Wiedemann-like phenotype reported, including skeletal dysplasia and neonatal lung dysfunction with additional features such as congenital thrombocytopenia, eczematoid dermatitis, renal abnormalities, and defective acute-phase response. These three families had bi-allelic LoF variants (nonsense and canonical splice site). Several mouse models support gene-disease association. \nSources: Expert list",
"entity_name": "IL6ST",
"entity_type": "gene"
},
{
"created": "2020-04-04T11:41:52.457955+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL6R as ready",
"entity_name": "IL6R",
"entity_type": "gene"
},
{
"created": "2020-04-04T11:41:52.448775+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il6r has been classified as Amber List (Moderate Evidence).",
"entity_name": "IL6R",
"entity_type": "gene"
},
{
"created": "2020-04-04T11:41:43.751530+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL6R were changed from to Recurrent pyogenic infections, cold abscesses; High circulating IL-6 levels; High IgE",
"entity_name": "IL6R",
"entity_type": "gene"
},
{
"created": "2020-04-04T11:41:28.898719+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IL6R were set to ",
"entity_name": "IL6R",
"entity_type": "gene"
},
{
"created": "2020-04-04T11:41:09.571558+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IL6R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL6R",
"entity_type": "gene"
},
{
"created": "2020-04-04T11:40:43.536235+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IL6R as Amber List (moderate evidence)",
"entity_name": "IL6R",
"entity_type": "gene"
},
{
"created": "2020-04-04T11:40:43.523129+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il6r has been classified as Amber List (Moderate Evidence).",
"entity_name": "IL6R",
"entity_type": "gene"
},
{
"created": "2020-04-04T11:40:04.946993+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL6R as ready",
"entity_name": "IL6R",
"entity_type": "gene"
},
{
"created": "2020-04-04T11:40:04.937427+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il6r has been classified as Amber List (Moderate Evidence).",
"entity_name": "IL6R",
"entity_type": "gene"
},
{
"created": "2020-04-04T11:40:00.277614+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IL6R: Rating: AMBER; Mode of pathogenicity: None; Publications: 31235509; Phenotypes: Recurrent pyogenic infections, cold abscesses, High circulating IL-6 levels, High IgE; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL6R",
"entity_type": "gene"
},
{
"created": "2020-04-04T11:39:55.650488+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IL6R as Amber List (moderate evidence)",
"entity_name": "IL6R",
"entity_type": "gene"
},
{
"created": "2020-04-04T11:39:55.637184+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il6r has been classified as Amber List (Moderate Evidence).",
"entity_name": "IL6R",
"entity_type": "gene"
},
{
"created": "2020-04-04T11:39:19.293900+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL6R was added\ngene: IL6R was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: IL6R was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL6R were set to 31235509\nPhenotypes for gene: IL6R were set to Recurrent pyogenic infections, cold abscesses; High circulating IL-6 levels; High IgE\nReview for gene: IL6R was set to AMBER\nAdded comment: Two unrelated individuals reported, some functional data. \nSources: Expert list",
"entity_name": "IL6R",
"entity_type": "gene"
},
{
"created": "2020-04-03T21:31:48.189004+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NSMCE2 as ready",
"entity_name": "NSMCE2",
"entity_type": "gene"
},
{
"created": "2020-04-03T21:31:48.179988+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsmce2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NSMCE2",
"entity_type": "gene"
},
{
"created": "2020-04-03T21:31:25.111720+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NSMCE2 as ready",
"entity_name": "NSMCE2",
"entity_type": "gene"
},
{
"created": "2020-04-03T21:31:25.102807+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsmce2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NSMCE2",
"entity_type": "gene"
},
{
"created": "2020-04-03T20:55:43.614586+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MOGS as ready",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-04-03T20:55:43.601142+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mogs has been classified as Green List (High Evidence).",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-04-03T19:52:47.161925+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MOGS as Green List (high evidence)",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-04-03T19:52:47.152790+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mogs has been classified as Green List (High Evidence).",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-04-03T19:52:02.407155+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MOGS was added\ngene: MOGS was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: MOGS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MOGS were set to 10788335; 24716661; 29235540\nPhenotypes for gene: MOGS were set to Congenital disorder of glycosylation, type IIb, MIM#\t606056; Severe hypogammaglobulinaemia; Bacterial and viral infections; Severe neurologic disease\nReview for gene: MOGS was set to GREEN\nAdded comment: Three families reported. \nSources: Expert list",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2020-04-03T19:44:26.479490+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIG1 as ready",
"entity_name": "LIG1",
"entity_type": "gene"
},
{
"created": "2020-04-03T19:44:26.465565+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lig1 has been classified as Green List (High Evidence).",
"entity_name": "LIG1",
"entity_type": "gene"
},
{
"created": "2020-04-03T19:44:11.465537+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LIG1 as Green List (high evidence)",
"entity_name": "LIG1",
"entity_type": "gene"
},
{
"created": "2020-04-03T19:44:11.457173+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lig1 has been classified as Green List (High Evidence).",
"entity_name": "LIG1",
"entity_type": "gene"
},
{
"created": "2020-04-03T19:43:52.690586+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIG1 was added\ngene: LIG1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: LIG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LIG1 were set to 30395541\nPhenotypes for gene: LIG1 were set to Combined immunodeficiency; Lymphopaenia; Hypogammaglobulinaemia; Recurrent bacterial and viral infections; Growth retardation; Sun sensitivity, radiation sensitivity; Macrocytosis\nReview for gene: LIG1 was set to GREEN\nAdded comment: Five individuals from three families. \nSources: Expert list",
"entity_name": "LIG1",
"entity_type": "gene"
},
{
"created": "2020-04-03T19:42:48.622982+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LIG1 as Green List (high evidence)",
"entity_name": "LIG1",
"entity_type": "gene"
},
{
"created": "2020-04-03T19:42:48.614151+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lig1 has been classified as Green List (High Evidence).",
"entity_name": "LIG1",
"entity_type": "gene"
},
{
"created": "2020-04-03T19:42:19.408073+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIG1 was added\ngene: LIG1 was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: LIG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LIG1 were set to 30395541\nPhenotypes for gene: LIG1 were set to Combined immunodeficiency; Lymphopaenia; Hypogammaglobulinaemia; Recurrent bacterial and viral infections; Growth retardation; Sun sensitivity, radiation sensitivity; Macrocytosis\nReview for gene: LIG1 was set to GREEN\nAdded comment: Five individuals from three families. \nSources: Expert list",
"entity_name": "LIG1",
"entity_type": "gene"
},
{
"created": "2020-04-03T19:34:04.583600+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLE2 was added\ngene: POLE2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: POLE2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLE2 were set to 26365386\nPhenotypes for gene: POLE2 were set to Combined immunodeficiency; Lymphopaenia; Lack of TRECS, absent proliferation in response to antigens; Hypoglobulinaemia; Recurrent infections, disseminated BCG infections; Autoimmunity; Facial dysmorphism\nReview for gene: POLE2 was set to RED\nAdded comment: Single family reported with homozygous splice site variant. \nSources: Expert list",
"entity_name": "POLE2",
"entity_type": "gene"
},
{
"created": "2020-04-03T19:32:15.940548+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLE2 as ready",
"entity_name": "POLE2",
"entity_type": "gene"
},
{
"created": "2020-04-03T19:32:15.927020+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pole2 has been classified as Red List (Low Evidence).",
"entity_name": "POLE2",
"entity_type": "gene"
},
{
"created": "2020-04-03T19:32:09.409841+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single family reported. \nSources: Expert list; to: Single family reported with homozygous splice site variant.\r\nSources: Expert list",
"entity_name": "POLE2",
"entity_type": "gene"
},
{
"created": "2020-04-03T19:31:24.510908+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLE2 was added\ngene: POLE2 was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: POLE2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLE2 were set to 26365386\nPhenotypes for gene: POLE2 were set to Combined immunodeficiency; Lymphopaenia; Lack of TRECS, absent proliferation in response to antigens; Hypoglobulinaemia; Recurrent infections, disseminated BCG infections; Autoimmunity; Facial dysmorphism\nReview for gene: POLE2 was set to RED\nAdded comment: Single family reported. \nSources: Expert list",
"entity_name": "POLE2",
"entity_type": "gene"
},
{
"created": "2020-04-03T18:25:38.161739+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FCHO1 as ready",
"entity_name": "FCHO1",
"entity_type": "gene"
},
{
"created": "2020-04-03T18:25:38.152747+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fcho1 has been classified as Green List (High Evidence).",
"entity_name": "FCHO1",
"entity_type": "gene"
},
{
"created": "2020-04-03T18:24:43.933949+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FCHO1 as Green List (high evidence)",
"entity_name": "FCHO1",
"entity_type": "gene"
},
{
"created": "2020-04-03T18:24:43.925057+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fcho1 has been classified as Green List (High Evidence).",
"entity_name": "FCHO1",
"entity_type": "gene"
},
{
"created": "2020-04-03T18:24:25.893948+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FCHO1 was added\ngene: FCHO1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: FCHO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FCHO1 were set to 32098969; 30822429\nPhenotypes for gene: FCHO1 were set to Combined immunodeficiency; T cells: low, poor proliferation; B cells: normal number; Recurrent infections (viral, mycobacteria, bacterial, fungal); lymphoproliferation; Failure to thrive; Increased activation-induced T-cell death; Defective clathrin-mediated endocytosis\nReview for gene: FCHO1 was set to GREEN\nAdded comment: More than 10 affected individuals with bi-allelic variants in this gene reported. Functional data. \nSources: Expert list",
"entity_name": "FCHO1",
"entity_type": "gene"
},
{
"created": "2020-04-03T18:24:07.600507+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FCHO1 as ready",
"entity_name": "FCHO1",
"entity_type": "gene"
},
{
"created": "2020-04-03T18:24:07.591466+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fcho1 has been classified as Green List (High Evidence).",
"entity_name": "FCHO1",
"entity_type": "gene"
},
{
"created": "2020-04-03T18:23:42.895295+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FCHO1 as Green List (high evidence)",
"entity_name": "FCHO1",
"entity_type": "gene"
},
{
"created": "2020-04-03T18:23:42.881767+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fcho1 has been classified as Green List (High Evidence).",
"entity_name": "FCHO1",
"entity_type": "gene"
},
{
"created": "2020-04-03T18:22:41.082269+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FCHO1 was added\ngene: FCHO1 was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: FCHO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FCHO1 were set to 32098969; 30822429\nPhenotypes for gene: FCHO1 were set to Combined immunodeficiency; T cells: low, poor proliferation; B cells: normal number; Recurrent infections (viral, mycobacteria, bacterial, fungal); lymphoproliferation; Failure to thrive; Increased activation-induced T-cell death; Defective clathrin-mediated endocytosis\nReview for gene: FCHO1 was set to GREEN\nAdded comment: More than 10 affected individuals with bi-allelic variants in this gene reported. Functional data. \nSources: Expert list",
"entity_name": "FCHO1",
"entity_type": "gene"
},
{
"created": "2020-04-03T18:13:05.815403+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: REL as ready",
"entity_name": "REL",
"entity_type": "gene"
},
{
"created": "2020-04-03T18:13:05.806027+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rel has been classified as Red List (Low Evidence).",
"entity_name": "REL",
"entity_type": "gene"
},
{
"created": "2020-04-03T18:12:10.051179+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: REL was added\ngene: REL was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: REL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: REL were set to 31103457\nPhenotypes for gene: REL were set to Combined immunodeficiency; T cells: normal, decreased memory CD4, poor proliferation; B cells: low, mostly naive, few switched memory B cells, impaired proliferation; Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms; Defective innate immunity\nReview for gene: REL was set to RED\nAdded comment: Single individual from consanguineous family reported with homozygous canonical splice site variant, no functional data. \nSources: Expert list",
"entity_name": "REL",
"entity_type": "gene"
},
{
"created": "2020-04-03T18:11:32.720146+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: REL as ready",
"entity_name": "REL",
"entity_type": "gene"
},
{
"created": "2020-04-03T18:11:32.707359+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rel has been classified as Red List (Low Evidence).",
"entity_name": "REL",
"entity_type": "gene"
},
{
"created": "2020-04-03T18:10:50.107488+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: REL was added\ngene: REL was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: REL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: REL were set to 31103457\nPhenotypes for gene: REL were set to Combined immunodeficiency; T cells: normal, decreased memory CD4, poor proliferation; B cells: low, mostly naive, few switched memory B cells, impaired proliferation; Recurrent infections with bacteria, mycobacteria, salmonella and opportunistic organisms; Defective innate immunity\nReview for gene: REL was set to RED\nAdded comment: Single individual from consanguineous family reported with homozygous canonical splice site variant, no functional data. \nSources: Expert list",
"entity_name": "REL",
"entity_type": "gene"
},
{
"created": "2020-04-03T18:04:54.520787+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TFRC as ready",
"entity_name": "TFRC",
"entity_type": "gene"
},
{
"created": "2020-04-03T18:04:54.507439+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tfrc has been classified as Amber List (Moderate Evidence).",
"entity_name": "TFRC",
"entity_type": "gene"
},
{
"created": "2020-04-03T18:04:44.301247+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TFRC were changed from to Immunodeficiency 46, MIM# 616740; T cells: normal number, poor proliferation; B cells: normal number, low memory B cells; recurrent infections, neutorpaenia; thrombocytopaenia",
"entity_name": "TFRC",
"entity_type": "gene"
},
{
"created": "2020-04-03T18:04:30.521782+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TFRC were set to ",
"entity_name": "TFRC",
"entity_type": "gene"
},
{
"created": "2020-04-03T18:04:11.178390+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TFRC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TFRC",
"entity_type": "gene"
},
{
"created": "2020-04-03T18:03:52.919965+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1909",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TFRC as Amber List (moderate evidence)",
"entity_name": "TFRC",
"entity_type": "gene"
},
{
"created": "2020-04-03T18:03:52.910885+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1909",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tfrc has been classified as Amber List (Moderate Evidence).",
"entity_name": "TFRC",
"entity_type": "gene"
},
{
"created": "2020-04-03T18:03:31.319228+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TFRC: Rating: AMBER; Mode of pathogenicity: None; Publications: 26642240; Phenotypes: Immunodeficiency 46, MIM# 616740, T cells: normal number, poor proliferation, B cells: normal number, low memory B cells, recurrent infections, neutorpaenia, thrombocytopaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TFRC",
"entity_type": "gene"
},
{
"created": "2020-04-03T18:03:21.876062+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TFRC as ready",
"entity_name": "TFRC",
"entity_type": "gene"
},
{
"created": "2020-04-03T18:03:21.866229+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tfrc has been classified as Amber List (Moderate Evidence).",
"entity_name": "TFRC",
"entity_type": "gene"
},
{
"created": "2020-04-03T18:03:05.645190+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TFRC as Amber List (moderate evidence)",
"entity_name": "TFRC",
"entity_type": "gene"
},
{
"created": "2020-04-03T18:03:05.637454+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tfrc has been classified as Amber List (Moderate Evidence).",
"entity_name": "TFRC",
"entity_type": "gene"
},
{
"created": "2020-04-03T18:02:44.091733+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TFRC as Amber List (moderate evidence)",
"entity_name": "TFRC",
"entity_type": "gene"
},
{
"created": "2020-04-03T18:02:44.082772+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tfrc has been classified as Amber List (Moderate Evidence).",
"entity_name": "TFRC",
"entity_type": "gene"
},
{
"created": "2020-04-03T18:02:14.738783+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TFRC was added\ngene: TFRC was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: TFRC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TFRC were set to 26642240\nPhenotypes for gene: TFRC were set to Immunodeficiency 46, MIM#\t616740; T cells: normal number, poor proliferation; B cells: normal number, low memory B cells; recurrent infections, neutorpaenia; thrombocytopaenia\nReview for gene: TFRC was set to AMBER\nAdded comment: Single family and functional data. \nSources: Expert list",
"entity_name": "TFRC",
"entity_type": "gene"
},
{
"created": "2020-04-03T17:15:03.537896+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TET2: Changed publications: 30890702, 31827242",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2020-04-03T17:14:45.817635+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: No evidence for Mendelian gene-disease association. Somatic TET2 variants are commonly found in cancers. One Finnish family reported where germline variant present 7 individuals, of whom 3 had lymphoma.; to: No evidence for Mendelian gene-disease association. Somatic TET2 variants are commonly found in cancers. One Finnish family reported where germline variant present 7 individuals, of whom 3 had lymphoma. Another French family reported with three sibs: frameshift variant and myeloid malignancies. Contribution of germline variants to malignancy risk to be established.",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2020-04-03T17:07:36.284923+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: No evidence for Mendelian gene-disease association. Somatic TET2 variants are commonly found in cancers.; to: No evidence for Mendelian gene-disease association. Somatic TET2 variants are commonly found in cancers. One Finnish family reported where germline variant present 7 individuals, of whom 3 had lymphoma.",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2020-04-03T17:06:05.073984+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TET2: Changed publications: 30890702",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2020-04-03T17:05:52.656219+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: No evidence for Mendelian gene-disease association.; to: No evidence for Mendelian gene-disease association. Somatic TET2 variants are commonly found in cancers.",
"entity_name": "TET2",
"entity_type": "gene"
},
{
"created": "2020-04-03T15:00:13.725755+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RELA as ready",
"entity_name": "RELA",
"entity_type": "gene"
},
{
"created": "2020-04-03T15:00:13.712512+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rela has been classified as Amber List (Moderate Evidence).",
"entity_name": "RELA",
"entity_type": "gene"
},
{
"created": "2020-04-03T15:00:01.213754+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RELA as Amber List (moderate evidence)",
"entity_name": "RELA",
"entity_type": "gene"
},
{
"created": "2020-04-03T15:00:01.204345+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rela has been classified as Amber List (Moderate Evidence).",
"entity_name": "RELA",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:59:41.703828+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RELA was added\ngene: RELA was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: RELA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RELA were set to 28600438; 29305315\nPhenotypes for gene: RELA were set to Mucocutaneous ulceration, chronic, MIM#\t618287; Impaired NFkB activation; reduced production of inflammatory cytokines; autoimmune cytopaenias\nReview for gene: RELA was set to AMBER\nAdded comment: Two families reported, somewhat different phenotypes. \nSources: Expert list",
"entity_name": "RELA",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:59:25.722212+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RELA as ready",
"entity_name": "RELA",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:59:25.712920+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rela has been classified as Amber List (Moderate Evidence).",
"entity_name": "RELA",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:59:19.398832+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RELA as Amber List (moderate evidence)",
"entity_name": "RELA",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:59:19.385465+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rela has been classified as Amber List (Moderate Evidence).",
"entity_name": "RELA",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:55:18.102433+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RELA was added\ngene: RELA was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: RELA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RELA were set to 28600438; 29305315\nPhenotypes for gene: RELA were set to Mucocutaneous ulceration, chronic, MIM#\t618287; Impaired NFkB activation; reduced production of inflammatory cytokines; autoimmune cytopaenias\nReview for gene: RELA was set to AMBER\nAdded comment: Two families reported, somewhat different phenotypes. \nSources: Expert list",
"entity_name": "RELA",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:48:42.350588+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RELB as ready",
"entity_name": "RELB",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:48:42.337122+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: relb has been classified as Amber List (Moderate Evidence).",
"entity_name": "RELB",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:48:32.344292+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RELB as Amber List (moderate evidence)",
"entity_name": "RELB",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:48:32.335403+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: relb has been classified as Amber List (Moderate Evidence).",
"entity_name": "RELB",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:48:13.927622+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RELB was added\ngene: RELB was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: RELB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RELB were set to 7834753; 26385063\nPhenotypes for gene: RELB were set to Immunodeficiency 53, MIM#\t617585; T cells: normal number, poor diversity, poor function; recurrent infections\nReview for gene: RELB was set to AMBER\nAdded comment: Single family reported, functional data. \nSources: Expert list",
"entity_name": "RELB",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:44:41.085471+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RELB as ready",
"entity_name": "RELB",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:44:41.077009+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: relb has been classified as Amber List (Moderate Evidence).",
"entity_name": "RELB",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:43:49.678429+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RELB as Amber List (moderate evidence)",
"entity_name": "RELB",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:43:49.669146+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: relb has been classified as Amber List (Moderate Evidence).",
"entity_name": "RELB",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:42:51.457110+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RELB was added\ngene: RELB was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: RELB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RELB were set to 7834753; 26385063\nPhenotypes for gene: RELB were set to Immunodeficiency 53, MIM#\t617585; T cells: normal number, poor diversity, poor function; recurrent infections\nReview for gene: RELB was set to AMBER\nAdded comment: Single family reported, functional data. \nSources: Expert list",
"entity_name": "RELB",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:34:07.316093+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single affected individual reported, compound heterozygous missense variants, some functional data. \nSources: Expert list; to: Single affected individual from consanguineous family reported, homozygous missense variant, some functional data. \r\nSources: Expert list",
"entity_name": "POLD2",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:33:33.178833+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLD2 was added\ngene: POLD2 was added to Combined Immunodeficiency. Sources: Expert list\nMode of inheritance for gene: POLD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLD2 were set to 31449058\nPhenotypes for gene: POLD2 were set to Low CD4 T cells; Low B cells, normal maturation; recurrent respiratory tract infections, skin infections, warts and molluscum; short stature; intellectual disability\nReview for gene: POLD2 was set to RED\nAdded comment: Single affected individual reported, compound heterozygous missense variants, some functional data. \nSources: Expert list",
"entity_name": "POLD2",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:32:38.082336+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Three individuals from two generations of a consanguineous family reported, some functional data. \nSources: Expert list; to: Three individuals from two generations of a consanguineous family reported, some functional data. Another unrelated individual reported in PMID 31449058, more functional data.\r\nSources: Expert list",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:31:52.688739+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POLD1: Changed publications: 31629014, 31449058",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:31:04.627249+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD247 as ready",
"entity_name": "CD247",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:31:04.618815+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd247 has been classified as Red List (Low Evidence).",
"entity_name": "CD247",
"entity_type": "gene"
},
{
"created": "2020-04-03T14:27:12.121156+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLD1 as ready",
"entity_name": "POLD1",
"entity_type": "gene"
}
]
}