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=1884",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1882",
"results": [
{
"created": "2020-04-05T14:03:26.898172+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TGFB1 as Amber List (moderate evidence)",
"entity_name": "TGFB1",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:03:26.889836+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgfb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TGFB1",
"entity_type": "gene"
},
{
"created": "2020-04-05T14:02:56.520272+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TGFB1 was added\ngene: TGFB1 was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: TGFB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TGFB1 were set to 29483653\nPhenotypes for gene: TGFB1 were set to Inflammatory bowel disease, immunodeficiency, and encephalopathy MIM#\t618213\nReview for gene: TGFB1 was set to AMBER\nAdded comment: Two families and some functional data. \nSources: Expert list",
"entity_name": "TGFB1",
"entity_type": "gene"
},
{
"created": "2020-04-05T13:57:42.346660+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JAK1 as ready",
"entity_name": "JAK1",
"entity_type": "gene"
},
{
"created": "2020-04-05T13:57:42.332825+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jak1 has been classified as Red List (Low Evidence).",
"entity_name": "JAK1",
"entity_type": "gene"
},
{
"created": "2020-04-05T13:57:33.645785+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: JAK1 was added\ngene: JAK1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: JAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: JAK1 were set to 28111307\nPhenotypes for gene: JAK1 were set to Eosinophilia; Eosinophilic enteritis; Thyroid disease; Poor growth; Viral infections\nReview for gene: JAK1 was set to RED\nAdded comment: Single family reported (mother and two children) with GoF variant. \nSources: Expert list",
"entity_name": "JAK1",
"entity_type": "gene"
},
{
"created": "2020-04-05T13:55:03.796988+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JAK1 as ready",
"entity_name": "JAK1",
"entity_type": "gene"
},
{
"created": "2020-04-05T13:55:03.788072+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jak1 has been classified as Red List (Low Evidence).",
"entity_name": "JAK1",
"entity_type": "gene"
},
{
"created": "2020-04-05T13:54:57.382506+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: JAK1 was added\ngene: JAK1 was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: JAK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: JAK1 were set to 28111307\nPhenotypes for gene: JAK1 were set to Eosinophilia; Eosinophilic enteritis; Thyroid disease; Poor growth; Viral infections\nMode of pathogenicity for gene: JAK1 was set to Other\nReview for gene: JAK1 was set to RED\nAdded comment: Single family reported (mother and two children) with GoF variant. \nSources: Expert list",
"entity_name": "JAK1",
"entity_type": "gene"
},
{
"created": "2020-04-05T13:45:28.916447+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LRBA as ready",
"entity_name": "LRBA",
"entity_type": "gene"
},
{
"created": "2020-04-05T13:45:28.903223+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrba has been classified as Green List (High Evidence).",
"entity_name": "LRBA",
"entity_type": "gene"
},
{
"created": "2020-04-05T13:45:24.866160+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LRBA as Green List (high evidence)",
"entity_name": "LRBA",
"entity_type": "gene"
},
{
"created": "2020-04-05T13:45:24.852760+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrba has been classified as Green List (High Evidence).",
"entity_name": "LRBA",
"entity_type": "gene"
},
{
"created": "2020-04-05T13:44:43.013015+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRBA was added\ngene: LRBA was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LRBA were set to 22721650; 25468195; 26206937; 22608502\nPhenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity, MIM#\t614700; Recurrent infections; Inflammatory bowel disease; Autoimmunity; EBV infections\nReview for gene: LRBA was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "LRBA",
"entity_type": "gene"
},
{
"created": "2020-04-05T13:40:13.575330+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL2RB as ready",
"entity_name": "IL2RB",
"entity_type": "gene"
},
{
"created": "2020-04-05T13:40:13.562442+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il2rb has been classified as Green List (High Evidence).",
"entity_name": "IL2RB",
"entity_type": "gene"
},
{
"created": "2020-04-05T13:40:04.853910+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IL2RB as Green List (high evidence)",
"entity_name": "IL2RB",
"entity_type": "gene"
},
{
"created": "2020-04-05T13:40:04.841023+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il2rb has been classified as Green List (High Evidence).",
"entity_name": "IL2RB",
"entity_type": "gene"
},
{
"created": "2020-04-05T13:39:46.739758+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL2RB was added\ngene: IL2RB was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: IL2RB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL2RB were set to 31040184; 31040185\nPhenotypes for gene: IL2RB were set to Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM# 618495; Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune haemolytic anaemia, dermatitis, enteropathy, hypergammaglobulinaemia, recurrent viral (EBV, CMV) infections\nReview for gene: IL2RB was set to GREEN\nAdded comment: Five families reported. \nSources: Expert list",
"entity_name": "IL2RB",
"entity_type": "gene"
},
{
"created": "2020-04-05T13:38:17.035166+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL2RB as ready",
"entity_name": "IL2RB",
"entity_type": "gene"
},
{
"created": "2020-04-05T13:38:17.021877+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il2rb has been classified as Green List (High Evidence).",
"entity_name": "IL2RB",
"entity_type": "gene"
},
{
"created": "2020-04-05T13:38:12.898000+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IL2RB as Green List (high evidence)",
"entity_name": "IL2RB",
"entity_type": "gene"
},
{
"created": "2020-04-05T13:38:12.884823+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il2rb has been classified as Green List (High Evidence).",
"entity_name": "IL2RB",
"entity_type": "gene"
},
{
"created": "2020-04-05T13:37:43.908639+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL2RB was added\ngene: IL2RB was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: IL2RB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL2RB were set to 31040184; 31040185\nPhenotypes for gene: IL2RB were set to Immunodeficiency 63 with lymphoproliferation and autoimmunity, MIM#\t618495; Lymphoproliferation, lymphadenopathy, hepatosplenomegaly, autoimmune haemolytic anaemia, dermatitis, enteropathy, hypergammaglobulinaemia, recurrent viral (EBV, CMV) infections\nReview for gene: IL2RB was set to GREEN\nAdded comment: Five families reported. \nSources: Expert list",
"entity_name": "IL2RB",
"entity_type": "gene"
},
{
"created": "2020-04-05T13:33:09.670998+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP3D1 as ready",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2020-04-05T13:33:09.662201+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap3d1 has been classified as Red List (Low Evidence).",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2020-04-05T13:32:59.794515+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AP3D1 was added\ngene: AP3D1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: AP3D1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP3D1 were set to 26744459; 9697856\nPhenotypes for gene: AP3D1 were set to Hermansky-Pudlak syndrome 10, MIM#\t617050; Oculocutaneous albinism; Severe neutropaenia; Recurrent infections; Seizures; Hearing loss; Neurodevelopmental delay\nReview for gene: AP3D1 was set to RED\nAdded comment: Single family and a mouse model. \nSources: Expert list",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2020-04-05T12:59:42.044268+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP3D1 as ready",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2020-04-05T12:59:42.035201+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap3d1 has been classified as Red List (Low Evidence).",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2020-04-05T12:59:34.621151+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AP3D1 was added\ngene: AP3D1 was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: AP3D1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP3D1 were set to 26744459; 9697856\nPhenotypes for gene: AP3D1 were set to Hermansky-Pudlak syndrome 10, MIM#\t617050; Oculocutaneous albinism; Severe neutropaenia; Recurrent infections; Seizures; Hearing loss; Neurodevelopmental delay\nReview for gene: AP3D1 was set to RED\nAdded comment: Single family and a mouse model. \nSources: Expert list",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2020-04-05T12:50:29.349430+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC7A7 as ready",
"entity_name": "SLC7A7",
"entity_type": "gene"
},
{
"created": "2020-04-05T12:50:29.335866+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc7a7 has been classified as Green List (High Evidence).",
"entity_name": "SLC7A7",
"entity_type": "gene"
},
{
"created": "2020-04-05T12:50:25.673261+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC7A7 as Green List (high evidence)",
"entity_name": "SLC7A7",
"entity_type": "gene"
},
{
"created": "2020-04-05T12:50:25.664027+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc7a7 has been classified as Green List (High Evidence).",
"entity_name": "SLC7A7",
"entity_type": "gene"
},
{
"created": "2020-04-05T12:49:54.451268+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC7A7 was added\ngene: SLC7A7 was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance, MIM#\t222700; Hyper-inflammatory response of macrophages; Normal NK cell function; Lysinuric protein intolerance; Bleeding tendency; Alverolar proteinosis\nReview for gene: SLC7A7 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "SLC7A7",
"entity_type": "gene"
},
{
"created": "2020-04-05T12:46:26.876497+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1942",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAAP24 as ready",
"entity_name": "FAAP24",
"entity_type": "gene"
},
{
"created": "2020-04-05T12:46:26.867963+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1942",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: faap24 has been classified as Red List (Low Evidence).",
"entity_name": "FAAP24",
"entity_type": "gene"
},
{
"created": "2020-04-05T12:46:14.474096+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1942",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAAP24 was added\ngene: FAAP24 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: FAAP24 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAAP24 were set to 27473539\nPhenotypes for gene: FAAP24 were set to EBV infection-driven lymphoproliferative disease\nReview for gene: FAAP24 was set to RED\nAdded comment: Single sib pair with homozygous missense variant, some functional data. \nSources: Expert list",
"entity_name": "FAAP24",
"entity_type": "gene"
},
{
"created": "2020-04-05T12:43:51.345007+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAAP24 as ready",
"entity_name": "FAAP24",
"entity_type": "gene"
},
{
"created": "2020-04-05T12:43:51.331806+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: faap24 has been classified as Red List (Low Evidence).",
"entity_name": "FAAP24",
"entity_type": "gene"
},
{
"created": "2020-04-05T12:43:43.825839+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAAP24 was added\ngene: FAAP24 was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: FAAP24 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAAP24 were set to 27473539\nPhenotypes for gene: FAAP24 were set to EBV infection-driven lymphoproliferative disease\nReview for gene: FAAP24 was set to RED\nAdded comment: Single sib pair with homozygous missense variant, some functional data. \nSources: Expert list",
"entity_name": "FAAP24",
"entity_type": "gene"
},
{
"created": "2020-04-05T12:21:08.092957+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-04-05T12:18:33.775381+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAC2 as ready",
"entity_name": "RAC2",
"entity_type": "gene"
},
{
"created": "2020-04-05T12:18:33.762146+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rac2 has been classified as Green List (High Evidence).",
"entity_name": "RAC2",
"entity_type": "gene"
},
{
"created": "2020-04-05T12:18:30.270624+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAC2 as Green List (high evidence)",
"entity_name": "RAC2",
"entity_type": "gene"
},
{
"created": "2020-04-05T12:18:30.261933+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rac2 has been classified as Green List (High Evidence).",
"entity_name": "RAC2",
"entity_type": "gene"
},
{
"created": "2020-04-05T12:18:01.467057+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAC2 was added\ngene: RAC2 was added to Predominantly Antibody Deficiency. Sources: Expert list\nMode of inheritance for gene: RAC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAC2 were set to 32198141; 31919089; 31382036; 31071452; 30723080; 30654050\nPhenotypes for gene: RAC2 were set to SCID; recurrent bacterial and viral infections; lymphoproliferation; neutropaenia; reticular dysgenesis; deafness; selective IgA deficiency; Reduced Ab responses following vaccination\nReview for gene: RAC2 was set to GREEN\nAdded comment: GoF variants reported in at least 5 unrelated individuals, functional data including animal model. \nSources: Expert list",
"entity_name": "RAC2",
"entity_type": "gene"
},
{
"created": "2020-04-05T12:14:43.510429+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEC61A1 as ready",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2020-04-05T12:14:43.496840+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec61a1 has been classified as Green List (High Evidence).",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2020-04-05T12:14:37.854536+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEC61A1 as Green List (high evidence)",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2020-04-05T12:14:37.841075+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec61a1 has been classified as Green List (High Evidence).",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2020-04-05T12:14:08.789388+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEC61A1 was added\ngene: SEC61A1 was added to Predominantly Antibody Deficiency. Sources: Expert list\nMode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SEC61A1 were set to 27392076; 28782633\nPhenotypes for gene: SEC61A1 were set to Hyperuricemic nephropathy, familial juvenile, 4, MIM#\t617056; Hypogammaglobulinaemia; Severe recurrent respiratory tract infections\nReview for gene: SEC61A1 was set to GREEN\nAdded comment: Gene initially linked with renal phenotype in two families, inconsistent immunological findings (PMID 27392076). Further 11 individuals from two families reported in PMID: 28782633 with immunological phenotype. \nSources: Expert list",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2020-04-05T12:04:05.864274+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SH3KBP1 as ready",
"entity_name": "SH3KBP1",
"entity_type": "gene"
},
{
"created": "2020-04-05T12:04:05.851291+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sh3kbp1 has been classified as Red List (Low Evidence).",
"entity_name": "SH3KBP1",
"entity_type": "gene"
},
{
"created": "2020-04-05T12:03:56.237436+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: SH3KBP1.",
"entity_name": "SH3KBP1",
"entity_type": "gene"
},
{
"created": "2020-04-05T12:03:42.601200+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SH3KBP1 was added\ngene: SH3KBP1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: SH3KBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SH3KBP1 were set to 29636373; 21708930\nPhenotypes for gene: SH3KBP1 were set to Immunodeficiency 61, MIM#\t300310\nReview for gene: SH3KBP1 was set to RED\nAdded comment: Single family reported, 247.5-kb intragenic deletion detected by array. \nSources: Expert list",
"entity_name": "SH3KBP1",
"entity_type": "gene"
},
{
"created": "2020-04-05T12:01:54.942855+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SH3KBP1 as ready",
"entity_name": "SH3KBP1",
"entity_type": "gene"
},
{
"created": "2020-04-05T12:01:54.933347+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sh3kbp1 has been classified as Red List (Low Evidence).",
"entity_name": "SH3KBP1",
"entity_type": "gene"
},
{
"created": "2020-04-05T12:01:51.021309+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: SH3KBP1.",
"entity_name": "SH3KBP1",
"entity_type": "gene"
},
{
"created": "2020-04-05T12:01:40.397951+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SH3KBP1 was added\ngene: SH3KBP1 was added to Predominantly Antibody Deficiency. Sources: Expert list\nMode of inheritance for gene: SH3KBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SH3KBP1 were set to 29636373; 21708930\nPhenotypes for gene: SH3KBP1 were set to Immunodeficiency 61, MIM#\t300310\nReview for gene: SH3KBP1 was set to RED\nAdded comment: Single family reported, 247.5-kb intragenic deletion detected by array. Some functional data. \nSources: Expert list",
"entity_name": "SH3KBP1",
"entity_type": "gene"
},
{
"created": "2020-04-05T11:53:16.364455+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARHGEF1 as ready",
"entity_name": "ARHGEF1",
"entity_type": "gene"
},
{
"created": "2020-04-05T11:53:16.352001+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arhgef1 has been classified as Red List (Low Evidence).",
"entity_name": "ARHGEF1",
"entity_type": "gene"
},
{
"created": "2020-04-05T11:53:04.730766+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARHGEF1 was added\ngene: ARHGEF1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: ARHGEF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARHGEF1 were set to 30521495\nPhenotypes for gene: ARHGEF1 were set to Immunodeficiency 62, MIM#618459\nReview for gene: ARHGEF1 was set to RED\nAdded comment: Single family, functional data. \nSources: Expert list",
"entity_name": "ARHGEF1",
"entity_type": "gene"
},
{
"created": "2020-04-05T11:50:14.052734+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP6AP1 as ready",
"entity_name": "ATP6AP1",
"entity_type": "gene"
},
{
"created": "2020-04-05T11:50:14.039925+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6ap1 has been classified as Green List (High Evidence).",
"entity_name": "ATP6AP1",
"entity_type": "gene"
},
{
"created": "2020-04-05T11:50:05.759244+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP6AP1 were changed from to Immunodeficiency 47, MIM#300972; Hepatopathy; Leukopaenia; Low copper; Intellectual disability in some",
"entity_name": "ATP6AP1",
"entity_type": "gene"
},
{
"created": "2020-04-05T11:49:32.532663+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP6AP1 were set to ",
"entity_name": "ATP6AP1",
"entity_type": "gene"
},
{
"created": "2020-04-05T11:49:14.290471+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1937",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP6AP1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ATP6AP1",
"entity_type": "gene"
},
{
"created": "2020-04-05T11:47:50.301296+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP6AP1 were changed from Immunodeficiency 47, MIM#\t300972 to Immunodeficiency 47, MIM# 300972; Hepatopathy; Leukopenia; Low copper",
"entity_name": "ATP6AP1",
"entity_type": "gene"
},
{
"created": "2020-04-05T11:47:10.207137+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP6AP1: Changed phenotypes: Immunodeficiency 47, MIM# 300972, Hepatopathy, Leukopenia, Low copper",
"entity_name": "ATP6AP1",
"entity_type": "gene"
},
{
"created": "2020-04-05T11:45:58.130691+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP6AP1 as ready",
"entity_name": "ATP6AP1",
"entity_type": "gene"
},
{
"created": "2020-04-05T11:45:58.111984+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6ap1 has been classified as Green List (High Evidence).",
"entity_name": "ATP6AP1",
"entity_type": "gene"
},
{
"created": "2020-04-05T11:45:54.450709+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP6AP1 as Green List (high evidence)",
"entity_name": "ATP6AP1",
"entity_type": "gene"
},
{
"created": "2020-04-05T11:45:54.442127+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6ap1 has been classified as Green List (High Evidence).",
"entity_name": "ATP6AP1",
"entity_type": "gene"
},
{
"created": "2020-04-05T11:45:24.352888+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP6AP1 was added\ngene: ATP6AP1 was added to Predominantly Antibody Deficiency. Sources: Expert list\nMode of inheritance for gene: ATP6AP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ATP6AP1 were set to 27231034\nPhenotypes for gene: ATP6AP1 were set to Immunodeficiency 47, MIM#\t300972\nReview for gene: ATP6AP1 was set to GREEN\nAdded comment: 11 males from 6 unrelated families reported, four different variants. \nSources: Expert list",
"entity_name": "ATP6AP1",
"entity_type": "gene"
},
{
"created": "2020-04-05T11:43:00.727630+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IRF2BP2 as ready",
"entity_name": "IRF2BP2",
"entity_type": "gene"
},
{
"created": "2020-04-05T11:43:00.718727+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf2bp2 has been classified as Red List (Low Evidence).",
"entity_name": "IRF2BP2",
"entity_type": "gene"
},
{
"created": "2020-04-05T11:42:50.404150+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IRF2BP2 was added\ngene: IRF2BP2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: IRF2BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IRF2BP2 were set to 27016798\nPhenotypes for gene: IRF2BP2 were set to Immunodeficiency, common variable, 14, MIM#\t617765\nReview for gene: IRF2BP2 was set to RED\nAdded comment: Single family reported only. \nSources: Expert list",
"entity_name": "IRF2BP2",
"entity_type": "gene"
},
{
"created": "2020-04-05T11:40:01.944605+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IRF2BP2 as ready",
"entity_name": "IRF2BP2",
"entity_type": "gene"
},
{
"created": "2020-04-05T11:40:01.929240+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf2bp2 has been classified as Red List (Low Evidence).",
"entity_name": "IRF2BP2",
"entity_type": "gene"
},
{
"created": "2020-04-05T11:39:52.999906+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IRF2BP2 was added\ngene: IRF2BP2 was added to Predominantly Antibody Deficiency. Sources: Expert list\nMode of inheritance for gene: IRF2BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IRF2BP2 were set to 27016798\nPhenotypes for gene: IRF2BP2 were set to Immunodeficiency, common variable, 14, MIM#\t617765\nReview for gene: IRF2BP2 was set to RED\nAdded comment: Single family reported only. \nSources: Expert list",
"entity_name": "IRF2BP2",
"entity_type": "gene"
},
{
"created": "2020-04-05T11:34:55.013105+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IKZF1 as ready",
"entity_name": "IKZF1",
"entity_type": "gene"
},
{
"created": "2020-04-05T11:34:55.002333+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikzf1 has been classified as Green List (High Evidence).",
"entity_name": "IKZF1",
"entity_type": "gene"
},
{
"created": "2020-04-05T11:34:50.942790+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IKZF1 as Green List (high evidence)",
"entity_name": "IKZF1",
"entity_type": "gene"
},
{
"created": "2020-04-05T11:34:50.930131+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ikzf1 has been classified as Green List (High Evidence).",
"entity_name": "IKZF1",
"entity_type": "gene"
},
{
"created": "2020-04-05T11:34:20.795192+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IKZF1 was added\ngene: IKZF1 was added to Predominantly Antibody Deficiency. Sources: Expert list\nMode of inheritance for gene: IKZF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IKZF1 were set to 21548011; 26981933\nPhenotypes for gene: IKZF1 were set to Immunodeficiency, common variable, 13, MIM#\t616873; Low IgG, IgA, IgM, low or normal B cells; B cells and Ig levels reduce with age; Decreased pro-B cells; Recurrent sinopulmonary infections; Increased risk of ALL, autoimmunity\nReview for gene: IKZF1 was set to GREEN\nAdded comment: At least five unrelated families reported. \nSources: Expert list",
"entity_name": "IKZF1",
"entity_type": "gene"
},
{
"created": "2020-04-05T11:27:40.161672+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-04-04T15:15:37.985198+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3CD as ready",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2020-04-04T15:15:37.971058+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3cd has been classified as Green List (High Evidence).",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2020-04-04T15:15:30.602955+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3CD were changed from to Immunodeficiency 14, MIM# 615513",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2020-04-04T15:15:06.474946+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIK3CD were set to ",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2020-04-04T15:14:39.538092+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: PIK3CD was changed from to Other",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2020-04-04T15:14:14.546612+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIK3CD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2020-04-04T15:13:41.713884+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIK3CD: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24136356, 30018075, 24165795; Phenotypes: Immunodeficiency 14, MIM# 615513; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2020-04-04T15:10:09.353567+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TOP2B as ready",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2020-04-04T15:10:09.339900+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: top2b has been classified as Amber List (Moderate Evidence).",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2020-04-04T15:10:02.338148+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TOP2B as Amber List (moderate evidence)",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2020-04-04T15:10:02.324600+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: top2b has been classified as Amber List (Moderate Evidence).",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2020-04-04T15:09:28.900336+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TOP2B was added\ngene: TOP2B was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TOP2B were set to 31953910; 28343847; 12773624\nPhenotypes for gene: TOP2B were set to Intellectual disability\nReview for gene: TOP2B was set to AMBER\nAdded comment: Two unrelated individuals reported with the same de novo variant, c.187C > T, p.(His63Tyr) and also mouse model data supports role in brain development. Gene has also been associated independently with deafness and with immunodeficiency and the variant-disease relationship remains to be fully elucidated. \nSources: Expert list",
"entity_name": "TOP2B",
"entity_type": "gene"
},
{
"created": "2020-04-04T15:04:43.308500+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1935",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TOP2B were changed from Autosomal dominant deafness to Autosomal dominant deafness; Antibody deficiency, recurrent infections, facial dysmorphism, limb anomalies; Intellectual disability",
"entity_name": "TOP2B",
"entity_type": "gene"
}
]
}