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{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1001",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=999",
"results": [
{
"created": "2022-02-10T13:00:04.239054+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grin2d has been classified as Red List (Low Evidence).",
"entity_name": "GRIN2D",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:59:31.734761+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Five unrelated individuals reported, two with recurrent variant (NM_000836.2:c.1999G>A or p.Val667Ile). GoF postulated as mechanism. \nSources: Expert list; to: Five unrelated individuals reported, two with recurrent variant (NM_000836.2:c.1999G>A or p.Val667Ile). GoF postulated as mechanism.\r\n\r\nClinical presentation is typically post-natal.\r\n\r\nSources: Expert list",
"entity_name": "GRIN2D",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:59:10.320620+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GRIN2D: Changed rating: RED",
"entity_name": "GRIN2D",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:55:27.830728+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRHL2 as ready",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:55:27.819611+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grhl2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:55:23.569027+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRHL2 were changed from ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME to Ectodermal dysplasia/short stature syndrome MIM#616029",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:55:09.024201+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRHL2 were set to ",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:54:52.320710+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GRHL2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ectodermal dysplasia/short stature syndrome MIM#616029; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GRHL2",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:48:30.461122+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPAA1 as ready",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:48:30.447639+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpaa1 has been classified as Red List (Low Evidence).",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:48:25.883136+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPAA1 were changed from Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia to Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:48:13.385988+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPAA1 were set to ",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:48:00.521373+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GPAA1 as Red List (low evidence)",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:48:00.495899+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpaa1 has been classified as Red List (Low Evidence).",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:47:47.913519+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least 5 unrelated families reported with bi-allelic variants in this gene and delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.; to: At least 5 unrelated families reported with bi-allelic variants in this gene and delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.\r\n\r\nClinical presentation is typically post-natal.",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:47:30.379494+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GPAA1: Changed rating: RED",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:34:04.272047+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Research",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-02-10T12:31:24.120461+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UQCC2 as ready",
"entity_name": "UQCC2",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:31:24.107946+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uqcc2 has been classified as Green List (High Evidence).",
"entity_name": "UQCC2",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:31:17.459298+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UQCC2 as Green List (high evidence)",
"entity_name": "UQCC2",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:31:17.440612+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uqcc2 has been classified as Green List (High Evidence).",
"entity_name": "UQCC2",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:30:37.773500+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL27 as ready",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:30:37.763409+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl27 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:30:35.144081+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPL27 were set to ",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:30:26.668728+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPL27 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:30:18.670687+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPL27 as Amber List (moderate evidence)",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:30:18.661022+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl27 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:29:42.668749+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL26 as ready",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:29:42.659362+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl26 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:29:39.469317+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPL26 were set to ",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:29:30.821181+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: RPL26 was changed from to None",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:29:14.827750+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPL26 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:29:08.752910+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPL26 as Amber List (moderate evidence)",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:29:08.741377+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl26 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:28:30.041809+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CPS1 as ready",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:28:30.029069+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cps1 has been classified as Red List (Low Evidence).",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:28:25.122479+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CPS1 were changed from CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY to Carbamoylphosphate synthetase I deficiency MIM#237300",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:28:11.196604+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CPS1 were set to ",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:27:53.170196+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CPS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Carbamoylphosphate synthetase I deficiency MIM#237300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:12:32.169195+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCM as ready",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:12:32.158273+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancm has been classified as Amber List (Moderate Evidence).",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:12:28.890012+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCM were changed from Fanconi anaemia to FA-like syndromes, chemotherapy toxicity",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:12:07.776266+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCM were set to ",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:11:57.145859+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FANCM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:11:48.300727+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FANCM as Amber List (moderate evidence)",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:11:48.289662+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancm has been classified as Amber List (Moderate Evidence).",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:08:22.774782+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUMO1 as ready",
"entity_name": "SUMO1",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:08:22.763329+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sumo1 has been classified as Red List (Low Evidence).",
"entity_name": "SUMO1",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:08:10.334231+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUMO1 were changed from to Cleft lip and palate",
"entity_name": "SUMO1",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:07:42.589316+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10942",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SUMO1 were set to ",
"entity_name": "SUMO1",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:07:21.654552+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SUMO1 as Red List (low evidence)",
"entity_name": "SUMO1",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:07:21.645578+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sumo1 has been classified as Red List (Low Evidence).",
"entity_name": "SUMO1",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:06:18.507914+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CXCR4 as ready",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:06:18.495970+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cxcr4 has been classified as Green List (High Evidence).",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:06:15.206468+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CXCR4 were set to ",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2022-02-10T12:05:56.251865+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CXCR4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2022-02-10T11:02:19.986702+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3235",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: UQCC2 was added\ngene: UQCC2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: UQCC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UQCC2 were set to 24385928; 28804536\nPhenotypes for gene: UQCC2 were set to Mitochondrial complex III deficiency, nuclear type 7 - MIM#615824\nReview for gene: UQCC2 was set to GREEN\nAdded comment: Biallelic variants associated with mitochondrial complex III deficiency. 2 unrelated families and variant-specific functional evidence/segregation information provided.\r\n\r\nPMID 24385928 Tucker et al 2013 - report a patient with homozygous splice site UQCC2 variants. Presented with severe intrauterine growth retardation, neonatal lactic acidosis and renal tubular dysfunction of consanguineous Lebanese ancestry. Supportive functional studies including using patient fibroblasts.\r\n\r\nPMID: 28804536 Feichtinger et al 2017 - report a second unrelated patient of consanguineous Turkish ancestry with UQCC2 deficiency, a female infant born at 32 weeks gestation after a a pregnancy complicated by IUGR and oligohydramnios. Followed by a fulminant postnatal course including respiratory distress syndrome, developed epileptic seizures progressing to status epilepticus, profound lactic acidosis with elevated urinary pyruvate and death at day 33 of life. Homozygous missense UQCC2 variants identified leading to a severe reduction of UQCC2 protein in patient's muscle and fibroblast cells. \nSources: Literature",
"entity_name": "UQCC2",
"entity_type": "gene"
},
{
"created": "2022-02-10T10:56:46.764017+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.2",
"user_name": "vahid pazhakh",
"item_type": "entity",
"text": "reviewed gene: RPS27: Rating: AMBER; Mode of pathogenicity: None; Publications: Publications (PMID: 25424902); Phenotypes: Diamond-Blackfan anemia 17, MIM# 617409; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPS27",
"entity_type": "gene"
},
{
"created": "2022-02-10T10:52:57.424373+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.2",
"user_name": "vahid pazhakh",
"item_type": "entity",
"text": "reviewed gene: RPL27: Rating: AMBER; Mode of pathogenicity: None; Publications: Publications (PMID: 25424902); Phenotypes: Diamond-Blackfan anemia 16, MIM# 617408; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2022-02-10T10:49:05.542147+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.2",
"user_name": "vahid pazhakh",
"item_type": "entity",
"text": "reviewed gene: RPL26: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: Publications (PMID: 22431104); Phenotypes: Diamond-Blackfan anemia 11, MIM# 614900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2022-02-10T10:46:19.826338+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10940",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: CPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8486760, 17310273, 21120950; Phenotypes: Carbamoylphosphate synthetase I deficiency MIM#237300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2022-02-10T10:46:14.395586+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3235",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: CPS1: Rating: RED; Mode of pathogenicity: None; Publications: 8486760, 17310273, 21120950; Phenotypes: Carbamoylphosphate synthetase I deficiency MIM#237300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2022-02-10T10:43:11.180666+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.2",
"user_name": "vahid pazhakh",
"item_type": "entity",
"text": "reviewed gene: FANCM: Rating: AMBER; Mode of pathogenicity: None; Publications: Publications (PMID: 28837162, 28837157, 34793962, 31942822, 19423727, 19561169, 25010009); Phenotypes: FA-like syndromes, mainly characterized by increased risk for breast and other types of cancer, and chemotherapy toxicity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2022-02-10T10:42:21.251607+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10940",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: SUMO1: Rating: RED; Mode of pathogenicity: None; Publications: 25111678, 18983974, 22522387; Phenotypes: cleft lip and palate; Mode of inheritance: None",
"entity_name": "SUMO1",
"entity_type": "gene"
},
{
"created": "2022-02-10T10:28:49.111587+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.2",
"user_name": "vahid pazhakh",
"item_type": "entity",
"text": "reviewed gene: CXCR4: Rating: GREEN; Mode of pathogenicity: None; Publications: Publications (PMID: 12692554, 15536153, 23009155, 18274673, 28928741, 16946301, 17715292); Phenotypes: WHIM syndrome, MIM# 193670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:35:07.306913+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNB5 as ready",
"entity_name": "GNB5",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:35:07.295605+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnb5 has been classified as Red List (Low Evidence).",
"entity_name": "GNB5",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:34:38.738426+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNB5 were changed from Sinus Bradycardia and Cognitive Disability to Intellectual developmental disorder with cardiac arrhythmia, 617173; Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182; Early infantile epileptic encephalopathy (EIEE)",
"entity_name": "GNB5",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:34:22.514345+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNB5 were set to ",
"entity_name": "GNB5",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:34:08.711657+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNB5 as Red List (low evidence)",
"entity_name": "GNB5",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:34:08.702764+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnb5 has been classified as Red List (Low Evidence).",
"entity_name": "GNB5",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:33:56.721756+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple affected individuals reported. \nSources: Expert list; to: Presentation is typically post-natal.\r\n\r\nSources: Expert list",
"entity_name": "GNB5",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:33:12.312996+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GNB5: Changed rating: RED",
"entity_name": "GNB5",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:31:52.701358+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAQ as ready",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:31:52.690193+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnaq has been classified as Red List (Low Evidence).",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:31:36.051271+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNAQ were changed from Congenital Hemangioma to Sturge-Weber syndrome, somatic, mosaic, MIM#185300",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:31:10.404583+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNAQ was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:30:48.427641+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNAQ as Red List (low evidence)",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:30:48.414074+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnaq has been classified as Red List (Low Evidence).",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:30:36.346096+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: ID can be part of the phenotype; however this condition is due to somatic mosaic gain of function variants so there may be issues with detection depending on tissue used and sequencing depth.; to: This condition is due to somatic mosaic gain of function variants so there may be issues with detection depending on tissue used and sequencing depth.",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:30:11.187248+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GNAQ: Changed rating: RED",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:24:09.627339+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAI1 as ready",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:24:09.617058+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnai1 has been classified as Red List (Low Evidence).",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:23:50.738914+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNAI1 were changed from GNAI1 syndrome to GNAI1 syndrome; Developmental delay, seizures, and hypotonia",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:23:34.818056+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNAI1 were set to ",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:23:11.078049+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNAI1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:23:00.353378+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNAI1 as Red List (low evidence)",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:23:00.339596+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnai1 has been classified as Red List (Low Evidence).",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:22:46.056242+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 7 de novo missense and 1 PTV variants reported in the DDD paper Table 1.; to: 7 de novo missense and 1 PTV variants reported in the DDD paper Table 1. Typically presents post-natally.",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:21:45.134943+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GNAI1: Changed rating: RED",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:16:09.923409+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNA14 as ready",
"entity_name": "GNA14",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:16:09.912152+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gna14 has been classified as Red List (Low Evidence).",
"entity_name": "GNA14",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:16:01.632623+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNA14 as Red List (low evidence)",
"entity_name": "GNA14",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:16:01.620806+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gna14 has been classified as Red List (Low Evidence).",
"entity_name": "GNA14",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:14:34.296288+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GMNN as ready",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:14:34.279920+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gmnn has been classified as Green List (High Evidence).",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:14:23.512038+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GMNN were set to ",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:14:02.257122+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GMNN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:13:45.426807+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GMNN as Green List (high evidence)",
"entity_name": "GMNN",
"entity_type": "gene"
},
{
"created": "2022-02-09T17:13:45.414035+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gmnn has been classified as Green List (High Evidence).",
"entity_name": "GMNN",
"entity_type": "gene"
}
]
}