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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1097",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1095",
"results": [
{
"created": "2021-12-06T16:45:01.772970+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.995",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: NAGA as ready",
"entity_name": "NAGA",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:45:01.761719+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.995",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: naga has been classified as Amber List (Moderate Evidence).",
"entity_name": "NAGA",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:44:57.167920+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10116",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: At least 43 cases with biallelic variants (7 different variants) from 17 consanguineous families reported. \nSources: Literature; to: At least 43 cases with biallelic variants (7 different variants) from 17 mainly consanguineous families reported. \r\nSources: Literature",
"entity_name": "LACC1",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:44:24.458774+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.995",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: CFAP43 as ready",
"entity_name": "CFAP43",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:44:24.448648+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.995",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: cfap43 has been classified as Red List (Low Evidence).",
"entity_name": "CFAP43",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:44:15.988164+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.995",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: CFAP43 as Red List (low evidence)",
"entity_name": "CFAP43",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:44:15.978656+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.995",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: cfap43 has been classified as Red List (Low Evidence).",
"entity_name": "CFAP43",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:44:13.444958+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAI3 as ready",
"entity_name": "GNAI3",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:44:13.434387+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnai3 has been classified as Green List (High Evidence).",
"entity_name": "GNAI3",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:43:51.366828+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNAI3 were changed from AURICULOCONDYLAR SYNDROME to Auriculocondylar syndrome 1, OMIM #602483",
"entity_name": "GNAI3",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:43:38.895179+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNAI3 were set to ",
"entity_name": "GNAI3",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:43:15.590682+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLUL as ready",
"entity_name": "GLUL",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:43:15.580804+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glul has been classified as Green List (High Evidence).",
"entity_name": "GLUL",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:43:11.684180+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLUL were changed from CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY to Glutamine deficiency, congenital MIM#610015",
"entity_name": "GLUL",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:42:59.628916+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLUL were set to ",
"entity_name": "GLUL",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:42:43.188320+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GLUL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutamine deficiency, congenital MIM#610015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLUL",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:42:12.700693+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.990",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: NAGA were changed from SCHINDLER DISEASE; KANZAKI DISEASE to Kanzaki disease (MIM# 609242); Schindler disease, type I and type II (MIM#609241); alpha-N-acetylgalactosaminidase deficiency (MONDO:0017779)",
"entity_name": "NAGA",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:41:53.376661+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.989",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: NAGA were set to ",
"entity_name": "NAGA",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:41:40.039423+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.988",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: NAGA as Amber List (moderate evidence)",
"entity_name": "NAGA",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:41:40.035182+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.988",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Only one description of microcephaly",
"entity_name": "NAGA",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:41:39.991811+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.988",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: naga has been classified as Amber List (Moderate Evidence).",
"entity_name": "NAGA",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:41:03.703689+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNAI3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAI3",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:40:25.978101+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10116",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: LACC1 as ready",
"entity_name": "LACC1",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:40:25.965562+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10116",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lacc1 has been classified as Green List (High Evidence).",
"entity_name": "LACC1",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:40:23.324533+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRWD1 as ready",
"entity_name": "BRWD1",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:40:23.315461+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brwd1 has been classified as Red List (Low Evidence).",
"entity_name": "BRWD1",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:40:16.107771+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BRWD1 as Red List (low evidence)",
"entity_name": "BRWD1",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:40:16.098500+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brwd1 has been classified as Red List (Low Evidence).",
"entity_name": "BRWD1",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:40:01.114329+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BRWD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Situs inversus, primary ciliary dyskinesia like; Mode of inheritance: None",
"entity_name": "BRWD1",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:39:18.847842+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10116",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: LACC1 as Green List (high evidence)",
"entity_name": "LACC1",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:39:18.838838+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10116",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lacc1 has been classified as Green List (High Evidence).",
"entity_name": "LACC1",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:38:53.000333+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYH9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:37:38.657940+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNPAT as ready",
"entity_name": "GNPAT",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:37:38.646803+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnpat has been classified as Green List (High Evidence).",
"entity_name": "GNPAT",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:37:33.648370+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNPAT were changed from RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 to Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765; MONDO:0009112",
"entity_name": "GNPAT",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:37:20.175952+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNPAT were set to ",
"entity_name": "GNPAT",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:37:16.278190+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10115",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LACC1 was added\ngene: LACC1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: LACC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LACC1 were set to 25220867; 27881174; 30872671; 33718577\nPhenotypes for gene: LACC1 were set to Juvenile arthritis MIM#618795\nReview for gene: LACC1 was set to GREEN\nAdded comment: At least 43 cases with biallelic variants (7 different variants) from 17 consanguineous families reported. \nSources: Literature",
"entity_name": "LACC1",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:36:46.557920+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.982",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: SCNN1G was added\ngene: SCNN1G was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: SCNN1G was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCNN1G were set to 8640238; 11231969; 31522814; 7633160\nPhenotypes for gene: SCNN1G were set to Pseudohypoaldosteronism, type I - MIM#264350\nReview for gene: SCNN1G was set to AMBER\nAdded comment: PMID 8640238 - same 3′ splice site mutation in SCNN1G identified in 3 unrelated families from the Indian subcontinent presenting with severe generalised PHA ?founder mutation\r\n\r\nPMID 11231969 - compound het in Japanese child diagnosed as neonate\r\n\r\nPMID 31522814 - homozygous variant identified in neonate presenting with nephropathy\r\n\r\nPMID 7633160 (1995) - PHA reported as likely cause of severe polyhydramnios in 5 patients from 3 unrelated families - not genotyped.\r\n\r\nSCNN1G related PHA rare diagnosis, possible to present as severe polyhydramnios. Early diagnosis beneficial as PHA can be a life-threatening condition in the neonatal period with therapeutic options available. \nSources: Literature",
"entity_name": "SCNN1G",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:36:43.012854+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYH9 as ready",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:36:43.003572+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myh9 has been classified as Red List (Low Evidence).",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:36:38.396743+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYH9 were changed from MAY-HEGGLIN ANOMALY; FECHTNER SYNDROME; EPSTEIN SYNDROME; MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS; SEBASTIAN SYNDROME; DEAFNESS AUTOSOMAL DOMINANT TYPE 17 to Deafness, autosomal dominant 17 (MIM#603622); Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MIM#155100)",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:36:09.472696+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIM27 as ready",
"entity_name": "TRIM27",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:36:09.461970+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trim27 has been classified as Red List (Low Evidence).",
"entity_name": "TRIM27",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:35:57.904661+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIM27 were changed from to parkinson's disease",
"entity_name": "TRIM27",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:35:36.008609+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYH9 were set to ",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:35:28.801123+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRIM27 as Red List (low evidence)",
"entity_name": "TRIM27",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:35:28.784495+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trim27 has been classified as Red List (Low Evidence).",
"entity_name": "TRIM27",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:34:40.786352+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CR1 as ready",
"entity_name": "CR1",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:34:40.777828+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cr1 has been classified as Red List (Low Evidence).",
"entity_name": "CR1",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:34:39.460386+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYH9 as Red List (low evidence)",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:34:39.451090+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myh9 has been classified as Red List (Low Evidence).",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:34:26.437489+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYH9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:32:18.471285+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CR1 as Red List (low evidence)",
"entity_name": "CR1",
"entity_type": "gene"
},
{
"created": "2021-12-06T16:32:18.462397+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cr1 has been classified as Red List (Low Evidence).",
"entity_name": "CR1",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:46:00.218990+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.274",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: XRCC4 as ready",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:46:00.207272+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.274",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: xrcc4 has been classified as Red List (Low Evidence).",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:45:52.084542+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.274",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: XRCC4 was added\ngene: XRCC4 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: XRCC4 were set to 25742519; 34794894\nPhenotypes for gene: XRCC4 were set to Short stature, microcephaly, and endocrine dysfunction MIM#616541\nReview for gene: XRCC4 was set to RED\nAdded comment: A single female case with a homozygous variant has been reported with hypogonadism as a feature of the condition. \nSources: Literature",
"entity_name": "XRCC4",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:38:19.835290+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.273",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: WDR62 as ready",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:38:19.824276+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.273",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: wdr62 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:38:09.398220+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.273",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: WDR62 as Amber List (moderate evidence)",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:38:09.388907+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.273",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: wdr62 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:38:01.435765+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.272",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: WDR62 was added\ngene: WDR62 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: WDR62 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WDR62 were set to 34794894; 30102701\nPhenotypes for gene: WDR62 were set to Primary ovarian insufficiency\nReview for gene: WDR62 was set to AMBER\nAdded comment: Two unrelated cases with primary amenorrhea were heterozygous for a missense (p.Cys599Tyr) and a frameshift (p.Thr1068fs) variant that demonstrated a dominant-negative effect on STRA8 expression. Wdr62 -/- mice were completely infertile with reduced ovary size and absent ovarian follicles in females. \nSources: Literature",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:27:34.380773+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.271",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: UBR2 as ready",
"entity_name": "UBR2",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:27:34.371444+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.271",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ubr2 has been classified as Red List (Low Evidence).",
"entity_name": "UBR2",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:27:27.571481+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.271",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: UBR2 was added\ngene: UBR2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: UBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UBR2 were set to 33095795; 34794894\nPhenotypes for gene: UBR2 were set to Primary ovarian failure\nReview for gene: UBR2 was set to RED\nAdded comment: Single POI case with a heterozygous missense variant (p.Ser1615Thr). \nSources: Literature",
"entity_name": "UBR2",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:25:12.567341+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASTL as ready",
"entity_name": "ASTL",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:25:12.554613+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: astl has been classified as Red List (Low Evidence).",
"entity_name": "ASTL",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:25:01.535779+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASTL was added\ngene: ASTL was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: ASTL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASTL were set to 34704130\nPhenotypes for gene: ASTL were set to Oocyte maturation defect 11, MIM#\t619643\nReview for gene: ASTL was set to RED\nAdded comment: Oocyte maturation defect-11 (OOMD11) is characterized by reduced or absent fertility and poor embryonic outcomes with assisted reproductive technology. Single family with two affected siblings reported. \nSources: Expert list",
"entity_name": "ASTL",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:21:58.735510+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TERB2 as ready",
"entity_name": "TERB2",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:21:58.724985+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: terb2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TERB2",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:21:46.470941+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TERB2 as Amber List (moderate evidence)",
"entity_name": "TERB2",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:21:46.461174+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: terb2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TERB2",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:21:15.466376+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TERB2 was added\ngene: TERB2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TERB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TERB2 were set to 33211200\nPhenotypes for gene: TERB2 were set to Spermatogenic failure 59, MIM#\t619645\nReview for gene: TERB2 was set to AMBER\nAdded comment: One family with three affected siblings; mouse model. \nSources: Literature",
"entity_name": "TERB2",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:17:50.674611+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCAS3 as ready",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:17:50.665069+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcas3 has been classified as Green List (High Evidence).",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:17:47.125502+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10108",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SPIDR as Amber List (moderate evidence)",
"entity_name": "SPIDR",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:17:47.115428+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10108",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: spidr has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPIDR",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:17:45.337131+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BCAS3 as Green List (high evidence)",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:17:45.328283+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcas3 has been classified as Green List (High Evidence).",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:17:32.348394+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BCAS3 was added\ngene: BCAS3 was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BCAS3 were set to 34022130\nPhenotypes for gene: BCAS3 were set to Hengel-Maroofian-Schols syndrome, MIM# 619641\nReview for gene: BCAS3 was set to GREEN\nAdded comment: 15 individuals from eight unrelated families with germline bi-allelic loss-of-function variants in BCAS3. All probands share a global developmental delay accompanied by pyramidal tract involvement, microcephaly, short stature, strabismus, dysmorphic facial features, and seizures. Patient fibroblasts confirmed absence of BCAS3 protein. All patients had hyperreflexia, spasticity. \r\n\r\nMicrocephaly and CC abnormalities may be detectable antenatally. \nSources: Expert Review",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:16:41.168481+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10107",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SPIDR was added\ngene: SPIDR was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SPIDR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPIDR were set to 34794894; 34697795; 27967308\nPhenotypes for gene: SPIDR were set to Primary ovarian insufficiency\nReview for gene: SPIDR was set to AMBER\nAdded comment: 3 POI cases from 2 unrelated families with homozygous nonsense variants, and in vitro functional assays demonstrating both variants alter SPIDR activity in homologous recombination. \nSources: Literature",
"entity_name": "SPIDR",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:15:43.130574+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.270",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SPIDR as ready",
"entity_name": "SPIDR",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:15:43.120378+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.270",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: spidr has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPIDR",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:15:38.143483+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.270",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SPIDR as Amber List (moderate evidence)",
"entity_name": "SPIDR",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:15:38.133745+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.270",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: spidr has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPIDR",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:15:31.269428+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.269",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SPIDR was added\ngene: SPIDR was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: SPIDR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPIDR were set to 34794894; 34697795; 27967308\nPhenotypes for gene: SPIDR were set to Primary ovarian insufficiency\nReview for gene: SPIDR was set to AMBER\nAdded comment: 3 POI cases from 2 unrelated families with homozygous nonsense variants, and in vitro functional assays demonstrating both variants alter SPIDR activity in homologous recombination. \nSources: Literature",
"entity_name": "SPIDR",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:15:15.896229+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCAS3 were changed from Syndromic neurodevelopmental disorder to Hengel-Maroofian-Schols syndrome, MIM# 619641",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:15:02.060100+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCAS3 were changed from Syndromic neurodevelopmental disorder to Hengel-Maroofian-Schols syndrome, MIM# 619641",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:14:59.592282+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BCAS3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hengel-Maroofian-Schols syndrome, MIM# 619641; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:14:34.083011+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BCAS3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hengel-Maroofian-Schols syndrome, MIM# 619641; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:14:08.700276+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCAS3 were changed from Syndromic neurodevelopmental disorder to Hengel-Maroofian-Schols syndrome, MIM# 619641",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:13:36.579979+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BCAS3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hengel-Maroofian-Schols syndrome, MIM# 619641; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:13:30.509536+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCAS3 were changed from Syndromic neurodevelopmental disorder to Hengel-Maroofian-Schols syndrome, MIM# 619641",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:12:52.859432+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BCAS3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hengel-Maroofian-Schols syndrome, MIM# 619641; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:12:36.471495+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCAS3 were changed from Syndromic neurodevelopmental disorder to Hengel-Maroofian-Schols syndrome, MIM# 619641",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:12:11.054370+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BCAS3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hengel-Maroofian-Schols syndrome, MIM# 619641; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:11:52.193874+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCAS3 were changed from Syndromic neurodevelopmental disorder to Hengel-Maroofian-Schols syndrome, MIM# 619641",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:11:29.664348+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BCAS3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hengel-Maroofian-Schols syndrome, MIM# 619641; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCAS3",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:07:04.390198+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.268",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: BLM as ready",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2021-12-06T15:07:04.380132+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.268",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: blm has been classified as Green List (High Evidence).",
"entity_name": "BLM",
"entity_type": "gene"
}
]
}