HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=860",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=858",
"results": [
{
"created": "2022-05-04T16:39:02.573067+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hrg has been classified as Green List (High Evidence).",
"entity_name": "HRG",
"entity_type": "gene"
},
{
"created": "2022-05-04T16:30:47.114774+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HRG was added\ngene: HRG was added to Bleeding and Platelet Disorders. Sources: Expert Review\nMode of inheritance for gene: HRG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HRG were set to 8236132; 11057869; 11057869; 29108964\nPhenotypes for gene: HRG were set to Thrombophilia 11 due to HRG deficiency, MIM# 613116\nReview for gene: HRG was set to GREEN\nAdded comment: Established gene-disease association. \nSources: Expert Review",
"entity_name": "HRG",
"entity_type": "gene"
},
{
"created": "2022-05-04T16:29:21.030981+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13713",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HRG as ready",
"entity_name": "HRG",
"entity_type": "gene"
},
{
"created": "2022-05-04T16:29:21.019924+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13713",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hrg has been classified as Green List (High Evidence).",
"entity_name": "HRG",
"entity_type": "gene"
},
{
"created": "2022-05-04T16:29:11.222642+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13713",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HRG were changed from to Thrombophilia 11 due to HRG deficiency, MIM# 613116",
"entity_name": "HRG",
"entity_type": "gene"
},
{
"created": "2022-05-04T16:28:49.415217+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HRG were set to ",
"entity_name": "HRG",
"entity_type": "gene"
},
{
"created": "2022-05-04T16:28:04.416870+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13711",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HRG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HRG",
"entity_type": "gene"
},
{
"created": "2022-05-04T16:27:44.111709+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13710",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HRG: Rating: GREEN; Mode of pathogenicity: None; Publications: 8236132, 11057869, 11057869, 29108964; Phenotypes: Thrombophilia 11 due to HRG deficiency, MIM# 613116; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HRG",
"entity_type": "gene"
},
{
"created": "2022-05-04T16:22:37.489020+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13710",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HP as ready",
"entity_name": "HP",
"entity_type": "gene"
},
{
"created": "2022-05-04T16:22:37.476853+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13710",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hp has been classified as Red List (Low Evidence).",
"entity_name": "HP",
"entity_type": "gene"
},
{
"created": "2022-05-04T16:22:10.034920+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13710",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HP were changed from to [Anhaptoglobinemia] 614081; [Hypohaptoglobinemia] 614081",
"entity_name": "HP",
"entity_type": "gene"
},
{
"created": "2022-05-04T16:21:36.097312+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13709",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HP as Red List (low evidence)",
"entity_name": "HP",
"entity_type": "gene"
},
{
"created": "2022-05-04T16:21:36.086618+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13709",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hp has been classified as Red List (Low Evidence).",
"entity_name": "HP",
"entity_type": "gene"
},
{
"created": "2022-05-04T16:21:13.272348+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Anhaptoglobinemia] 614081, [Hypohaptoglobinemia] 614081; Mode of inheritance: None",
"entity_name": "HP",
"entity_type": "gene"
},
{
"created": "2022-05-04T16:18:28.350466+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HOXD13 as ready",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2022-05-04T16:18:28.336883+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxd13 has been classified as Green List (High Evidence).",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2022-05-04T16:18:16.388653+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HOXD13 were changed from to Brachydactyly, type E 113300 Brachydactyly, type D, MIM# 113200; Syndactyly, type V, MIM# 186300; Synpolydactyly 1, MIM# 186000; Brachydactyly-syndactyly syndrome, MIM# 610713",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2022-05-04T16:12:35.551736+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HOXD13 were set to ",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2022-05-04T16:12:12.879099+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HOXD13 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2022-05-04T16:11:52.601894+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HOXD13: Rating: GREEN; Mode of pathogenicity: None; Publications: 34777468, 32509852; Phenotypes: Brachydactyly, type E 113300 Brachydactyly, type D, MIM# 113200, Syndactyly, type V, MIM# 186300, Synpolydactyly 1, MIM# 186000, Brachydactyly-syndactyly syndrome, MIM# 610713; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2022-05-04T16:06:01.939588+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HOXA13 as ready",
"entity_name": "HOXA13",
"entity_type": "gene"
},
{
"created": "2022-05-04T16:06:01.924728+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxa13 has been classified as Green List (High Evidence).",
"entity_name": "HOXA13",
"entity_type": "gene"
},
{
"created": "2022-05-04T16:05:50.669135+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HOXA13 were changed from to Hand-foot-uterus syndrome, MIM# 140000",
"entity_name": "HOXA13",
"entity_type": "gene"
},
{
"created": "2022-05-04T16:05:19.603570+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HOXA13 were set to ",
"entity_name": "HOXA13",
"entity_type": "gene"
},
{
"created": "2022-05-04T16:04:55.911996+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HOXA13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HOXA13",
"entity_type": "gene"
},
{
"created": "2022-05-04T16:04:34.138013+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HOXA13: Rating: GREEN; Mode of pathogenicity: None; Publications: 10839976, 9020844; Phenotypes: Hand-foot-uterus syndrome, MIM# 140000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HOXA13",
"entity_type": "gene"
},
{
"created": "2022-05-04T16:01:48.158173+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HOXA1 as ready",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2022-05-04T16:01:48.147074+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxa1 has been classified as Green List (High Evidence).",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2022-05-04T16:01:37.951361+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HOXA1 were changed from to Athabaskan brainstem dysgenesis syndrome MIM#601536; Bosley-Salih-Alorainy syndrome MIM#601536",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2022-05-04T16:01:16.778458+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HOXA1 were set to ",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2022-05-04T16:00:53.837052+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13700",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HOXA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2022-05-04T16:00:33.893354+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: At least 10 families reported.\r\n\r\n175-176insG is known as the Saudi Arabian variant, while 76C>T is known as the Native American variant.\r\n\r\nFeatures include:\r\nConotruncal heart defects, Abnormalities of the internal carotid artery and other cerebral arteries, Abnormal skull base\r\n\r\nBiallelic variants in this gene cause a syndrome affecting hindbrain development, with BSAS and ABDS allelic disorders.; to: Biallelic variants in this gene cause a syndrome affecting hindbrain development, with BSAS and ABDS allelic disorders.\r\n\r\nAt least 10 families reported.\r\n\r\n175-176insG is known as the Saudi Arabian variant, while 76C>T is known as the Native American variant.\r\n\r\nFeatures include:\r\nConotruncal heart defects, Abnormalities of the internal carotid artery and other cerebral arteries, Abnormal skull base\r\n\r\n",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2022-05-04T16:00:18.421637+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HOXA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16155570, 18412118, 32864817; Phenotypes: Athabaskan brainstem dysgenesis syndrome MIM#601536, Bosley-Salih-Alorainy syndrome MIM#601536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:46:56.644124+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HNRNPA1 as ready",
"entity_name": "HNRNPA1",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:46:56.632776+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnrnpa1 has been classified as Green List (High Evidence).",
"entity_name": "HNRNPA1",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:46:54.162130+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNRNPA1 were changed from to Amyotrophic lateral sclerosis 20 MIM#615426",
"entity_name": "HNRNPA1",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:46:18.797157+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HNRNPA1 were set to ",
"entity_name": "HNRNPA1",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:45:01.992529+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HNRNPA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNRNPA1",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:44:23.427553+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HNRNPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23455423, 34291734; Phenotypes: Amyotrophic lateral sclerosis 20 MIM#615426; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNRNPA1",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:43:32.959828+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HNRNPA1 as ready",
"entity_name": "HNRNPA1",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:43:32.948270+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnrnpa1 has been classified as Green List (High Evidence).",
"entity_name": "HNRNPA1",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:42:44.445667+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNRNPA1 were changed from to Amyotrophic lateral sclerosis 20 MIM#615426",
"entity_name": "HNRNPA1",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:42:22.497857+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HNRNPA1 were set to ",
"entity_name": "HNRNPA1",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:42:01.159418+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13697",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HNRNPA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNRNPA1",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:41:14.966881+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HNRNPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23455423, 34291734; Phenotypes: Amyotrophic lateral sclerosis 20 MIM#615426; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNRNPA1",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:37:01.480472+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HNF4A as ready",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:37:01.465318+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnf4a has been classified as Green List (High Evidence).",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:36:51.128797+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNF4A were changed from to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026; MODY, type I, OMIM # 125850",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:36:27.510157+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HNF4A were set to ",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:36:04.366985+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HNF4A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:35:43.176575+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HNF4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 31875549, 24285859, 22802087, 30005691, 28458902; Phenotypes: Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026, MODY, type I, OMIM # 125850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:25:57.610418+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HNF1A as ready",
"entity_name": "HNF1A",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:25:57.595530+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnf1a has been classified as Green List (High Evidence).",
"entity_name": "HNF1A",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:25:43.966423+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNF1A were changed from to Diabetes mellitus, insulin-dependent, 20, MIM# 612520; MODY, type III , MIM#600496",
"entity_name": "HNF1A",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:23:17.601121+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HNF1A were set to ",
"entity_name": "HNF1A",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:22:52.397156+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HNF1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNF1A",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:22:31.847636+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HNF1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 9097962, 9112026; Phenotypes: Diabetes mellitus, insulin-dependent, 20, MIM# 612520, MODY, type III , MIM#600496; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNF1A",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:18:48.671574+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HMX1 as ready",
"entity_name": "HMX1",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:18:48.657425+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmx1 has been classified as Green List (High Evidence).",
"entity_name": "HMX1",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:18:46.381816+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HMX1 were changed from to Oculoauricular syndrome, MIM#612109",
"entity_name": "HMX1",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:18:37.120109+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HMX1 were set to ",
"entity_name": "HMX1",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:18:21.879816+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HMX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18423520, 25574057, 33465110, 32552830, 31691317; Phenotypes: Oculoauricular syndrome, MIM#612109; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HMX1",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:17:38.354277+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: HMX1.",
"entity_name": "HMX1",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:17:18.148307+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HMX1 as ready",
"entity_name": "HMX1",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:17:18.126951+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmx1 has been classified as Green List (High Evidence).",
"entity_name": "HMX1",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:16:45.730790+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HMX1 were changed from to Oculoauricular syndrome, MIM#612109",
"entity_name": "HMX1",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:16:23.797007+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HMX1 were set to ",
"entity_name": "HMX1",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:15:56.849991+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HMX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HMX1",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:15:35.440848+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Oculoauricular syndrome (OCACS) is characterized by complex ocular anomalies, including congenital cataract, anterior segment dysgenesis, iris coloboma, and early-onset retinal dystrophy, and dysplastic ears with abnormal external ear cartilage.\r\n\r\nAt least two families and two animal models. Also evidence that duplication of long-range enhancer causes microbial.; to: Oculoauricular syndrome (OCACS) is characterized by complex ocular anomalies, including congenital cataract, anterior segment dysgenesis, iris coloboma, and early-onset retinal dystrophy, and dysplastic ears with abnormal external ear cartilage.\r\n\r\nAt least two families and two animal models. Also evidence that duplication of long-range enhancer causes microtia.",
"entity_name": "HMX1",
"entity_type": "gene"
},
{
"created": "2022-05-04T15:15:19.955542+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HMX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18423520, 25574057, 33465110, 32552830, 31691317; Phenotypes: Oculoauricular syndrome, MIM#612109; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HMX1",
"entity_type": "gene"
},
{
"created": "2022-05-04T13:41:12.339416+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13687",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: COL9A1 as ready",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T13:41:12.328564+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13687",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: col9a1 has been classified as Green List (High Evidence).",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T13:41:06.584589+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13687",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: COL9A1 were changed from to Stickler syndrome, type IV, MIM# 614134",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T13:40:57.661570+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13686",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: COL9A1 were set to ",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T13:40:52.570799+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13686",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL9A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T13:40:32.543113+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13685",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: COL9A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16909383, 21421862, 31090205; Phenotypes: Stickler syndrome, type IV, MIM# 614134; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2022-05-04T13:39:29.696289+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13685",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CORIN were changed from to Preeclampsia/eclampsia 5 MIM#614595",
"entity_name": "CORIN",
"entity_type": "gene"
},
{
"created": "2022-05-04T13:39:24.525861+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13685",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CORIN were set to ",
"entity_name": "CORIN",
"entity_type": "gene"
},
{
"created": "2022-05-04T13:39:19.241680+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13684",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CORIN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CORIN",
"entity_type": "gene"
},
{
"created": "2022-05-04T13:39:14.463054+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13684",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: CORIN as Red List (low evidence)",
"entity_name": "CORIN",
"entity_type": "gene"
},
{
"created": "2022-05-04T13:39:14.457746+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13684",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Added comment: Comment on list classification: pre-eclampsia is typically not monogenic",
"entity_name": "CORIN",
"entity_type": "gene"
},
{
"created": "2022-05-04T13:39:14.428670+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13684",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: corin has been classified as Red List (Low Evidence).",
"entity_name": "CORIN",
"entity_type": "gene"
},
{
"created": "2022-05-04T13:38:52.356646+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13683",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: CORIN: Changed rating: RED",
"entity_name": "CORIN",
"entity_type": "gene"
},
{
"created": "2022-05-04T13:20:37.680639+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13683",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CORIN: Rating: AMBER; Mode of pathogenicity: None; Publications: 22437503; Phenotypes: Preeclampsia/eclampsia 5 MIM#614595; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CORIN",
"entity_type": "gene"
},
{
"created": "2022-05-04T13:10:54.299209+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.251",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: DUSP6: Rating: RED; Mode of pathogenicity: None; Publications: 23643382, 32389901; Phenotypes: Hypogonadotropic hypogonadism 19 with or without anosmia - MIM#615269; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2022-05-04T13:10:39.291471+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.435",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: DUSP6: Rating: RED; Mode of pathogenicity: None; Publications: 32389901, 23643382; Phenotypes: Hypogonadotropic hypogonadism 19 with or without anosmia - MIM#615269; Mode of inheritance: None",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2022-05-04T13:07:54.315159+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13683",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "changed review comment from: PMID: 23643382 Miraoui et al 2013 - - candidate gene study for genes in the FGFR1 pathway that may be associated with CHH, either as causative genes or disease modifiers. A cohort of 386 CHH individuals and 155 unaffected controls of European descent. A number of affected individuals included in this cohort already had known causative variants in CHH-associated genes. The coding exons and proximal introns (≥15 bp from splice sites) of FGF17, FGF18, IL17RD, DUSP6, SPRY2, SPRY4, and FLRT3 were amplified by PCR and determined by direct sequencing.\r\n\r\nSummary of DUSP6 variants identified in this study\r\nc.229 T>A p.(Phe77Ile) - absent gnomAD v2 and v3\r\nc.545C>T p.(Ser182Phe) - 203 hets gnomad v2, 137 hets and 1 hom - v3 - identified in conjunction with FGFR1 variant in this individual\r\nc.566A>G p.Asn189Ser - v2 57 hets, v3 29 hets (another individual identified with this variant and an SPRY4 variant)\r\nc.1037C>T p.Thr346Met - 81 hets v2, 27 hets and 1 hom v3 (identified in conjunction with SPRY4 variant\r\n\r\nNo segregation information provided.\r\n\r\nPMID: 23643382 - Dusp6 null mouse model reportedly has craniofacial defects and hearing defects, but no mention of hypogonadotropic hypogonadism. In 5 unrelated individuals with congenital hypogonadotropic hypogonadism 4 heterozygous missense were identified. In 3 of the probands, the DUSP6 mutation was accompanied by a heterozygous missense mutation in another HH-associated gene. 3 of the 4 variants have subpopulation allele frequencies in gnomAD v2.1 that are higher than expected for a dominant condition: p.Thr346Met (AJ AF 0.002797), p.Ser182Phe (NFE AF 0.001396), p.Asn189Ser (NFE AF 0.0003641). No functional assays were conducted.\r\n\r\nPMID: 32389901 - 6 unrelated male Chinese Kallman syndrome cases with 4 DUSP6 missense variants. 2 of 4 variants have East Asian allele frequencies in gnomAD v2.1 that are higher than expected for a dominant condition: p.Pro188Leu (EAS AF 0.001203), p.Arg83Gln (EAS AF 0.001129). No functional assays conducted.; to: PMID: 23643382 Miraoui et al 2013 - - candidate gene study for genes in the FGFR1 pathway that may be associated with CHH, either as causative genes or disease modifiers. A cohort of 386 CHH individuals and 155 unaffected controls of European descent. A number of affected individuals included in this cohort already had known causative variants in CHH-associated genes. The coding exons and proximal introns (≥15 bp from splice sites) of FGF17, FGF18, IL17RD, DUSP6, SPRY2, SPRY4, and FLRT3 were amplified by PCR and determined by direct sequencing.\r\n\r\nSummary of DUSP6 variants identified in this study\r\nc.229 T>A p.(Phe77Ile) - absent gnomAD v2 and v3\r\nc.545C>T p.(Ser182Phe) - 203 hets gnomad v2, 137 hets and 1 hom - v3 - identified in conjunction with FGFR1 variant in this individual\r\nc.566A>G p.Asn189Ser - v2 57 hets, v3 29 hets (another individual identified with this variant and an SPRY4 variant)\r\nc.1037C>T p.Thr346Met - 81 hets v2, 27 hets and 1 hom v3 (identified in conjunction with SPRY4 variant\r\n\r\nNo segregation information provided. Dusp6 null mouse model reportedly has craniofacial defects and hearing defects, but no mention of hypogonadotropic hypogonadism. \r\n\r\nPMID: 32389901 - 6 unrelated male Chinese Kallman syndrome cases with 4 DUSP6 missense variants. 2 of 4 variants have East Asian allele frequencies in gnomAD v2.1 that are higher than expected for a dominant condition: p.Pro188Leu (EAS AF 0.001203), p.Arg83Gln (EAS AF 0.001129). No functional assays conducted.",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2022-05-04T13:06:44.063810+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13683",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "changed review comment from: 1 study cited by OMIM (Miraoui et al 2013) - heterozygous variants in 5 unrelated individuals with congenital hypogonadotrophic hypogonadism (CHH). 4/5 variants highly prevalent in healthy population and/or in conjunction with variants in other genes either known to be associated with CHH or possibly associated. No additional studies published since this paper.\r\n\r\nPMID: 23643382 Miraoui et al 2013 - - candidate gene study for genes in the FGFR1 pathway that may be associated with CHH, either as causative genes or disease modifiers. A cohort of 386 CHH individuals and 155 unaffected controls of European descent. A number of affected individuals included in this cohort already had known causative variants in CHH-associated genes. The coding exons and proximal introns (≥15 bp from splice sites) of FGF17, FGF18, IL17RD, DUSP6, SPRY2, SPRY4, and FLRT3 were amplified by PCR and determined by direct sequencing.\r\n\r\nSummary of DUSP6 variants identified in this study\r\nc.229 T>A p.(Phe77Ile) - absent gnomAD v2 and v3\r\nc.545C>T p.(Ser182Phe) - 203 hets gnomad v2, 137 hets and 1 hom - v3 - identified in conjunction with FGFR1 variant in this individual\r\nc.566A>G p.Asn189Ser - v2 57 hets, v3 29 hets (another individual identified with this variant and an SPRY4 variant)\r\nc.1037C>T p.Thr346Met - 81 hets v2, 27 hets and 1 hom v3 (identified in conjunction with SPRY4 variant\r\n\r\nNo segregation information provided.; to: PMID: 23643382 Miraoui et al 2013 - - candidate gene study for genes in the FGFR1 pathway that may be associated with CHH, either as causative genes or disease modifiers. A cohort of 386 CHH individuals and 155 unaffected controls of European descent. A number of affected individuals included in this cohort already had known causative variants in CHH-associated genes. The coding exons and proximal introns (≥15 bp from splice sites) of FGF17, FGF18, IL17RD, DUSP6, SPRY2, SPRY4, and FLRT3 were amplified by PCR and determined by direct sequencing.\r\n\r\nSummary of DUSP6 variants identified in this study\r\nc.229 T>A p.(Phe77Ile) - absent gnomAD v2 and v3\r\nc.545C>T p.(Ser182Phe) - 203 hets gnomad v2, 137 hets and 1 hom - v3 - identified in conjunction with FGFR1 variant in this individual\r\nc.566A>G p.Asn189Ser - v2 57 hets, v3 29 hets (another individual identified with this variant and an SPRY4 variant)\r\nc.1037C>T p.Thr346Met - 81 hets v2, 27 hets and 1 hom v3 (identified in conjunction with SPRY4 variant\r\n\r\nNo segregation information provided.\r\n\r\nPMID: 23643382 - Dusp6 null mouse model reportedly has craniofacial defects and hearing defects, but no mention of hypogonadotropic hypogonadism. In 5 unrelated individuals with congenital hypogonadotropic hypogonadism 4 heterozygous missense were identified. In 3 of the probands, the DUSP6 mutation was accompanied by a heterozygous missense mutation in another HH-associated gene. 3 of the 4 variants have subpopulation allele frequencies in gnomAD v2.1 that are higher than expected for a dominant condition: p.Thr346Met (AJ AF 0.002797), p.Ser182Phe (NFE AF 0.001396), p.Asn189Ser (NFE AF 0.0003641). No functional assays were conducted.\r\n\r\nPMID: 32389901 - 6 unrelated male Chinese Kallman syndrome cases with 4 DUSP6 missense variants. 2 of 4 variants have East Asian allele frequencies in gnomAD v2.1 that are higher than expected for a dominant condition: p.Pro188Leu (EAS AF 0.001203), p.Arg83Gln (EAS AF 0.001129). No functional assays conducted.",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2022-05-04T13:05:47.231025+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13683",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: COQ9 as ready",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2022-05-04T13:05:47.221012+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13683",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: coq9 has been classified as Green List (High Evidence).",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2022-05-04T13:05:37.825414+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13683",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: COQ9 were changed from to Coenzyme Q10 deficiency, primary, 5, MIM#614654",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2022-05-04T13:05:22.227131+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13682",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: DUSP6: Rating: RED; Mode of pathogenicity: None; Publications: 23643382; Phenotypes: Hypogonadotropic hypogonadism 19 with or without anosmia - MIM#615269; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2022-05-04T13:04:52.414359+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13682",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: COQ9 were set to ",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2022-05-04T13:04:48.799234+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13682",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: COQ9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2022-05-04T13:04:32.769157+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13681",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: COQ9: Rating: GREEN; Mode of pathogenicity: None; Publications: 19375058, 26081641, 23255162, 31821167; Phenotypes: Coenzyme Q10 deficiency, primary, 5, MIM#614654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2022-05-04T13:00:31.799868+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13681",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: COQ8B as ready",
"entity_name": "COQ8B",
"entity_type": "gene"
},
{
"created": "2022-05-04T13:00:31.787527+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13681",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: coq8b has been classified as Green List (High Evidence).",
"entity_name": "COQ8B",
"entity_type": "gene"
},
{
"created": "2022-05-04T12:59:48.998688+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13681",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: COQ8B were changed from to Nephrotic syndrome, type 9 MIM#615573",
"entity_name": "COQ8B",
"entity_type": "gene"
},
{
"created": "2022-05-04T12:59:47.041390+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13681",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: COQ8B were set to ",
"entity_name": "COQ8B",
"entity_type": "gene"
},
{
"created": "2022-05-04T12:59:29.313655+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13681",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: COQ8B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ8B",
"entity_type": "gene"
}
]
}