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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=896",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=894",
"results": [
{
"created": "2022-04-04T19:14:12.350805+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALMS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2022-04-04T19:12:29.944661+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SERPINC1 as ready",
"entity_name": "SERPINC1",
"entity_type": "gene"
},
{
"created": "2022-04-04T19:12:29.933561+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serpinc1 has been classified as Green List (High Evidence).",
"entity_name": "SERPINC1",
"entity_type": "gene"
},
{
"created": "2022-04-04T19:12:21.943159+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SERPINC1 were changed from to hereditary antithrombin deficiency MONDO:0013144; Thrombophilia 7 due to antithrombin III deficiency, MIM#613118",
"entity_name": "SERPINC1",
"entity_type": "gene"
},
{
"created": "2022-04-04T19:11:57.774397+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SERPINC1 were set to ",
"entity_name": "SERPINC1",
"entity_type": "gene"
},
{
"created": "2022-04-04T19:11:38.689980+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SERPINC1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "SERPINC1",
"entity_type": "gene"
},
{
"created": "2022-04-04T18:56:32.726955+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.40",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: RAB28: Rating: GREEN; Mode of pathogenicity: None; Publications: 25356532, 33396523, 32084271, 23746546; Phenotypes: Cone-rod dystrophy 18 (MIM#615374); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB28",
"entity_type": "gene"
},
{
"created": "2022-04-04T18:54:29.047050+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12568",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: RAB28: Rating: GREEN; Mode of pathogenicity: None; Publications: 25356532, 33396523, 32084271, 23746546; Phenotypes: Cone-rod dystrophy 18 (MIM#615374); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB28",
"entity_type": "gene"
},
{
"created": "2022-04-04T18:36:32.515507+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SERPINB8 as ready",
"entity_name": "SERPINB8",
"entity_type": "gene"
},
{
"created": "2022-04-04T18:36:32.506808+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serpinb8 has been classified as Green List (High Evidence).",
"entity_name": "SERPINB8",
"entity_type": "gene"
},
{
"created": "2022-04-04T18:36:11.856669+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SERPINB8 were changed from to Peeling skin syndrome 5, MIM#617115",
"entity_name": "SERPINB8",
"entity_type": "gene"
},
{
"created": "2022-04-04T18:35:46.660943+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SERPINB8 were set to ",
"entity_name": "SERPINB8",
"entity_type": "gene"
},
{
"created": "2022-04-04T18:33:45.216075+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SERPINB8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERPINB8",
"entity_type": "gene"
},
{
"created": "2022-04-04T18:32:56.280825+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SERPINB6 as ready",
"entity_name": "SERPINB6",
"entity_type": "gene"
},
{
"created": "2022-04-04T18:32:56.268457+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serpinb6 has been classified as Green List (High Evidence).",
"entity_name": "SERPINB6",
"entity_type": "gene"
},
{
"created": "2022-04-04T18:31:38.076339+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SERPINB6 were changed from to Deafness, autosomal recessive 91, MIM# 613453",
"entity_name": "SERPINB6",
"entity_type": "gene"
},
{
"created": "2022-04-04T18:31:13.943184+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SERPINB6 were set to ",
"entity_name": "SERPINB6",
"entity_type": "gene"
},
{
"created": "2022-04-04T18:30:48.258265+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SERPINB6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERPINB6",
"entity_type": "gene"
},
{
"created": "2022-04-04T18:24:52.373937+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PNPT1 were set to 31752325; 30244537; 28594066; 28645153",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2022-04-04T18:16:09.117548+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12561",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PAM16: Rating: GREEN; Mode of pathogenicity: None; Publications: 24786642, 27354339; Phenotypes: Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM # 613320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PAM16",
"entity_type": "gene"
},
{
"created": "2022-04-04T18:14:20.752761+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12561",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PALLD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "PALLD",
"entity_type": "gene"
},
{
"created": "2022-04-04T17:03:22.388010+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12561",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CCM2 as ready",
"entity_name": "CCM2",
"entity_type": "gene"
},
{
"created": "2022-04-04T17:03:22.376043+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12561",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: ccm2 has been classified as Green List (High Evidence).",
"entity_name": "CCM2",
"entity_type": "gene"
},
{
"created": "2022-04-04T17:03:13.920869+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12561",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CCM2 were changed from to Cerebral cavernous malformations-2 MIM#603284",
"entity_name": "CCM2",
"entity_type": "gene"
},
{
"created": "2022-04-04T17:03:10.292100+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12560",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CCM2 were set to ",
"entity_name": "CCM2",
"entity_type": "gene"
},
{
"created": "2022-04-04T17:03:04.086370+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12560",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCM2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CCM2",
"entity_type": "gene"
},
{
"created": "2022-04-04T17:02:45.899283+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12559",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CCM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14624391, 18779516, 30356112, 21543988; Phenotypes: Cerebral cavernous malformations-2 MIM#603284; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CCM2",
"entity_type": "gene"
},
{
"created": "2022-04-04T17:00:34.456312+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12559",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CCL2 as ready",
"entity_name": "CCL2",
"entity_type": "gene"
},
{
"created": "2022-04-04T17:00:34.446708+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12559",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: ccl2 has been classified as Red List (Low Evidence).",
"entity_name": "CCL2",
"entity_type": "gene"
},
{
"created": "2022-04-04T17:00:33.287337+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12559",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CCL2 were changed from to {HIV-1, resistance to} MIM#609423; {Mycobacterium tuberculosis, susceptibility to} MIM#607948; {Spina bifida, susceptibility to} MIM#182940",
"entity_name": "CCL2",
"entity_type": "gene"
},
{
"created": "2022-04-04T17:00:29.241022+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12559",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: CCL2 as Red List (low evidence)",
"entity_name": "CCL2",
"entity_type": "gene"
},
{
"created": "2022-04-04T17:00:29.230624+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12559",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: ccl2 has been classified as Red List (Low Evidence).",
"entity_name": "CCL2",
"entity_type": "gene"
},
{
"created": "2022-04-04T17:00:12.619815+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12558",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CCL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {HIV-1, resistance to} MIM#609423, {Mycobacterium tuberculosis, susceptibility to} MIM#607948, {Spina bifida, susceptibility to} MIM#182940; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "CCL2",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:55:24.044358+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12558",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ANK1 were changed from Spherocytosis, type 1 MIM#182900 to Spherocytosis, type 1 MIM#182900",
"entity_name": "ANK1",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:54:11.980329+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12557",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CCDC88A as ready",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:54:11.970210+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12557",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: ccdc88a has been classified as Green List (High Evidence).",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:54:10.736546+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12557",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CCDC88A were set to ",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:54:08.635897+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12557",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC88A were changed from to PEHO syndrome-like, MIM# 617507",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:54:04.735888+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12557",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC88A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:53:34.412385+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12556",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ANK1 were changed from to Spherocytosis, type 1 MIM#182900",
"entity_name": "ANK1",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:53:26.446490+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12555",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CCDC88A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26917597, 30392057; Phenotypes: PEHO syndrome-like, MIM# 617507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CCDC88A",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:53:23.039740+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12555",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ANK1 as ready",
"entity_name": "ANK1",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:53:23.028221+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12555",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: ank1 has been classified as Green List (High Evidence).",
"entity_name": "ANK1",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:53:22.590610+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12555",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ANK1 were set to ",
"entity_name": "ANK1",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:53:18.713167+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12555",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANK1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "ANK1",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:50:41.793499+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12554",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ANK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8640229; Phenotypes: Spherocytosis, type 1 MIM#182900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ANK1",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:47:37.583914+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12554",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ANKH as ready",
"entity_name": "ANKH",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:47:37.572359+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12554",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: ankh has been classified as Green List (High Evidence).",
"entity_name": "ANKH",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:47:28.744050+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12554",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CCDC50 as ready",
"entity_name": "CCDC50",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:47:28.733187+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12554",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: ccdc50 has been classified as Green List (High Evidence).",
"entity_name": "CCDC50",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:47:17.438646+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12554",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC50 were changed from to Deafness, autosomal dominant 44 MIM#607453",
"entity_name": "CCDC50",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:47:16.043253+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12554",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CCDC50 were set to ",
"entity_name": "CCDC50",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:46:56.917275+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12554",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCDC50 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CCDC50",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:46:42.246871+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12553",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ANKLE2 were changed from Microcephaly 16, primary, autosomal recessive, MIM# 616681 to Microcephaly 16, primary, autosomal recessive, MIM# 616681",
"entity_name": "ANKLE2",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:46:12.508481+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12552",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CCDC50: Rating: GREEN; Mode of pathogenicity: None; Publications: 17503326, 27911912; Phenotypes: Deafness, autosomal dominant 44 MIM#607453; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CCDC50",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:46:05.133107+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12552",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ANKLE2 were changed from Microcephaly 16, primary, autosomal recessive, MIM# 616681 to Microcephaly 16, primary, autosomal recessive, MIM# 616681",
"entity_name": "ANKLE2",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:45:51.249381+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12551",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANKLE2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ANKLE2",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:44:58.417019+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12550",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ANKH were changed from to Chondrocalcinosis 2 MIM#118600; Craniometaphyseal dysplasia MIM#123000",
"entity_name": "ANKH",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:44:52.225072+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12550",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ANKH were set to ",
"entity_name": "ANKH",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:44:32.617093+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12549",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANKH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ANKH",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:41:11.318165+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12548",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ANKLE2 were changed from to Microcephaly 16, primary, autosomal recessive, MIM# 616681",
"entity_name": "ANKLE2",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:41:00.231477+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12547",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ANKLE2 as ready",
"entity_name": "ANKLE2",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:41:00.217552+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12547",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: ankle2 has been classified as Green List (High Evidence).",
"entity_name": "ANKLE2",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:40:58.395164+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12547",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ANKLE2 were set to ",
"entity_name": "ANKLE2",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:40:28.749334+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12546",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ANKH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32366894; Phenotypes: Chondrocalcinosis 2 MIM#118600, Craniometaphyseal dysplasia MIM#123000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ANKH",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:39:01.837659+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12546",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CAV3 as ready",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:39:01.796313+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12546",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cav3 has been classified as Green List (High Evidence).",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:38:42.341474+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12546",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CAV3 were changed from to Myopathy, distal, Tateyama type MIM#614321; Rippling muscle disease 2 MIM#606072; Creatine phosphokinase, elevated serum MIM#123320",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:38:20.197978+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12545",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CAV3 were set to ",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:38:16.008612+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12545",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CAV3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:37:54.708672+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12544",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CAV3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32004987, 28807458, 27312022, 10746614; Phenotypes: Myopathy, distal, Tateyama type MIM#614321, Rippling muscle disease 2 MIM#606072, Creatine phosphokinase, elevated serum MIM#123320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:31:23.800203+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12544",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: ETFDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:31:07.053867+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12543",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ETFB were set to ",
"entity_name": "ETFB",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:30:48.363068+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12542",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 17412732, 27038534, 19249206, 15710863, 32804429; Phenotypes: multiple acyl-CoA dehydrogenase deficiency MONDO:0009282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:29:19.945775+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12542",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CATSPER2 as ready",
"entity_name": "CATSPER2",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:29:19.936479+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12542",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: catsper2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CATSPER2",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:28:27.159351+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12542",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: CATSPER2 as Amber List (moderate evidence)",
"entity_name": "CATSPER2",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:28:27.150405+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12542",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: catsper2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CATSPER2",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:28:01.469504+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12541",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CATSPER2 were changed from to spermatogenic failure; non-syndromic hearing loss",
"entity_name": "CATSPER2",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:27:48.550568+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12540",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CATSPER2 were set to ",
"entity_name": "CATSPER2",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:27:42.815424+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12540",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CATSPER2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CATSPER2",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:27:27.171339+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12539",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: CATSPER2.",
"entity_name": "CATSPER2",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:27:08.683395+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12539",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CATSPER2: Rating: AMBER; Mode of pathogenicity: None; Publications: 17098888, 30629171, 12825070; Phenotypes: spermatogenic failure, non-syndromic hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CATSPER2",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:24:45.963615+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12539",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ANGPTL3 as ready",
"entity_name": "ANGPTL3",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:24:45.951967+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12539",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: angptl3 has been classified as Green List (High Evidence).",
"entity_name": "ANGPTL3",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:21:25.664863+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12539",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: ETFB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ETFB",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:21:01.947152+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12538",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ANGPTL3 were changed from to Hypobetalipoproteinemia, familial, 2 MIM#605019",
"entity_name": "ANGPTL3",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:20:50.753323+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12537",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ANGPTL3 were set to ",
"entity_name": "ANGPTL3",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:20:41.930040+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12537",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANGPTL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ANGPTL3",
"entity_type": "gene"
},
{
"created": "2022-04-04T16:20:21.652609+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12536",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ANGPTL3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23150577, 20942659, 22155345, 22062970; Phenotypes: Hypobetalipoproteinemia, familial, 2 MIM#605019; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ANGPTL3",
"entity_type": "gene"
},
{
"created": "2022-04-04T15:30:17.634303+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12536",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ETFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 7912128, 12815589, 27081516, 12706375, 30626930; Phenotypes: multiple acyl-CoA dehydrogenase deficiency MONDO:0009282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ETFB",
"entity_type": "gene"
},
{
"created": "2022-04-04T15:13:35.096753+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12536",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CATSPER1 as ready",
"entity_name": "CATSPER1",
"entity_type": "gene"
},
{
"created": "2022-04-04T15:13:35.071052+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12536",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: catsper1 has been classified as Green List (High Evidence).",
"entity_name": "CATSPER1",
"entity_type": "gene"
},
{
"created": "2022-04-04T15:07:50.189923+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12536",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CATSPER1 were changed from to Spermatogenic failure 7 MIM#612997",
"entity_name": "CATSPER1",
"entity_type": "gene"
},
{
"created": "2022-04-04T15:07:40.176522+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12535",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CATSPER1 were set to ",
"entity_name": "CATSPER1",
"entity_type": "gene"
},
{
"created": "2022-04-04T15:07:30.108127+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12535",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CATSPER1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CATSPER1",
"entity_type": "gene"
},
{
"created": "2022-04-04T15:07:11.526549+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12534",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: 2 consanguineous families; to: 2 consanguineous families\r\n\r\nKO mice models had reduced sperm motility and fertilisation rates",
"entity_name": "CATSPER1",
"entity_type": "gene"
},
{
"created": "2022-04-04T15:07:00.427459+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12534",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ETFA as ready",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2022-04-04T15:07:00.414950+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12534",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: etfa has been classified as Green List (High Evidence).",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2022-04-04T15:06:33.483904+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12534",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: CATSPER1: Changed rating: GREEN; Set current diagnostic: yes",
"entity_name": "CATSPER1",
"entity_type": "gene"
}
]
}