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{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=855",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=853",
"results": [
{
"created": "2022-05-05T18:56:04.376293+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdm13 has been classified as Green List (High Evidence).",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:54:47.653517+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRDM13 as Green List (high evidence)",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:54:47.642012+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdm13 has been classified as Green List (High Evidence).",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:53:05.099612+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNH5 as ready",
"entity_name": "KCNH5",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:53:05.089846+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnh5 has been classified as Green List (High Evidence).",
"entity_name": "KCNH5",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:31:09.485939+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRYGS as ready",
"entity_name": "CRYGS",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:31:09.472160+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crygs has been classified as Green List (High Evidence).",
"entity_name": "CRYGS",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:31:07.125617+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRYGS were changed from to Cataract 20, multiple types MIM#116100",
"entity_name": "CRYGS",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:30:37.511819+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRYGS were set to ",
"entity_name": "CRYGS",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:29:15.032976+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRYGS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CRYGS",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:28:44.584891+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CRYGS: Rating: GREEN; Mode of pathogenicity: None; Publications: 34014271, 16141006, 18587492, 19262743; Phenotypes: Cataract 20, multiple types MIM#116100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CRYGS",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:26:40.101586+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CREB1 as ready",
"entity_name": "CREB1",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:26:40.089783+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: creb1 has been classified as Red List (Low Evidence).",
"entity_name": "CREB1",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:26:36.111588+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CREB1 were changed from to Agenesis of corpus callosum, MONDO:0009022",
"entity_name": "CREB1",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:26:05.406503+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CREB1 were set to ",
"entity_name": "CREB1",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:25:34.843220+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CREB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CREB1",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:25:06.239727+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CREB1 as Red List (low evidence)",
"entity_name": "CREB1",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:25:06.228243+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: creb1 has been classified as Red List (Low Evidence).",
"entity_name": "CREB1",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:24:35.371762+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CREB1: Rating: RED; Mode of pathogenicity: None; Publications: 22267179; Phenotypes: Agenesis of corpus callosum, MONDO:0009022; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CREB1",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:24:12.111337+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CREB1 were changed from corpus callosum agenesis; thyroid follicular hypoplasia to Agenesis of corpus callosum, MONDO:0009022",
"entity_name": "CREB1",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:23:45.406988+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13819",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CREB1: Changed rating: RED",
"entity_name": "CREB1",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:23:34.349868+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13819",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CREB1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Agenesis of corpus callosum, MONDO:0009022; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CREB1",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:21:37.828229+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13819",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC16A12 as ready",
"entity_name": "SLC16A12",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:21:37.817756+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13819",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc16a12 has been classified as Green List (High Evidence).",
"entity_name": "SLC16A12",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:21:24.621971+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13819",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC16A12 were changed from to Cataract 47, juvenile, with microcornea, MIM# 612018",
"entity_name": "SLC16A12",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:20:59.228142+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC16A12 were set to ",
"entity_name": "SLC16A12",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:20:38.299606+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC16A12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC16A12",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:18:07.721846+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC14A1 as ready",
"entity_name": "SLC14A1",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:18:07.710914+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc14a1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC14A1",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:17:59.358281+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC14A1 were changed from to [Blood group, Kidd], MIM#111000",
"entity_name": "SLC14A1",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:17:39.352357+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC14A1 were set to ",
"entity_name": "SLC14A1",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:17:16.964833+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC14A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC14A1",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:16:54.872705+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC14A1 as Red List (low evidence)",
"entity_name": "SLC14A1",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:16:54.863138+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc14a1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC14A1",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:16:13.519534+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC12A5 as ready",
"entity_name": "SLC12A5",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:16:13.509697+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc12a5 has been classified as Green List (High Evidence).",
"entity_name": "SLC12A5",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:16:02.947889+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC12A5 were changed from to Developmental and epileptic encephalopathy 34, MIM# 616645; {Epilepsy, idiopathic generalized, susceptibility to, 14}, MIM# 616685",
"entity_name": "SLC12A5",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:15:42.118558+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC12A5 were set to ",
"entity_name": "SLC12A5",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:15:20.372866+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC12A5 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "SLC12A5",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:13:56.706673+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CORIN as ready",
"entity_name": "CORIN",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:13:56.697085+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: corin has been classified as Red List (Low Evidence).",
"entity_name": "CORIN",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:12:55.130556+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DUSP6 as ready",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:12:55.107405+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dusp6 has been classified as Red List (Low Evidence).",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:12:50.509770+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DUSP6 as ready",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:12:50.497940+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dusp6 has been classified as Red List (Low Evidence).",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:12:47.954430+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DUSP6 were changed from to Hypogonadotropic hypogonadism 19 with or without anosmia - MIM#615269",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:12:18.378929+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DUSP6 were set to ",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:11:46.226818+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DUSP6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:10:38.817871+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DUSP6 as Red List (low evidence)",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:10:38.805826+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dusp6 has been classified as Red List (Low Evidence).",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:10:02.186770+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DUSP6 as ready",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:10:02.167668+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dusp6 has been classified as Red List (Low Evidence).",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:09:59.696005+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DUSP6 were changed from to Hypogonadotropic hypogonadism 19 with or without anosmia - MIM#615269",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:09:31.207763+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DUSP6 were set to ",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:09:01.574192+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DUSP6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:08:34.052561+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DUSP6 as Red List (low evidence)",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:08:34.041583+10:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dusp6 has been classified as Red List (Low Evidence).",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:07:59.964366+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DUSP6 were changed from to Hypogonadotropic hypogonadism 19 with or without anosmia - MIM#615269",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:07:39.534441+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DUSP6 were set to ",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:07:19.581152+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DUSP6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:07:00.174576+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DUSP6 as Red List (low evidence)",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:07:00.162735+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dusp6 has been classified as Red List (Low Evidence).",
"entity_name": "DUSP6",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:04:24.528276+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DYRK1B as ready",
"entity_name": "DYRK1B",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:04:24.506363+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dyrk1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "DYRK1B",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:04:14.602519+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DYRK1B were set to ",
"entity_name": "DYRK1B",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:04:06.113935+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DYRK1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DYRK1B",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:03:58.881168+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DYRK1B as Amber List (moderate evidence)",
"entity_name": "DYRK1B",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:03:58.868987+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dyrk1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "DYRK1B",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:03:31.785785+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DYRK1B as ready",
"entity_name": "DYRK1B",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:03:31.770224+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dyrk1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "DYRK1B",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:03:23.385375+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DYRK1B were changed from to Abdominal obesity-metabolic syndrome 3 - MIM#615812",
"entity_name": "DYRK1B",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:02:51.453580+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DYRK1B were set to ",
"entity_name": "DYRK1B",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:02:28.835516+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DYRK1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DYRK1B",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:02:08.840893+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DYRK1B as Amber List (moderate evidence)",
"entity_name": "DYRK1B",
"entity_type": "gene"
},
{
"created": "2022-05-05T18:02:08.831861+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dyrk1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "DYRK1B",
"entity_type": "gene"
},
{
"created": "2022-05-05T17:54:19.260974+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Steel syndrome MIM #615155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL27A1",
"entity_type": "gene"
},
{
"created": "2022-05-05T17:53:58.033809+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL27A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL27A1",
"entity_type": "gene"
},
{
"created": "2022-05-05T15:14:31.467281+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13800",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2022-05-05T13:42:45.495050+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13800",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: KLF4 as Green List (high evidence)",
"entity_name": "KLF4",
"entity_type": "gene"
},
{
"created": "2022-05-05T13:42:45.485407+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13800",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: klf4 has been classified as Green List (High Evidence).",
"entity_name": "KLF4",
"entity_type": "gene"
},
{
"created": "2022-05-05T12:45:11.627543+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.119",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: KLF4 as Green List (high evidence)",
"entity_name": "KLF4",
"entity_type": "gene"
},
{
"created": "2022-05-05T12:45:11.615978+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.119",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: klf4 has been classified as Green List (High Evidence).",
"entity_name": "KLF4",
"entity_type": "gene"
},
{
"created": "2022-05-05T12:44:50.331332+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.119",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: KLF4 as Green List (high evidence)",
"entity_name": "KLF4",
"entity_type": "gene"
},
{
"created": "2022-05-05T12:44:50.312867+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.119",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: klf4 has been classified as Green List (High Evidence).",
"entity_name": "KLF4",
"entity_type": "gene"
},
{
"created": "2022-05-05T12:44:31.731084+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.118",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: KLF4 as ready",
"entity_name": "KLF4",
"entity_type": "gene"
},
{
"created": "2022-05-05T12:44:31.721183+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.118",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: klf4 has been classified as Red List (Low Evidence).",
"entity_name": "KLF4",
"entity_type": "gene"
},
{
"created": "2022-05-05T12:33:48.897316+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.121",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: DTYMK was added\ngene: DTYMK was added to Microcephaly. Sources: Expert list\nMode of inheritance for gene: DTYMK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DTYMK were set to 34918187; 31271740\nPhenotypes for gene: DTYMK were set to Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847)\nReview for gene: DTYMK was set to GREEN\nAdded comment: Three unrelated families with biallelic DTYMK variants. The probands had severe microcephaly, growth retardation and minimal neurodevelopment. Supporting zebrafish model. \nSources: Expert list",
"entity_name": "DTYMK",
"entity_type": "gene"
},
{
"created": "2022-05-05T12:31:26.875679+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13799",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: DTYMK: Rating: GREEN; Mode of pathogenicity: None; Publications: 34918187, 31271740; Phenotypes: Neurodegeneration, childhood-onset, with progressive microcephaly (MIM# 619847); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DTYMK",
"entity_type": "gene"
},
{
"created": "2022-05-05T12:29:29.188763+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.193",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: P3H2 was added\ngene: P3H2 was added to Proteinuria. Sources: Expert list\nMode of inheritance for gene: P3H2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: P3H2 were set to 35499085\nPhenotypes for gene: P3H2 were set to Myopia, high, with cataract and vitreoretinal degeneration (MIM# 614292); Proteinuria, P3H2-related MONDO:0003634\nReview for gene: P3H2 was set to GREEN\nAdded comment: Candidate gene for albuminuria. Three families reported with homozygous P3H2 variants who have ocular abnormalities and albuminuria. Segregation with microalbuminuria and microhematuria in four affected siblings. Knockout mice initially have a TBMN phenotype that slowly progresses to a FSGS phenotype. \nSources: Expert list",
"entity_name": "P3H2",
"entity_type": "gene"
},
{
"created": "2022-05-05T12:11:06.531796+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4741",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "gene: CTR9 was added\ngene: CTR9 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CTR9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CTR9 were set to PMID: 35499524\nPhenotypes for gene: CTR9 were set to Neurodevelopmental disorder (MONDO:0700092), CTR9-related; Intellectual disability (MONDO:0001071); hypotonia (HP:0001252); joint hyperlaxity (HP:0001388); speech delay; coordination problems; tremor (HP:0001337); autism spectrum disorder (MONDO:0005258)\nReview for gene: CTR9 was set to GREEN\nAdded comment: PMID: 35499524 - Thirteen individuals with variables degrees of intellectual disability, hypotonia, joint hyperlaxity, speech delay, coordination problems, tremor, autism spectrum disorder. Mild dysmorphism and cardiac anomalies were less frequent. Eleven of the variants were shown to be de novo. \nSources: Literature",
"entity_name": "CTR9",
"entity_type": "gene"
},
{
"created": "2022-05-05T12:05:37.219478+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13799",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: NRG1 as Red List (low evidence)",
"entity_name": "NRG1",
"entity_type": "gene"
},
{
"created": "2022-05-05T12:05:37.215188+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13799",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Red for peripheral neuropathy (single family reported)\r\nAmber for Hirschsprung disease",
"entity_name": "NRG1",
"entity_type": "gene"
},
{
"created": "2022-05-05T12:05:37.182690+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13799",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: nrg1 has been classified as Red List (Low Evidence).",
"entity_name": "NRG1",
"entity_type": "gene"
},
{
"created": "2022-05-05T12:04:37.194018+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.118",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: KLF4 was added\ngene: KLF4 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Literature\nMode of inheritance for gene: KLF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KLF4 were set to PMID: 35168889; 10431239\nPhenotypes for gene: KLF4 were set to Hereditary palmoplantar keratoderma MONDO:0019272, KFL4-related\nReview for gene: KLF4 was set to GREEN\nAdded comment: PMID: 35168889 - 3 patients from 2 unrelated families with palmoplantar keratoderma. Two variants found, fs and a missense.\r\nFunctional studies on patient skin biopsy shows \"slightly but significantly decreased\" protein expression in both children. \r\nGene was shown to bind the DSG1 promoter and regulate expression. Transfected cells showed reduced DSG1 expression.\r\n\r\nPMID: 10431239 - mouse K/O died shortly after birth due to loss of skin barrier function\r\n\r\ngnomAD: single het fs in the population \nSources: Literature",
"entity_name": "KLF4",
"entity_type": "gene"
},
{
"created": "2022-05-05T12:04:08.671285+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13798",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: KLF4 was added\ngene: KLF4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KLF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KLF4 were set to PMID: 35168889; 10431239\nPhenotypes for gene: KLF4 were set to Hereditary palmoplantar keratoderma MONDO:0019272, KFL4-related\nReview for gene: KLF4 was set to GREEN\nAdded comment: PMID: 35168889 - 3 patients from 2 unrelated families with palmoplantar keratoderma. Two variants found, fs and a missense.\r\nFunctional studies on patient skin biopsy shows \"slightly but significantly decreased\" protein expression in both children. \r\nGene was shown to bind the DSG1 promoter and regulate expression. Transfected cells showed reduced DSG1 expression.\r\n\r\nPMID: 10431239 - mouse K/O died shortly after birth due to loss of skin barrier function\r\n\r\ngnomAD: single het fs in the population \nSources: Literature",
"entity_name": "KLF4",
"entity_type": "gene"
},
{
"created": "2022-05-05T12:03:55.685795+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: P3H2 were set to 21885030; 24172257; 25469533",
"entity_name": "P3H2",
"entity_type": "gene"
},
{
"created": "2022-05-05T12:03:37.990889+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.48",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "gene: PRDM13 was added\ngene: PRDM13 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature\nMode of inheritance for gene: PRDM13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRDM13 were set to PMID: 35390279\nPhenotypes for gene: PRDM13 were set to Pontocerebellar hypoplasia (MONDO:0020135), PRDM13 related; Intellectual disability (MONDO:0001071)\nReview for gene: PRDM13 was set to GREEN\nAdded comment: PMID: 35390279 - Biallelic variants identified in multiple individuals from four unrelated families with pontocerebellar hypoplasia, pronounced deficits in cognitive and motor development. Homozygous PTC variants were present in the most severely affected individuals. \nSources: Literature",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2022-05-05T12:02:28.429195+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TULP3 as Green List (high evidence)",
"entity_name": "TULP3",
"entity_type": "gene"
},
{
"created": "2022-05-05T12:02:28.410518+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tulp3 has been classified as Green List (High Evidence).",
"entity_name": "TULP3",
"entity_type": "gene"
},
{
"created": "2022-05-05T12:01:10.235944+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.263",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "gene: NDUFV2 was added\ngene: NDUFV2 was added to Leukodystrophy - paediatric. Sources: Literature\nMode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDUFV2 were set to 33811136\nPhenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, nuclear type 7\t(MIM#618229)\nReview for gene: NDUFV2 was set to GREEN\nAdded comment: Three missense mutations were identified in 2 unrelated and nonconsanguineous families with progressive cavitating leukoencephalopathy. The 1st family (WGS) has 2 homozygous siblings with p.(Ala183Thr), and 2nd family (WES) has 2 cHet siblings with p.(Leu156His) and p.(C135Ser). Complex I deficiency was confirmed in affected individuals’ fibroblasts and a muscle\r\nbiopsy. Functional and structural analyses revealed that these mutations affect the structural stability and function of the NDUFV2 protein. \nSources: Literature",
"entity_name": "NDUFV2",
"entity_type": "gene"
}
]
}