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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=851",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=849",
"results": [
{
"created": "2022-05-09T08:14:51.729998+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13920",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cyp2c19 has been classified as Red List (Low Evidence).",
"entity_name": "CYP2C19",
"entity_type": "gene"
},
{
"created": "2022-05-09T08:14:33.210783+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13919",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: CYP2C19: Changed rating: RED",
"entity_name": "CYP2C19",
"entity_type": "gene"
},
{
"created": "2022-05-09T08:14:25.501436+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13919",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: Voriconazole: Improved time to target concentration with genotype directed dosing (PMID 26616742), reduced underexposure (PMID: 31549389) (PMID 31549386)\r\n\r\n(PMID:27981572)\r\nVoriconazole, moderate strength.\r\nPoor metabolizer: \"Higher dose-adjusted trough concentrations of voriconazole and\r\nmay increase probability of adverse events.\" \r\nUltrarapid metabolizer: \"probability of attainment of therapeutic voriconazole concentrations is small with standard dosing.\"; to: Pharmacogenomics gene\r\n\r\nVoriconazole: Improved time to target concentration with genotype directed dosing (PMID 26616742), reduced underexposure (PMID: 31549389) (PMID 31549386)\r\n\r\n(PMID:27981572)\r\nVoriconazole, moderate strength.\r\nPoor metabolizer: \"Higher dose-adjusted trough concentrations of voriconazole and\r\nmay increase probability of adverse events.\" \r\nUltrarapid metabolizer: \"probability of attainment of therapeutic voriconazole concentrations is small with standard dosing.\"",
"entity_name": "CYP2C19",
"entity_type": "gene"
},
{
"created": "2022-05-07T18:31:58.546177+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DGUOK as ready",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2022-05-07T18:31:58.534649+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dguok has been classified as Green List (High Evidence).",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2022-05-07T18:31:48.744059+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DGUOK were changed from to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880; Portal hypertension, noncirrhotic, 1, MIM# 617068; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2022-05-07T18:31:22.022962+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DGUOK were set to ",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2022-05-07T18:30:52.366972+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DGUOK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2022-05-07T18:30:24.143687+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DGUOK: Rating: GREEN; Mode of pathogenicity: None; Publications: 11687800, 12874104, 15887277, 23043144, 26874653; Phenotypes: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880, Portal hypertension, noncirrhotic, 1, MIM# 617068, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2022-05-07T18:23:49.237449+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DGKE as ready",
"entity_name": "DGKE",
"entity_type": "gene"
},
{
"created": "2022-05-07T18:23:49.224622+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dgke has been classified as Green List (High Evidence).",
"entity_name": "DGKE",
"entity_type": "gene"
},
{
"created": "2022-05-07T18:23:46.027814+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DGKE were changed from to Nephrotic syndrome, type 7, MIM# 615008",
"entity_name": "DGKE",
"entity_type": "gene"
},
{
"created": "2022-05-07T18:23:14.693202+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DGKE were set to ",
"entity_name": "DGKE",
"entity_type": "gene"
},
{
"created": "2022-05-07T18:22:42.565015+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DGKE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DGKE",
"entity_type": "gene"
},
{
"created": "2022-05-07T18:22:06.958638+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DGKE: Rating: GREEN; Mode of pathogenicity: None; Publications: 23274426, 23542698; Phenotypes: Nephrotic syndrome, type 7, MIM# 615008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DGKE",
"entity_type": "gene"
},
{
"created": "2022-05-07T18:21:27.639278+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DGKE as ready",
"entity_name": "DGKE",
"entity_type": "gene"
},
{
"created": "2022-05-07T18:21:27.628725+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dgke has been classified as Green List (High Evidence).",
"entity_name": "DGKE",
"entity_type": "gene"
},
{
"created": "2022-05-07T18:21:10.470869+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DGKE were changed from to Nephrotic syndrome, type 7, MIM# 615008",
"entity_name": "DGKE",
"entity_type": "gene"
},
{
"created": "2022-05-07T18:20:48.342575+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DGKE were set to ",
"entity_name": "DGKE",
"entity_type": "gene"
},
{
"created": "2022-05-07T18:15:11.251324+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DGKE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DGKE",
"entity_type": "gene"
},
{
"created": "2022-05-07T18:14:43.748675+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DGKE: Rating: GREEN; Mode of pathogenicity: None; Publications: 23274426, 23542698; Phenotypes: Nephrotic syndrome, type 7, MIM# 615008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DGKE",
"entity_type": "gene"
},
{
"created": "2022-05-07T18:12:31.064051+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DES as ready",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2022-05-07T18:12:31.041046+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: des has been classified as Green List (High Evidence).",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2022-05-07T18:09:04.266633+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DES were changed from to Cardiomyopathy, dilated, 1I, MIM# 604765; Myopathy, myofibrillar, 1 , MIM#601419; Arrhythmogenic right ventricular cardiomyopathy",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2022-05-07T18:08:40.874616+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DES were set to ",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2022-05-07T18:08:02.092218+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: None; Publications: 20718792, 19879535, 20423733, 24200904, 22395865, 29212896, 23168288, 20829228, 10430757, 11728149, 17325244, 23300193, 31514951, 26724190, 23349452, 25557463, 33947203; Phenotypes: Cardiomyopathy, dilated, 1I, MIM# 604765, Myopathy, myofibrillar, 1 , MIM#601419, Arrhythmogenic right ventricular cardiomyopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:32:41.710355+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DEPDC5 as ready",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:32:41.698451+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: depdc5 has been classified as Green List (High Evidence).",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:32:29.503179+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DEPDC5 were changed from to Epilepsy, familial focal, with variable foci 1, MIM#604364",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:31:57.743226+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DEPDC5 were set to ",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:31:24.209005+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DEPDC5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:30:49.040459+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DEPDC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 31444548, 23542697, 23542701; Phenotypes: Epilepsy, familial focal, with variable foci 1, MIM#604364; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:30:06.342835+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DEPDC5 as ready",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:30:06.331932+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: depdc5 has been classified as Green List (High Evidence).",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:30:03.453852+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DEPDC5 were changed from to Epilepsy, familial focal, with variable foci 1 MIM#604364",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:29:26.379891+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DEPDC5 were set to ",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:28:47.959348+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DEPDC5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:27:57.683902+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DEPDC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 31444548, 23542697, 23542701; Phenotypes: Epilepsy, familial focal, with variable foci 1 MIM#604364; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:27:05.682432+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DEPDC5 as ready",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:27:05.671350+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: depdc5 has been classified as Green List (High Evidence).",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:26:57.201521+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DEPDC5 were changed from to Epilepsy, familial focal, with variable foci 1, MIM#604364",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:26:29.152672+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DEPDC5 were set to ",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:26:08.538226+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13909",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DEPDC5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:24:53.399215+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DEPDC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 31444548, 23542697, 23542701; Phenotypes: Epilepsy, familial focal, with variable foci 1 MIM#604364; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DEPDC5",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:22:00.233360+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DECR1 as ready",
"entity_name": "DECR1",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:22:00.220702+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: decr1 has been classified as Red List (Low Evidence).",
"entity_name": "DECR1",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:21:51.304025+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DECR1 as Red List (low evidence)",
"entity_name": "DECR1",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:21:51.292884+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: decr1 has been classified as Red List (Low Evidence).",
"entity_name": "DECR1",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:21:29.503355+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DECR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "DECR1",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:19:40.993151+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDIT3 as ready",
"entity_name": "DDIT3",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:19:40.982385+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddit3 has been classified as Red List (Low Evidence).",
"entity_name": "DDIT3",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:19:28.884789+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DDIT3 as Red List (low evidence)",
"entity_name": "DDIT3",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:19:28.874682+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddit3 has been classified as Red List (Low Evidence).",
"entity_name": "DDIT3",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:19:06.751088+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DDIT3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "DDIT3",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:12:36.158964+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDHD2 as ready",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:12:36.141465+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddhd2 has been classified as Green List (High Evidence).",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:12:20.177392+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DDHD2 were changed from to Spastic paraplegia 54, autosomal recessive, MIM# 615033",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:09:29.813342+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DDHD2 were set to ",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:09:07.997264+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DDHD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:08:47.993541+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DDHD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23486545, 24482476, 23176823, 31302745; Phenotypes: Spastic paraplegia 54, autosomal recessive, MIM# 615033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDHD2",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:07:08.487766+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDC as ready",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:07:08.476391+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddc has been classified as Green List (High Evidence).",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:06:58.878714+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DDC were changed from to Aromatic L-amino acid decarboxylase deficiency, MIM# 608643",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:06:37.187047+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DDC were set to ",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:06:15.183190+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DDC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:05:48.764653+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 20505134, 30952622; Phenotypes: Aromatic L-amino acid decarboxylase deficiency, MIM# 608643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:03:09.840154+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDB2 as ready",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:03:09.827731+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddb2 has been classified as Green List (High Evidence).",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:03:01.299359+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DDB2 were changed from to Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2022-05-06T18:02:31.186164+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DDB2 were set to ",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2022-05-06T17:49:49.808139+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13898",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: AQP3 were set to ",
"entity_name": "AQP3",
"entity_type": "gene"
},
{
"created": "2022-05-06T17:49:38.212438+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13897",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: AQP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AQP3",
"entity_type": "gene"
},
{
"created": "2022-05-06T17:49:33.081575+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13897",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: AQP3 as Amber List (moderate evidence)",
"entity_name": "AQP3",
"entity_type": "gene"
},
{
"created": "2022-05-06T17:49:33.055365+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13897",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: aqp3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AQP3",
"entity_type": "gene"
},
{
"created": "2022-05-06T17:47:14.478158+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13896",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: AQP3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 10737773, 12239222; Phenotypes: [Blood group GIL] MIM#607457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AQP3",
"entity_type": "gene"
},
{
"created": "2022-05-06T17:45:29.717696+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DDB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2022-05-06T17:45:10.619983+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DDB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33276309, 32530099, 32239545, 32228487; Phenotypes: Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2022-05-06T17:42:58.326430+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DCTN1 as ready",
"entity_name": "DCTN1",
"entity_type": "gene"
},
{
"created": "2022-05-06T17:42:58.315388+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dctn1 has been classified as Green List (High Evidence).",
"entity_name": "DCTN1",
"entity_type": "gene"
},
{
"created": "2022-05-06T17:42:50.169660+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DCTN1 were changed from to Neuronopathy, distal hereditary motor, type VIIB, MIM# 607641; MONDO:0011879; Perry syndrome, MIM# 168605",
"entity_name": "DCTN1",
"entity_type": "gene"
},
{
"created": "2022-05-06T17:42:29.938433+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DCTN1 were set to ",
"entity_name": "DCTN1",
"entity_type": "gene"
},
{
"created": "2022-05-06T17:42:02.735762+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13893",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DCTN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DCTN1",
"entity_type": "gene"
},
{
"created": "2022-05-06T17:41:42.106582+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13892",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DCTN1: Changed phenotypes: Neuronopathy, distal hereditary motor, type VIIB, MIM# 607641, MONDO:0011879, Perry syndrome, MIM# 168605",
"entity_name": "DCTN1",
"entity_type": "gene"
},
{
"created": "2022-05-06T17:38:39.296706+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13892",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: AQP5 were set to PMID: 35014096; 23830519",
"entity_name": "AQP5",
"entity_type": "gene"
},
{
"created": "2022-05-06T17:38:35.653176+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13892",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: AQP5 were changed from Palmoplantar keratoderma, Bothnian type MIM#600231 to Palmoplantar keratoderma, Bothnian type MIM#600231",
"entity_name": "AQP5",
"entity_type": "gene"
},
{
"created": "2022-05-06T17:35:24.206358+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13891",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: AQP5 were set to ",
"entity_name": "AQP5",
"entity_type": "gene"
},
{
"created": "2022-05-06T17:35:17.134674+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13892",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: AQP5 were changed from to Palmoplantar keratoderma, Bothnian type MIM#600231",
"entity_name": "AQP5",
"entity_type": "gene"
},
{
"created": "2022-05-06T17:35:12.975323+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13891",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: AQP5 as ready",
"entity_name": "AQP5",
"entity_type": "gene"
},
{
"created": "2022-05-06T17:35:12.963810+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13891",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: aqp5 has been classified as Green List (High Evidence).",
"entity_name": "AQP5",
"entity_type": "gene"
},
{
"created": "2022-05-06T17:35:08.522596+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13891",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: AQP5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "AQP5",
"entity_type": "gene"
},
{
"created": "2022-05-06T17:32:34.711324+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13890",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: AQP5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35014096, 23830519; Phenotypes: Palmoplantar keratoderma, Bothnian type MIM#600231; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "AQP5",
"entity_type": "gene"
},
{
"created": "2022-05-06T17:22:45.855787+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13890",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: AR were changed from to Hypospadias 1, X-linked MIM#30063; Androgen insensitivity MIM#300068; Androgen insensitivity, partial, with or without breast cancer MIM#312300; Spinal and bulbar muscular atrophy of Kennedy MIM#313200",
"entity_name": "AR",
"entity_type": "gene"
},
{
"created": "2022-05-06T17:22:41.556617+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13890",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: AR were set to ",
"entity_name": "AR",
"entity_type": "gene"
},
{
"created": "2022-05-06T17:22:20.827491+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13889",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: AR was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "AR",
"entity_type": "gene"
},
{
"created": "2022-05-06T17:20:33.664262+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13888",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: AR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22334387; Phenotypes: Hypospadias 1, X-linked MIM#30063, Androgen insensitivity MIM#300068, Androgen insensitivity, partial, with or without breast cancer MIM#312300, Spinal and bulbar muscular atrophy of Kennedy MIM#313200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "AR",
"entity_type": "gene"
},
{
"created": "2022-05-06T17:10:51.113435+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DCLRE1C as ready",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2022-05-06T17:10:51.100623+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dclre1c has been classified as Green List (High Evidence).",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2022-05-06T17:10:42.891283+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DCLRE1C were changed from to Severe combined immunodeficiency, Athabascan type MIM# 602450; Omenn syndrome, MIM# 603554",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2022-05-06T17:10:21.154374+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DCLRE1C were set to ",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2022-05-06T17:09:54.897059+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DCLRE1C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DCLRE1C",
"entity_type": "gene"
}
]
}