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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=902",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=900",
"results": [
{
"created": "2022-03-31T18:12:49.617694+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APOE as ready",
"entity_name": "APOE",
"entity_type": "gene"
},
{
"created": "2022-03-31T18:12:49.606552+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apoe has been classified as Green List (High Evidence).",
"entity_name": "APOE",
"entity_type": "gene"
},
{
"created": "2022-03-31T18:12:41.244647+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: APOE were changed from to Hyperlipoproteinemia, type III (MIM#617347); Sea-blue histiocyte disease (MIM#269600)",
"entity_name": "APOE",
"entity_type": "gene"
},
{
"created": "2022-03-31T18:12:08.664685+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: APOE were set to ",
"entity_name": "APOE",
"entity_type": "gene"
},
{
"created": "2022-03-31T18:11:36.430758+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: APOE was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "APOE",
"entity_type": "gene"
},
{
"created": "2022-03-31T15:58:57.611126+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AKT3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2022-03-31T15:58:17.352445+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF2B4 were changed from leukoencephalopathy with vanishing white matter MONDO:0011380; ataxia; spasticity; optic atrophy; primary ovarian failure to Leukoencephalopathy with vanishing white matter, MIM#\t603896; leukoencephalopathy with vanishing white matter MONDO:0011380; ataxia; spasticity; optic atrophy; primary ovarian failure",
"entity_name": "EIF2B4",
"entity_type": "gene"
},
{
"created": "2022-03-31T15:55:05.596561+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PADI6 as ready",
"entity_name": "PADI6",
"entity_type": "gene"
},
{
"created": "2022-03-31T15:55:05.586523+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: padi6 has been classified as Green List (High Evidence).",
"entity_name": "PADI6",
"entity_type": "gene"
},
{
"created": "2022-03-31T15:54:55.636947+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PADI6 were changed from to Pre-implantation embryonic lethality 2 MIM#617234; Multi locus imprinting disturbance in offspring; Recurrent hydatiform mole",
"entity_name": "PADI6",
"entity_type": "gene"
},
{
"created": "2022-03-31T15:54:36.536355+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PADI6 were set to ",
"entity_name": "PADI6",
"entity_type": "gene"
},
{
"created": "2022-03-31T15:54:17.182075+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PADI6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PADI6",
"entity_type": "gene"
},
{
"created": "2022-03-31T15:53:15.878202+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PADI3 as ready",
"entity_name": "PADI3",
"entity_type": "gene"
},
{
"created": "2022-03-31T15:53:15.865604+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: padi3 has been classified as Green List (High Evidence).",
"entity_name": "PADI3",
"entity_type": "gene"
},
{
"created": "2022-03-31T15:53:07.505747+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PADI3 were changed from to Uncombable hair syndrome - MIM#191480",
"entity_name": "PADI3",
"entity_type": "gene"
},
{
"created": "2022-03-31T15:51:33.413068+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PADI3 were set to ",
"entity_name": "PADI3",
"entity_type": "gene"
},
{
"created": "2022-03-31T15:51:09.821611+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PADI3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PADI3",
"entity_type": "gene"
},
{
"created": "2022-03-31T15:50:21.474955+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PACS2 as ready",
"entity_name": "PACS2",
"entity_type": "gene"
},
{
"created": "2022-03-31T15:50:21.462823+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pacs2 has been classified as Green List (High Evidence).",
"entity_name": "PACS2",
"entity_type": "gene"
},
{
"created": "2022-03-31T15:50:18.685501+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PACS2 were changed from to Developmental and epileptic encephalopathy 66 - MIM#618067",
"entity_name": "PACS2",
"entity_type": "gene"
},
{
"created": "2022-03-31T15:49:42.730945+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PACS2 were set to ",
"entity_name": "PACS2",
"entity_type": "gene"
},
{
"created": "2022-03-31T15:49:04.155439+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PACS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PACS2",
"entity_type": "gene"
},
{
"created": "2022-03-31T15:48:25.616463+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PACS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29656858, 34894068, 34859793; Phenotypes: Developmental and epileptic encephalopathy 66 - MIM#618067; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PACS2",
"entity_type": "gene"
},
{
"created": "2022-03-31T15:47:37.344137+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PACS2 as ready",
"entity_name": "PACS2",
"entity_type": "gene"
},
{
"created": "2022-03-31T15:47:37.333334+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pacs2 has been classified as Green List (High Evidence).",
"entity_name": "PACS2",
"entity_type": "gene"
},
{
"created": "2022-03-31T15:47:29.555850+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PACS2 were changed from to Developmental and epileptic encephalopathy 66 - MIM#618067",
"entity_name": "PACS2",
"entity_type": "gene"
},
{
"created": "2022-03-31T15:47:08.368615+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PACS2 were set to ",
"entity_name": "PACS2",
"entity_type": "gene"
},
{
"created": "2022-03-31T15:46:45.858722+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PACS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PACS2",
"entity_type": "gene"
},
{
"created": "2022-03-31T15:45:56.869199+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PABPN1 as ready",
"entity_name": "PABPN1",
"entity_type": "gene"
},
{
"created": "2022-03-31T15:45:56.857299+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pabpn1 has been classified as Green List (High Evidence).",
"entity_name": "PABPN1",
"entity_type": "gene"
},
{
"created": "2022-03-31T15:45:43.209388+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PABPN1 were changed from to Oculopharyngeal muscular dystrophy - MIM#164300",
"entity_name": "PABPN1",
"entity_type": "gene"
},
{
"created": "2022-03-31T15:45:22.143691+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PABPN1 were set to ",
"entity_name": "PABPN1",
"entity_type": "gene"
},
{
"created": "2022-03-31T15:44:57.817726+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag STR tag was added to gene: PABPN1.",
"entity_name": "PABPN1",
"entity_type": "gene"
},
{
"created": "2022-03-31T15:44:43.792120+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PABPN1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PABPN1",
"entity_type": "gene"
},
{
"created": "2022-03-31T15:42:56.628787+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGK as ready",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2022-03-31T15:42:56.618664+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agk has been classified as Green List (High Evidence).",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2022-03-31T15:42:43.512566+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGK were changed from to Sengers syndrome, MIM#212350; Cataract 38 MIM#614691",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2022-03-31T15:42:17.799375+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AGK were set to ",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2022-03-31T15:40:53.924488+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AGK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2022-03-31T11:51:08.692020+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12323",
"user_name": "Manny Jacobs",
"item_type": "entity",
"text": "reviewed gene: TTBK2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 18037885, 31485862, 20667868, 27165044; Phenotypes: Spinocerebellar ataxia 11, MIM# 604432, MONDO:0011464; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TTBK2",
"entity_type": "gene"
},
{
"created": "2022-03-31T11:49:52.980741+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12323",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EIF2B5 as ready",
"entity_name": "EIF2B5",
"entity_type": "gene"
},
{
"created": "2022-03-31T11:49:52.969197+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12323",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: eif2b5 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B5",
"entity_type": "gene"
},
{
"created": "2022-03-31T10:58:55.887292+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.40",
"user_name": "Manny Jacobs",
"item_type": "entity",
"text": "reviewed gene: TTLL5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24791901, 34203883, 28356705; Phenotypes: Cone-rod dystrophy 19, MIM# 615860, MONDO:0014372; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTLL5",
"entity_type": "gene"
},
{
"created": "2022-03-31T10:58:50.535794+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12323",
"user_name": "Manny Jacobs",
"item_type": "entity",
"text": "reviewed gene: TTLL5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24791901, 34203883, 28356705; Phenotypes: Cone-rod dystrophy 19, MIM# 615860, MONDO:0014372; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTLL5",
"entity_type": "gene"
},
{
"created": "2022-03-31T09:55:29.244940+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12323",
"user_name": "Manny Jacobs",
"item_type": "entity",
"text": "reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:1570831, 1626570, 16115295, 16194874, 26537620; Phenotypes: Amyloidosis, hereditary, transthyretin-related, MIM #105210, Carpal tunnel syndrome, familial, MIM# 115430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2022-03-31T09:24:15.578057+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.22",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "changed review comment from: PMID: 27014949- The leu167del variant has also been associated with hypercholesterolaemia, it only has 3 hets 0 homs in v2. It has been seen to segregate in several families with ADH\r\n\r\nPMID: 34058468 also lists many more variants have been previously reported and associated with a range of dyslipoproteinemias in table 1. Arg163Cys was seen to segregate in a het mother with raised LDL cholesterol and in her homozygote son who had even higher LDL cholesterol. Leu167del and 2 other missense variant have also been seen to segregate in families with familial combined hyperlipidemia.\r\n\r\nThere is also a lot of talk in the literature about the 3 main alleles of APOE- E3 is wild type with Cys130 (previously 112) and Arg176 (previously 158) (PMID: 33679311). \r\nThe E2 allele (with the Arg176Cys variant) has been associated with hyperlipoproteinemia, type III when homozygous, but it seems to be essentially only a risk factor and only causes disease in the presence of other environmental/genetic risk factors (PMID: 34058468). E2 is also a protective factor against Alzheimer’s. \r\nE4 is a risk factor for alzhiemers disease and has the Cys130Arg variant, it is also associated with increased LDL cholesterol levels and thus associated with cardiovascular disease risk (PMID: 34058468).\r\nHowever it is worth noting that the Arg176Cys variant has 10,066 hets and 465 homs in gnomad v2, and Cys130Arg has 24,455 hets and 2091 homs.\r\n\r\nTherefore it seems like there are some risk factor variant in APOE that are very high in the population, but also some genuine variants with reasonable population counts that are associated with a range of hypercholesterolaemias/dyslipoproteinemias.; to: PMID: 27014949- The leu167del variant has also been associated with hypercholesterolaemia, it only has 3 hets 0 homs in v2. It has been seen to segregate in several families with autosomal dominant hypercholesterolemia.\r\n\r\nPMID: 34058468 also lists many more variants have been previously reported and associated with a range of dyslipoproteinemias in table 1. Arg163Cys was seen to segregate in a het mother with raised LDL cholesterol and in her homozygote son who had even higher LDL cholesterol. Leu167del and 2 other missense variant have also been seen to segregate in families with familial combined hyperlipidemia.\r\n\r\nThere is also a lot of talk in the literature about the 3 main alleles of APOE- E3 is wild type with Cys130 (previously 112) and Arg176 (previously 158) (PMID: 33679311). \r\nThe E2 allele (with the Arg176Cys variant) has been associated with hyperlipoproteinemia, type III when homozygous, but it seems to be essentially only a risk factor and only causes disease in the presence of other environmental/genetic risk factors (PMID: 34058468). E2 is also a protective factor against Alzheimer’s. \r\nE4 is a risk factor for alzhiemers disease and has the Cys130Arg variant, it is also associated with increased LDL cholesterol levels and thus associated with cardiovascular disease risk (PMID: 34058468).\r\nHowever it is worth noting that the Arg176Cys variant has 10,066 hets and 465 homs in gnomad v2, and Cys130Arg has 24,455 hets and 2091 homs.\r\n\r\nTherefore it seems like there are some risk factor variant in APOE that are very high in the population, but also some genuine variants with reasonable population counts that are associated with a range of hypercholesterolaemias/dyslipoproteinemias.",
"entity_name": "APOE",
"entity_type": "gene"
},
{
"created": "2022-03-31T09:23:51.842344+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.22",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: APOE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27014949, 34058468, 33679311; Phenotypes: Hyperlipoproteinemia, type III (MIM#617347), Sea-blue histiocyte disease (MIM#269600); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "APOE",
"entity_type": "gene"
},
{
"created": "2022-03-31T09:23:40.894203+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12323",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: EIF2B5 were changed from to leukoencephalopathy with vanishing white matter MONDO:0011380; ataxia; spasticity; optic atrophy; primary ovarian failure",
"entity_name": "EIF2B5",
"entity_type": "gene"
},
{
"created": "2022-03-31T09:04:43.004633+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12322",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: EIF2B5 were set to ",
"entity_name": "EIF2B5",
"entity_type": "gene"
},
{
"created": "2022-03-30T16:31:47.328411+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EFNA4 were changed from to Coronal and metopic craniosynostosis",
"entity_name": "EFNA4",
"entity_type": "gene"
},
{
"created": "2022-03-30T14:31:21.270137+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EFNA4 were set to ",
"entity_name": "EFNA4",
"entity_type": "gene"
},
{
"created": "2022-03-30T14:30:51.947561+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EFNA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EFNA4",
"entity_type": "gene"
},
{
"created": "2022-03-30T14:29:42.510442+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: P3H2 as ready",
"entity_name": "P3H2",
"entity_type": "gene"
},
{
"created": "2022-03-30T14:29:42.498100+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: p3h2 has been classified as Green List (High Evidence).",
"entity_name": "P3H2",
"entity_type": "gene"
},
{
"created": "2022-03-30T14:28:17.348586+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: P3H2 were changed from to Myopia, high, with cataract and vitreoretinal degeneration - MIM#614292",
"entity_name": "P3H2",
"entity_type": "gene"
},
{
"created": "2022-03-30T14:27:37.283943+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.323",
"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": "2022-03-30T14:27:17.192334+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: P3H2 were set to ",
"entity_name": "P3H2",
"entity_type": "gene"
},
{
"created": "2022-03-30T14:26:45.459557+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: P3H2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "P3H2",
"entity_type": "gene"
},
{
"created": "2022-03-30T14:25:54.518417+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: P3H2 as ready",
"entity_name": "P3H2",
"entity_type": "gene"
},
{
"created": "2022-03-30T14:25:54.506623+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: p3h2 has been classified as Green List (High Evidence).",
"entity_name": "P3H2",
"entity_type": "gene"
},
{
"created": "2022-03-30T14:25:41.094037+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: P3H2 were changed from to Myopia, high, with cataract and vitreoretinal degeneration - MIM#614292",
"entity_name": "P3H2",
"entity_type": "gene"
},
{
"created": "2022-03-30T14:25:12.401340+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: P3H2 were set to ",
"entity_name": "P3H2",
"entity_type": "gene"
},
{
"created": "2022-03-30T14:24:44.441196+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: P3H2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "P3H2",
"entity_type": "gene"
},
{
"created": "2022-03-30T14:16:02.335293+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADRB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ADRB2",
"entity_type": "gene"
},
{
"created": "2022-03-30T13:49:15.429650+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12317",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: EIF2B5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EIF2B5",
"entity_type": "gene"
},
{
"created": "2022-03-30T13:46:00.671983+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12316",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: AKT3 as ready",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2022-03-30T13:46:00.661363+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12316",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: akt3 has been classified as Green List (High Evidence).",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2022-03-30T13:32:09.752657+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12316",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: EIF2B5: Rating: GREEN; Mode of pathogenicity: None; Publications: 11704758, 12325082, 12707859, 14694060, 15136689, 18263758, 25843247, 25761052; Phenotypes: leukoencephalopathy with vanishing white matter MONDO:0011380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "EIF2B5",
"entity_type": "gene"
},
{
"created": "2022-03-30T13:29:44.979412+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12316",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EIF2B4 as ready",
"entity_name": "EIF2B4",
"entity_type": "gene"
},
{
"created": "2022-03-30T13:29:44.969341+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12316",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: eif2b4 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B4",
"entity_type": "gene"
},
{
"created": "2022-03-30T13:29:14.852474+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12316",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "EIF2B5",
"entity_type": "gene"
},
{
"created": "2022-03-30T13:28:29.247446+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12316",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: AKT3 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 MIM#615937",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2022-03-30T13:28:27.378117+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12316",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: AKT3 were set to ",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2022-03-30T13:28:17.398799+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12315",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: AKT3 was changed from to Other",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2022-03-30T13:28:14.504528+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12315",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: AKT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2022-03-30T13:27:45.565455+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12314",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: AKT3: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 22729224; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 MIM#615937; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2022-03-30T13:25:43.270787+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12314",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: EIF2B4 were changed from to leukoencephalopathy with vanishing white matter MONDO:0011380; ataxia; spasticity; optic atrophy; primary ovarian failure",
"entity_name": "EIF2B4",
"entity_type": "gene"
},
{
"created": "2022-03-30T13:23:00.513147+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12313",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: EIF2B4 were set to ",
"entity_name": "EIF2B4",
"entity_type": "gene"
},
{
"created": "2022-03-30T13:20:46.575872+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12312",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: EIF2B4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EIF2B4",
"entity_type": "gene"
},
{
"created": "2022-03-30T13:20:13.385182+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12311",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: EIF2B4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11835386, 12707859, 18263758, 25843247, 25761052, 30014503; Phenotypes: leukoencephalopathy with vanishing white matter MONDO:0011380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "EIF2B4",
"entity_type": "gene"
},
{
"created": "2022-03-30T13:13:38.026206+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12311",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "EIF2B4",
"entity_type": "gene"
},
{
"created": "2022-03-30T13:11:55.144755+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12311",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EIF2B3 as ready",
"entity_name": "EIF2B3",
"entity_type": "gene"
},
{
"created": "2022-03-30T13:11:55.124510+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12311",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: eif2b3 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B3",
"entity_type": "gene"
},
{
"created": "2022-03-30T13:09:57.352856+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AFP as ready",
"entity_name": "AFP",
"entity_type": "gene"
},
{
"created": "2022-03-30T13:09:57.347505+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Raised or low levels of AFP are observed in some medical conditions, kept Amber due to possible phenotypic overlap.",
"entity_name": "AFP",
"entity_type": "gene"
},
{
"created": "2022-03-30T13:09:57.298420+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: afp has been classified as Amber List (Moderate Evidence).",
"entity_name": "AFP",
"entity_type": "gene"
},
{
"created": "2022-03-30T13:09:13.985950+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AFP were changed from to Alpha-fetoprotein deficiency MIM#615969; [Hereditary persistence of alpha-fetoprotein] MIM#615970",
"entity_name": "AFP",
"entity_type": "gene"
},
{
"created": "2022-03-30T13:08:49.972927+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AFP were set to ",
"entity_name": "AFP",
"entity_type": "gene"
},
{
"created": "2022-03-30T13:08:25.600258+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AFP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AFP",
"entity_type": "gene"
},
{
"created": "2022-03-30T13:08:02.436496+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AFP as Amber List (moderate evidence)",
"entity_name": "AFP",
"entity_type": "gene"
},
{
"created": "2022-03-30T13:08:02.424185+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: afp has been classified as Amber List (Moderate Evidence).",
"entity_name": "AFP",
"entity_type": "gene"
},
{
"created": "2022-03-30T13:06:29.734539+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12307",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: EIF2B3 were changed from to leukoencephalopathy with vanishing white matter MONDO:0011380; ataxia; spasticity; optic atrophy",
"entity_name": "EIF2B3",
"entity_type": "gene"
},
{
"created": "2022-03-30T13:04:50.889134+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12306",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: EIF2B3 were set to ",
"entity_name": "EIF2B3",
"entity_type": "gene"
},
{
"created": "2022-03-30T13:03:16.312543+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12305",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: EIF2B3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EIF2B3",
"entity_type": "gene"
},
{
"created": "2022-03-30T13:00:27.598379+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12304",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: EIF2B3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11835386, 19158808, 21484434, 18263758, 25843247, 25761052, 28904586, 28597716; Phenotypes: leukoencephalopathy with vanishing white matter MONDO:0011380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "EIF2B3",
"entity_type": "gene"
},
{
"created": "2022-03-30T13:00:12.565011+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12304",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: Glu143Lys found in 4 Israeli Bedouin families\r\n\r\n2 other unrelated families reported with 1 missense (LoF demosntrated), 1 splice (aberrant splicing proven) and 1 fs (protein truncating, not NMD); to: Glu143Lys found in 4 Israeli Bedouin families\r\n\r\n2 other unrelated families reported with 1 missense (LoF demonstrated), 1 splice (aberrant splicing proven) and 1 fs (protein truncating, not NMD)",
"entity_name": "CA12",
"entity_type": "gene"
},
{
"created": "2022-03-30T12:53:00.535027+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12304",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "EIF2B3",
"entity_type": "gene"
},
{
"created": "2022-03-30T12:46:20.188565+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12304",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: AHCY as ready",
"entity_name": "AHCY",
"entity_type": "gene"
},
{
"created": "2022-03-30T12:46:20.171735+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12304",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: ahcy has been classified as Green List (High Evidence).",
"entity_name": "AHCY",
"entity_type": "gene"
},
{
"created": "2022-03-30T12:43:23.220339+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12304",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: AHCY were changed from to Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752",
"entity_name": "AHCY",
"entity_type": "gene"
}
]
}