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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=899",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=897",
"results": [
{
"created": "2022-04-02T09:24:38.413108+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RIPOR2: Changed phenotypes: Deafness, autosomal recessive 104, MIM# 616515, Deafness, autosomal dominant 21, MIM# 607017",
"entity_name": "RIPOR2",
"entity_type": "gene"
},
{
"created": "2022-04-01T21:25:44.612824+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12453",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33199448; Phenotypes: Combined oxidative phosphorylation deficiency 13, OMIM:614932; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNPT1",
"entity_type": "gene"
},
{
"created": "2022-04-01T20:11:41.180834+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12453",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: EPOR were changed from to primary familial polycythemia due to EPO receptor mutation MONDO:0007572",
"entity_name": "EPOR",
"entity_type": "gene"
},
{
"created": "2022-04-01T20:08:57.528245+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12452",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: EPOR were set to ",
"entity_name": "EPOR",
"entity_type": "gene"
},
{
"created": "2022-04-01T20:08:43.379532+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12451",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: EPS8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24741995, 27344577, 30303587, 34637946, 21526224; Phenotypes: Autosomal recessive nonsyndromic hearing loss 102 MONDO:0014428; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EPS8",
"entity_type": "gene"
},
{
"created": "2022-04-01T20:06:18.481896+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12451",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: EPOR was changed from to Other",
"entity_name": "EPOR",
"entity_type": "gene"
},
{
"created": "2022-04-01T19:51:29.449193+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12450",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: EPOR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EPOR",
"entity_type": "gene"
},
{
"created": "2022-04-01T19:48:06.911149+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12449",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: EPOR: Rating: GREEN; Mode of pathogenicity: Other; Publications: 8506290, 11559951, 17488692, 18492694, 30507031; Phenotypes: primary familial polycythemia due to EPO receptor mutation MONDO:0007572; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EPOR",
"entity_type": "gene"
},
{
"created": "2022-04-01T18:37:11.739872+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC30A8 as ready",
"entity_name": "SLC30A8",
"entity_type": "gene"
},
{
"created": "2022-04-01T18:37:11.730676+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc30a8 has been classified as Red List (Low Evidence).",
"entity_name": "SLC30A8",
"entity_type": "gene"
},
{
"created": "2022-04-01T18:29:12.624243+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC30A8 were changed from to {Diabetes mellitus, noninsulin-dependent, susceptibility to}, MIM# 125853",
"entity_name": "SLC30A8",
"entity_type": "gene"
},
{
"created": "2022-04-01T18:28:51.013079+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC30A8 were set to ",
"entity_name": "SLC30A8",
"entity_type": "gene"
},
{
"created": "2022-04-01T18:27:12.139990+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12447",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC30A8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC30A8",
"entity_type": "gene"
},
{
"created": "2022-04-01T18:14:48.175648+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC30A8 as Red List (low evidence)",
"entity_name": "SLC30A8",
"entity_type": "gene"
},
{
"created": "2022-04-01T18:14:48.164539+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12446",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc30a8 has been classified as Red List (Low Evidence).",
"entity_name": "SLC30A8",
"entity_type": "gene"
},
{
"created": "2022-04-01T18:14:29.893267+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC30A8: Rating: RED; Mode of pathogenicity: None; Publications: 17293876; Phenotypes: {Diabetes mellitus, noninsulin-dependent, susceptibility to}, MIM# 125853; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC30A8",
"entity_type": "gene"
},
{
"created": "2022-04-01T18:08:20.150785+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Infantile hypercalcaemia and bi-allelic variants: More than 5 unrelated families reported.\r\n\r\nNephrolithiasis and mono-allelic variants: multiple families reported.; to: Infantile hypercalcaemia and bi-allelic variants: More than 5 unrelated families reported.\r\n\r\nNephrolithiasis and mono-allelic variants: multiple families reported.\r\n\r\nSingle family reported with renal Fanconi and homozygous variant.",
"entity_name": "SLC34A1",
"entity_type": "gene"
},
{
"created": "2022-04-01T18:02:20.719977+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC34A1 as ready",
"entity_name": "SLC34A1",
"entity_type": "gene"
},
{
"created": "2022-04-01T18:02:20.708982+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc34a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC34A1",
"entity_type": "gene"
},
{
"created": "2022-04-01T18:02:07.236386+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12445",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC34A1 were changed from to Hypercalcaemia, infantile, 2 MIM#616963; Nephrolithiasis/osteoporosis, hypophosphatemic, 1 612286",
"entity_name": "SLC34A1",
"entity_type": "gene"
},
{
"created": "2022-04-01T18:01:45.637658+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12444",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC34A1 were set to ",
"entity_name": "SLC34A1",
"entity_type": "gene"
},
{
"created": "2022-04-01T18:01:25.273497+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12443",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC34A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC34A1",
"entity_type": "gene"
},
{
"created": "2022-04-01T18:01:03.424040+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC34A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26047794, 33516786, 33099630, 32866123, 31188746, 30943683, 12324554, 32216560, 30778725; Phenotypes: Hypercalcaemia, infantile, 2 MIM#616963, Nephrolithiasis/osteoporosis, hypophosphatemic, 1 612286; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC34A1",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:54:18.895620+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC34A2 as ready",
"entity_name": "SLC34A2",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:54:18.884210+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc34a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC34A2",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:53:10.565603+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC34A2 were changed from to Pulmonary alveolar microlithiasis, MIM# 265100",
"entity_name": "SLC34A2",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:52:51.361259+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12441",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC34A2 were set to ",
"entity_name": "SLC34A2",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:52:29.223858+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC34A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC34A2",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:52:09.670636+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC34A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16960801, 34581165, 33884208, 32328294, 31941744; Phenotypes: Pulmonary alveolar microlithiasis, MIM# 265100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC34A2",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:48:08.039124+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC35A1 as ready",
"entity_name": "SLC35A1",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:48:08.025608+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc35a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC35A1",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:47:57.774864+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12439",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EPO as ready",
"entity_name": "EPO",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:47:57.762230+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12439",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: epo has been classified as Green List (High Evidence).",
"entity_name": "EPO",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:47:53.902871+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC35A1 were changed from to Congenital disorder of glycosylation, type IIf, MIM# 603585",
"entity_name": "SLC35A1",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:47:35.511420+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC35A1 were set to ",
"entity_name": "SLC35A1",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:47:17.134881+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC35A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC35A1",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:46:54.957743+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC35A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28856833, 23873973, 11157507; Phenotypes: Congenital disorder of glycosylation, type IIf, MIM# 603585; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC35A1",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:46:53.759972+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12436",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: EPO were changed from to erythrocytosis, familial, 5 MONDO:0033483",
"entity_name": "EPO",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:45:16.238583+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC39A13 as ready",
"entity_name": "SLC39A13",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:45:16.226638+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc39a13 has been classified as Green List (High Evidence).",
"entity_name": "SLC39A13",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:45:08.566117+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC39A13 were changed from to Ehlers-Danlos syndrome, spondylodysplastic type, 3, MIM# 612350",
"entity_name": "SLC39A13",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:44:18.733970+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC39A13 were set to ",
"entity_name": "SLC39A13",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:43:59.548391+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC39A13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC39A13",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:43:39.893921+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC39A13: Rating: GREEN; Mode of pathogenicity: None; Publications: 18985159, 18513683, 28306229, 28306225; Phenotypes: Ehlers-Danlos syndrome, spondylodysplastic type, 3, MIM# 612350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC39A13",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:41:48.693962+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC39A5 as ready",
"entity_name": "SLC39A5",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:41:48.684569+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc39a5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC39A5",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:41:40.965567+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC39A5 were changed from to Myopia 24, autosomal dominant, MIM# 615946",
"entity_name": "SLC39A5",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:41:21.548778+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC39A5 were set to ",
"entity_name": "SLC39A5",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:40:58.912309+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12430",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: PMID: 27651169, 29514032, 25985138 - At least 4 families reported with heterozygous variants segregating with erythrocytosis. Mechanism of disease is gain-of-function. Frameshift variants identified (c.32delG, c.19delC) use of an alternative promoter (P2) in intron 1 causing the production of functional transcripts and increased amounts of biologically active EPO compared to controls, and 5’UTR conserved variant (c.‐136G>A) and expected to have a similar mechanism.\r\n\r\nPMID: 28283061 - single proband from a consanguineous family with severe anaemia (Diamond-Blackfan anaemia phenotype) reported with a homozygous missense (R150Q) showing a mild reduction in its affinity for the EPO receptor; to: PMID: 27651169, 29514032, 25985138 - At least 4 families reported with heterozygous variants segregating with erythrocytosis. Mechanism of disease is gain-of-function. Frameshift variants identified (c.32delG, c.19delC) use of an alternative promoter (P2) in intron 1 causing the production of functional transcripts and increased amounts of biologically active EPO compared to controls, and 5’UTR conserved variant (c.‐136G>A) expected to have a similar mechanism.\r\n\r\nPMID: 28283061 - single proband from a consanguineous family with severe anaemia (Diamond-Blackfan anaemia phenotype) reported with a homozygous missense (R150Q) showing a mild reduction in its affinity for the EPO receptor",
"entity_name": "EPO",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:40:58.073407+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC39A5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC39A5",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:40:38.650038+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC39A5 as Amber List (moderate evidence)",
"entity_name": "SLC39A5",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:40:38.638983+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc39a5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC39A5",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:40:20.049089+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC39A5: Rating: AMBER; Mode of pathogenicity: None; Publications: 35002215, 34302427, 31560770, 24891338; Phenotypes: Myopia 24, autosomal dominant, MIM# 615946; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC39A5",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:39:56.118561+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12428",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: EPO were set to ",
"entity_name": "EPO",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:38:50.490022+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12427",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: EPO was changed from to Other",
"entity_name": "EPO",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:37:40.191038+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12426",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EPM2A as ready",
"entity_name": "EPM2A",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:37:40.181728+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12426",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: epm2a has been classified as Green List (High Evidence).",
"entity_name": "EPM2A",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:37:32.435859+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12426",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: EPO was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EPO",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:36:34.675660+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12425",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: EPO: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27651169, 29514032, 25985138, 28283061; Phenotypes: erythrocytosis, familial, 5 MONDO:0033483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EPO",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:02:33.853423+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12425",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: EPM2A were changed from to Lafora disease MONDO:0009697",
"entity_name": "EPM2A",
"entity_type": "gene"
},
{
"created": "2022-04-01T17:00:53.971807+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12424",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: EPM2A were set to ",
"entity_name": "EPM2A",
"entity_type": "gene"
},
{
"created": "2022-04-01T16:54:08.809407+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12423",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: EPM2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EPM2A",
"entity_type": "gene"
},
{
"created": "2022-04-01T16:52:12.574958+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12422",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: EPM2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 9771710, 9931343, 11175283, 12019207, 12560877, 14722920; Phenotypes: Lafora disease MONDO:0009697; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EPM2A",
"entity_type": "gene"
},
{
"created": "2022-04-01T16:49:41.370463+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12422",
"user_name": "Manny Jacobs",
"item_type": "entity",
"text": "reviewed gene: TSHB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 1971148, 12364478, 2792087, 34780050, 31166470, 35102753, 29546359; Phenotypes: Hypothyroidism, congenital, nongoitrous 4, MIM# 275100; Mode of inheritance: None",
"entity_name": "TSHB",
"entity_type": "gene"
},
{
"created": "2022-04-01T16:22:24.177751+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12422",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EPHA3 as ready",
"entity_name": "EPHA3",
"entity_type": "gene"
},
{
"created": "2022-04-01T16:22:24.163992+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12422",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: epha3 has been classified as Red List (Low Evidence).",
"entity_name": "EPHA3",
"entity_type": "gene"
},
{
"created": "2022-04-01T16:20:07.231290+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12422",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EPHA3 as Red List (low evidence)",
"entity_name": "EPHA3",
"entity_type": "gene"
},
{
"created": "2022-04-01T16:20:07.215144+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12422",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: epha3 has been classified as Red List (Low Evidence).",
"entity_name": "EPHA3",
"entity_type": "gene"
},
{
"created": "2022-04-01T16:19:51.495670+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12421",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EPHA2 as ready",
"entity_name": "EPHA2",
"entity_type": "gene"
},
{
"created": "2022-04-01T16:19:51.484741+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12421",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: epha2 has been classified as Green List (High Evidence).",
"entity_name": "EPHA2",
"entity_type": "gene"
},
{
"created": "2022-04-01T16:19:38.692822+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12421",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: EPHA3: Rating: RED; Mode of pathogenicity: None; Publications: 29932736, 21996756; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "EPHA3",
"entity_type": "gene"
},
{
"created": "2022-04-01T16:16:59.816670+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12421",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: EPHA2 were changed from to cataract 6 multiple types MONDO:0007288",
"entity_name": "EPHA2",
"entity_type": "gene"
},
{
"created": "2022-04-01T16:07:31.382069+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC39A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 26637978, 26637979; Phenotypes: Congenital disorder of glycosylation, type IIn , MIM#16721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC39A8",
"entity_type": "gene"
},
{
"created": "2022-04-01T16:05:33.191570+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC40A1 as ready",
"entity_name": "SLC40A1",
"entity_type": "gene"
},
{
"created": "2022-04-01T16:05:33.170999+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc40a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC40A1",
"entity_type": "gene"
},
{
"created": "2022-04-01T16:05:24.483037+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12420",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC40A1 were changed from to Haemochromatosis, type 4, MIM# 606069",
"entity_name": "SLC40A1",
"entity_type": "gene"
},
{
"created": "2022-04-01T16:05:00.123837+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12419",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC40A1 were set to ",
"entity_name": "SLC40A1",
"entity_type": "gene"
},
{
"created": "2022-04-01T16:04:37.003962+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12418",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC40A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC40A1",
"entity_type": "gene"
},
{
"created": "2022-04-01T16:04:17.536309+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12417",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC40A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11431687, 11518736, 15956209, 16351644; Phenotypes: Haemochromatosis, type 4 606069; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC40A1",
"entity_type": "gene"
},
{
"created": "2022-04-01T16:02:48.508413+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12417",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: EPHA2 were set to ",
"entity_name": "EPHA2",
"entity_type": "gene"
},
{
"created": "2022-04-01T16:01:46.893514+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12416",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: EPHA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EPHA2",
"entity_type": "gene"
},
{
"created": "2022-04-01T16:01:00.258986+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12415",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: EPHA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19005574, 19649315, 19306328, 33671840; Phenotypes: cataract 6 multiple types MONDO:0007288; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EPHA2",
"entity_type": "gene"
},
{
"created": "2022-04-01T16:00:14.502068+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC4A11 as ready",
"entity_name": "SLC4A11",
"entity_type": "gene"
},
{
"created": "2022-04-01T16:00:14.488983+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc4a11 has been classified as Green List (High Evidence).",
"entity_name": "SLC4A11",
"entity_type": "gene"
},
{
"created": "2022-04-01T16:00:06.355770+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC4A11 were changed from to Corneal dystrophy, Fuchs endothelial, 4, MIM# 613268; Corneal endothelial dystrophy and perceptive deafness, MIM# 217400; Corneal endothelial dystrophy, autosomal recessive, MIM# 217700",
"entity_name": "SLC4A11",
"entity_type": "gene"
},
{
"created": "2022-04-01T15:59:44.890077+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC4A11 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC4A11",
"entity_type": "gene"
},
{
"created": "2022-04-01T15:59:24.967471+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC4A11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Corneal dystrophy, Fuchs endothelial, 4, MIM# 613268, Corneal endothelial dystrophy and perceptive deafness, MIM# 217400, Corneal endothelial dystrophy, autosomal recessive, MIM# 217700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC4A11",
"entity_type": "gene"
},
{
"created": "2022-04-01T15:57:08.873000+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC4A4 as ready",
"entity_name": "SLC4A4",
"entity_type": "gene"
},
{
"created": "2022-04-01T15:57:08.859465+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc4a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC4A4",
"entity_type": "gene"
},
{
"created": "2022-04-01T15:57:00.600473+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC4A4 were changed from to Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278; Hemiplegic migraine",
"entity_name": "SLC4A4",
"entity_type": "gene"
},
{
"created": "2022-04-01T15:56:40.402211+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC4A4 were set to ",
"entity_name": "SLC4A4",
"entity_type": "gene"
},
{
"created": "2022-04-01T15:56:15.060306+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC4A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC4A4",
"entity_type": "gene"
},
{
"created": "2022-04-01T15:55:55.489914+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC4A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10545938, 11274232, 35260236, 33439394, 29914390; Phenotypes: Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278, Hemiplegic migraine; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC4A4",
"entity_type": "gene"
},
{
"created": "2022-04-01T15:53:14.751436+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12410",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ENO3 as ready",
"entity_name": "ENO3",
"entity_type": "gene"
},
{
"created": "2022-04-01T15:53:14.740393+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12410",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: eno3 has been classified as Green List (High Evidence).",
"entity_name": "ENO3",
"entity_type": "gene"
},
{
"created": "2022-04-01T15:51:59.567943+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12410",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ENO3 were changed from to glycogen storage disease due to muscle beta-enolase deficiency MONDO:0013046",
"entity_name": "ENO3",
"entity_type": "gene"
},
{
"created": "2022-04-01T15:50:44.848662+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12409",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ENO3 were set to ",
"entity_name": "ENO3",
"entity_type": "gene"
},
{
"created": "2022-04-01T15:44:54.189238+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12408",
"user_name": "Manny Jacobs",
"item_type": "entity",
"text": "reviewed gene: TSHR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 7920658, 7800007, 8964822, 9329388, 9185526, 9100579; Phenotypes: Hyperthyroidism, familial gestational, MIM # 603373, MONDO:0011309, Hyperthyroidism, nonautoimmune, MIM# 609152, Hypothyroidism, congenital, nongoitrous, 1, MIM# 275200, MONDO:0000045; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TSHR",
"entity_type": "gene"
},
{
"created": "2022-04-01T15:39:15.456333+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12408",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: ENO3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ENO3",
"entity_type": "gene"
},
{
"created": "2022-04-01T15:23:30.096299+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12407",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ENG as ready",
"entity_name": "ENG",
"entity_type": "gene"
}
]
}