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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=903",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=901",
"results": [
{
"created": "2022-03-30T12:43:22.550604+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12304",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: AHCY were set to ",
"entity_name": "AHCY",
"entity_type": "gene"
},
{
"created": "2022-03-30T12:40:55.534859+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12303",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: AHCY was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AHCY",
"entity_type": "gene"
},
{
"created": "2022-03-30T12:22:00.434390+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12302",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EIF2B1 as ready",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2022-03-30T12:22:00.420978+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12302",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: eif2b1 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2022-03-30T12:17:36.454691+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12302",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: AGL were changed from to Glycogen storage disease IIIa and IIIb, MIM#232400",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2022-03-30T12:17:27.160938+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12302",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: AGL as ready",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2022-03-30T12:17:27.150167+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12302",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: agl has been classified as Green List (High Evidence).",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2022-03-30T12:17:25.692852+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12302",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: AGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2022-03-30T12:13:53.438885+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12301",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: EIF2B1 were changed from to leukoencephalopathy with vanishing white matter MONDO:0011380; ataxia; spasticity; optic atrophy",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2022-03-30T12:00:59.823208+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12300",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: EIF2B1 were set to ",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:59:59.388605+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12299",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: EIF2B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:59:37.445362+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12298",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: EIF2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11835386, 26285592, 15776425, 18263758, 25843247, 25761052, 30014503; Phenotypes: leukoencephalopathy with vanishing white matter MONDO:0011380, ataxia, spasticity, optic atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:55:30.572380+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12298",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:50:35.730445+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12298",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EIF2AK3 as ready",
"entity_name": "EIF2AK3",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:50:35.717418+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12298",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: eif2ak3 has been classified as Green List (High Evidence).",
"entity_name": "EIF2AK3",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:44:22.784820+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TIA1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "TIA1",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:44:02.211325+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TIA1 as Amber List (moderate evidence)",
"entity_name": "TIA1",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:44:02.194748+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tia1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TIA1",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:43:19.739056+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12296",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease IIIa and IIIb, MIM#232400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:43:16.922004+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12296",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: EIF2AK3 were changed from to Wolcott-Rallison syndrome MONDO:0009192; neonatal diabetes mellitus; epiphyseal dysplasia/osteopenia; hepatic/renal dysfunction; intellectual disability/developmental delay",
"entity_name": "EIF2AK3",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:43:16.331234+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TIA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29235362, 29886022, 29773329, 29699721, 29216908, 24659297, 29457785, 28817800, 23401021, 23401021; Phenotypes: Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia, MIM# 619133, Welander distal myopathy (MIM#604454); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "TIA1",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:42:11.278391+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12295",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: EIF2AK3 were set to ",
"entity_name": "EIF2AK3",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:40:32.617883+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12294",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: EIF2AK3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EIF2AK3",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:40:12.036340+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THSD1 as ready",
"entity_name": "THSD1",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:40:12.026350+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thsd1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "THSD1",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:40:00.983758+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THSD1 were changed from to Aneurysm, intracranial berry, 12 , MIM# 618734",
"entity_name": "THSD1",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:39:31.687696+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: THSD1 were set to ",
"entity_name": "THSD1",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:39:08.202046+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: THSD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "THSD1",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:38:37.382078+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: THSD1 as Amber List (moderate evidence)",
"entity_name": "THSD1",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:38:37.370768+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thsd1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "THSD1",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:38:15.375543+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: THSD1: Changed publications: 27895300",
"entity_name": "THSD1",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:37:55.492279+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: THSD1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Aneurysm, intracranial berry, 12 , MIM# 618734; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "THSD1",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:36:57.512584+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12289",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EFNA4 as ready",
"entity_name": "EFNA4",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:36:57.500078+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12289",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: efna4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EFNA4",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:36:51.470903+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12289",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: EIF2AK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10932183, 12960215, 16813601, 11997520, 20202148; Phenotypes: Wolcott-Rallison syndrome MONDO:0009192, neonatal diabetes mellitus, epiphyseal dysplasia/osteopenia, hepatic/renal dysfunction, intellectual disability/developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "EIF2AK3",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:34:42.242965+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12289",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: EFNA4 were changed from to craniosynostosis MONDO:0015469",
"entity_name": "EFNA4",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:30:44.293860+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBMX as ready",
"entity_name": "RBMX",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:30:44.282614+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbmx has been classified as Amber List (Moderate Evidence).",
"entity_name": "RBMX",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:30:34.839136+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RBMX as Amber List (moderate evidence)",
"entity_name": "RBMX",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:30:34.822813+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbmx has been classified as Amber List (Moderate Evidence).",
"entity_name": "RBMX",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:30:16.942246+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RBMX was added\ngene: RBMX was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: RBMX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: RBMX were set to 25256757; 34260915\nPhenotypes for gene: RBMX were set to Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238\nReview for gene: RBMX was set to AMBER\nAdded comment: Hemizygous truncating variant reported segregating in multiple affected individuals in a single family. Some supportive functional data. \nSources: Expert Review",
"entity_name": "RBMX",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:29:57.763217+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBMX as ready",
"entity_name": "RBMX",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:29:57.750975+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbmx has been classified as Amber List (Moderate Evidence).",
"entity_name": "RBMX",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:29:25.644104+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RBMX as Amber List (moderate evidence)",
"entity_name": "RBMX",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:29:25.634199+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbmx has been classified as Amber List (Moderate Evidence).",
"entity_name": "RBMX",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:24:46.342479+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RBMX was added\ngene: RBMX was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review\nMode of inheritance for gene: RBMX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: RBMX were set to 25256757; 34260915\nPhenotypes for gene: RBMX were set to Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238\nReview for gene: RBMX was set to AMBER\nAdded comment: Hemizygous truncating variant reported segregating in multiple affected individuals in a single family. Some supportive functional data. \nSources: Expert Review",
"entity_name": "RBMX",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:14:24.032158+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.321",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: AGK were set to 22415731; 25208612",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:14:07.661374+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12286",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: EFNA4 were set to ",
"entity_name": "EFNA4",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:14:03.513318+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.321",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: AGK were changed from Sengers syndrome, MIM#212350; Cataract 38 MIM#614691 to Sengers syndrome, MIM#212350; Cataract 38 MIM#614691",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:13:43.160593+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.321",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: AGK were changed from Sengers syndrome, MIM#212350; Cataract 38 MIM#614691 to Sengers syndrome, MIM#212350; Cataract 38 MIM#614691",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:13:22.417125+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.320",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: AGK was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:13:02.585519+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.320",
"user_name": "Elena Savva",
"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": "2022-03-30T11:12:42.677108+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.320",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: AGK were set to ",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:12:23.456656+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12285",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PADI6: Rating: GREEN; Mode of pathogenicity: None; Publications: 29693651, 33583041, 329228291, 33221824, 27545678; Phenotypes: Pre-implantation embryonic lethality 2 MIM#617234, Multi locus imprinting disturbance in offspring, Recurrent hydatiform mole; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PADI6",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:12:21.297279+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.320",
"user_name": "Elena Savva",
"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": "2022-03-30T11:12:14.444228+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.319",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: AGK as ready",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:12:14.428815+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.319",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: agk has been classified as Green List (High Evidence).",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:11:45.570575+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.319",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: AGK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22415731, 25208612; Phenotypes: Sengers syndrome, MIM#212350, Cataract 38 MIM#614691; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2022-03-30T11:09:56.362618+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12285",
"user_name": "Bryony Thompson",
"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": "2022-03-30T11:05:25.650466+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12284",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PADI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27866708, 22381266, 30763140; Phenotypes: Uncombable hair syndrome - MIM#191480; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PADI3",
"entity_type": "gene"
},
{
"created": "2022-03-30T10:54:32.741535+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12284",
"user_name": "Krithika Murali",
"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": "2022-03-30T10:53:11.379990+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12284",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EHBP1 as ready",
"entity_name": "EHBP1",
"entity_type": "gene"
},
{
"created": "2022-03-30T10:53:11.365515+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12284",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ehbp1 has been classified as Red List (Low Evidence).",
"entity_name": "EHBP1",
"entity_type": "gene"
},
{
"created": "2022-03-30T10:51:41.932039+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12284",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: EHBP1 were changed from to {Prostate cancer, hereditary, 12} MIM#611868",
"entity_name": "EHBP1",
"entity_type": "gene"
},
{
"created": "2022-03-30T10:50:08.929503+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12283",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EHBP1 as Red List (low evidence)",
"entity_name": "EHBP1",
"entity_type": "gene"
},
{
"created": "2022-03-30T10:50:08.917225+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12283",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ehbp1 has been classified as Red List (Low Evidence).",
"entity_name": "EHBP1",
"entity_type": "gene"
},
{
"created": "2022-03-30T10:49:12.654204+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12282",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: EHBP1: Rating: RED; Mode of pathogenicity: None; Publications: 18264098; Phenotypes: {Prostate cancer, hereditary, 12} MIM#611868; Mode of inheritance: None",
"entity_name": "EHBP1",
"entity_type": "gene"
},
{
"created": "2022-03-30T10:47:11.555831+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12282",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PABPN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19080757, 33805441; Phenotypes: Oculopharyngeal muscular dystrophy - MIM#164300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PABPN1",
"entity_type": "gene"
},
{
"created": "2022-03-30T10:40:00.866091+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12282",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: AGK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22415731, 25208612; Phenotypes: Sengers syndrome, MIM#212350, Cataract 38 MIM#614691; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2022-03-30T10:39:37.666542+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12282",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EDNRB as ready",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2022-03-30T10:39:37.654589+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12282",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ednrb has been classified as Green List (High Evidence).",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2022-03-30T10:38:37.223700+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12282",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: EFNA4 as Amber List (moderate evidence)",
"entity_name": "EFNA4",
"entity_type": "gene"
},
{
"created": "2022-03-30T10:38:37.200732+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12282",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: efna4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EFNA4",
"entity_type": "gene"
},
{
"created": "2022-03-30T10:37:50.536230+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12281",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: EFNA4: Rating: AMBER; Mode of pathogenicity: None; Publications: 16540516, 19201948, 19772933, 23983218, 29168297, 29215649, 33065355, 34586326; Phenotypes: craniosynostosis MONDO:0015469; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EFNA4",
"entity_type": "gene"
},
{
"created": "2022-03-30T10:10:42.162766+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.319",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: P3H2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21885030, 24172257, 25469533; Phenotypes: Myopia, high, with cataract and vitreoretinal degeneration - MIM#614292; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "P3H2",
"entity_type": "gene"
},
{
"created": "2022-03-30T10:10:38.556527+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12281",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: P3H2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21885030, 24172257, 25469533; Phenotypes: Myopia, high, with cataract and vitreoretinal degeneration - MIM#614292; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "P3H2",
"entity_type": "gene"
},
{
"created": "2022-03-30T10:05:38.257437+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12281",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: AFP: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 15280901, 18854864; Phenotypes: Alpha-fetoprotein deficiency MIM#615969, [Hereditary persistence of alpha-fetoprotein] MIM#615970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AFP",
"entity_type": "gene"
},
{
"created": "2022-03-30T09:57:41.200996+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12281",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ADRB2 as ready",
"entity_name": "ADRB2",
"entity_type": "gene"
},
{
"created": "2022-03-30T09:57:41.188799+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12281",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: adrb2 has been classified as Red List (Low Evidence).",
"entity_name": "ADRB2",
"entity_type": "gene"
},
{
"created": "2022-03-30T09:56:07.969504+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12281",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ADRB2 were changed from to Beta-2-adrenoreceptor agonist, reduced response to; {Asthma, nocturnal, susceptibility to} MIM#600807; {Obesity, susceptibility to} MIM#601665",
"entity_name": "ADRB2",
"entity_type": "gene"
},
{
"created": "2022-03-30T09:51:48.654896+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12280",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ADRB2 were set to ",
"entity_name": "ADRB2",
"entity_type": "gene"
},
{
"created": "2022-03-30T09:51:42.417795+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12280",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: ADRB2 as Red List (low evidence)",
"entity_name": "ADRB2",
"entity_type": "gene"
},
{
"created": "2022-03-30T09:51:42.404330+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12280",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: adrb2 has been classified as Red List (Low Evidence).",
"entity_name": "ADRB2",
"entity_type": "gene"
},
{
"created": "2022-03-30T09:26:17.562636+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THRB as ready",
"entity_name": "THRB",
"entity_type": "gene"
},
{
"created": "2022-03-30T09:26:17.553280+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thrb has been classified as Green List (High Evidence).",
"entity_name": "THRB",
"entity_type": "gene"
},
{
"created": "2022-03-30T09:25:44.317271+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THRB were changed from to Thyroid hormone resistance, MIM# 188570; Thyroid hormone resistance, autosomal recessive, MIM# 274300; Thyroid hormone resistance, selective pituitary, MIM# 145650",
"entity_name": "THRB",
"entity_type": "gene"
},
{
"created": "2022-03-30T09:25:20.697440+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: THRB were set to ",
"entity_name": "THRB",
"entity_type": "gene"
},
{
"created": "2022-03-30T09:24:59.154784+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: THRB was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "THRB",
"entity_type": "gene"
},
{
"created": "2022-03-30T09:24:39.558757+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: THRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 25135573, 31590893; Phenotypes: Thyroid hormone resistance, MIM# 188570, Thyroid hormone resistance, autosomal recessive, MIM# 274300, Thyroid hormone resistance, selective pituitary, MIM# 145650; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "THRB",
"entity_type": "gene"
},
{
"created": "2022-03-30T09:20:44.642882+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4641",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: WDR11 were changed from Neurodevelopmental disorder, MONDO:0700092, WDR11-related to Neurodevelopmental disorder, MONDO:0700092, WDR11-related",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2022-03-30T09:18:33.767839+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12276",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ADRB2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 15724149; Phenotypes: Beta-2-adrenoreceptor agonist, reduced response to, {Asthma, nocturnal, susceptibility to} MIM#600807, {Obesity, susceptibility to} MIM#601665; Mode of inheritance: Unknown",
"entity_name": "ADRB2",
"entity_type": "gene"
},
{
"created": "2022-03-30T09:09:34.854973+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4640",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: WDR11 were changed from Intellectual disability; Microcephaly; Short stature to Neurodevelopmental disorder, MONDO:0700092, WDR11-related",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2022-03-30T09:09:14.489855+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4640",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: WDR11 were set to 34413497",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2022-03-30T09:08:35.227689+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4639",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDR11 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2022-03-30T09:07:57.666398+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4638",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: WDR11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, WDR11-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:57:12.463749+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC6A2 as ready",
"entity_name": "SLC6A2",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:57:12.452758+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a2 has been classified as Red List (Low Evidence).",
"entity_name": "SLC6A2",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:56:26.827572+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC6A2 were changed from to Orthostatic intolerance, MIM# 604715",
"entity_name": "SLC6A2",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:56:07.922995+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC6A2 were set to ",
"entity_name": "SLC6A2",
"entity_type": "gene"
},
{
"created": "2022-03-29T18:55:48.985345+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC6A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC6A2",
"entity_type": "gene"
}
]
}