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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=546",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=544",
"results": [
{
"created": "2023-09-22T02:49:44.451428+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: B3GNT2: Changed phenotypes: Muscular dystrophy-dystroglycanopathy, MONDO:0018276, B3GNT2-related",
"entity_name": "B3GNT2",
"entity_type": "gene"
},
{
"created": "2023-09-22T02:47:27.420475+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AXL were changed from Kallman syndrome; normosmic idiopathic hypogonadotropic hypogonadism to Kallman syndrome, MONDO:0018800, AXL-related; normosmic idiopathic hypogonadotropic hypogonadism",
"entity_name": "AXL",
"entity_type": "gene"
},
{
"created": "2023-09-22T02:45:22.696528+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATXN2L were changed from macrocephaly; intellectual disability to Neurodevelopmental disorder, MONDO:0700092, ATXN2L-related",
"entity_name": "ATXN2L",
"entity_type": "gene"
},
{
"created": "2023-09-22T02:43:26.719101+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATRIP were changed from Seckel Syndrome to Seckel Syndrome, MONDO:0019342, ATRIP-related",
"entity_name": "ATRIP",
"entity_type": "gene"
},
{
"created": "2023-09-22T02:39:57.737456+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP2B4 were changed from Hereditary spastic paraplegia to Hereditary spastic paraplegia, MONDO:0019064, ATP2B4-related",
"entity_name": "ATP2B4",
"entity_type": "gene"
},
{
"created": "2023-09-22T02:37:32.234220+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASTN2 as ready",
"entity_name": "ASTN2",
"entity_type": "gene"
},
{
"created": "2023-09-22T02:37:32.212689+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: astn2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ASTN2",
"entity_type": "gene"
},
{
"created": "2023-09-22T02:35:24.897963+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ASTN2 as Amber List (moderate evidence)",
"entity_name": "ASTN2",
"entity_type": "gene"
},
{
"created": "2023-09-22T02:35:24.870247+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: astn2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ASTN2",
"entity_type": "gene"
},
{
"created": "2023-09-22T02:35:19.390946+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ASTN2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ASTN2",
"entity_type": "gene"
},
{
"created": "2023-09-22T02:34:51.451746+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASTN2 was added\ngene: ASTN2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ASTN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ASTN2 were set to 28940097; 34412080; 27138430\nPhenotypes for gene: ASTN2 were set to Neurodevelopmental disorder, MONDO:0700092, ASTN2-related\nReview for gene: ASTN2 was set to AMBER\nAdded comment: Candidate gene reported by Anazi et al; rare CNVs also reported; other circumstantial evidence. \nSources: Literature",
"entity_name": "ASTN2",
"entity_type": "gene"
},
{
"created": "2023-09-22T02:33:25.671708+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ASTN2: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ASTN2",
"entity_type": "gene"
},
{
"created": "2023-09-22T02:32:20.328083+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ASTN2: Changed publications: 28940097, 34412080, 27138430",
"entity_name": "ASTN2",
"entity_type": "gene"
},
{
"created": "2023-09-22T02:30:51.708331+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ASTN2: Added comment: Rare CNVs also reported.; Changed publications: 28940097, 34412080",
"entity_name": "ASTN2",
"entity_type": "gene"
},
{
"created": "2023-09-22T02:29:14.353712+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ASTN2: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, ASTN2-related",
"entity_name": "ASTN2",
"entity_type": "gene"
},
{
"created": "2023-09-22T02:27:53.432256+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASTN1 were changed from Polymicrogyria; hypoplastic corpus callosum to Cerebral malformation, MONDO:0016054, ASTN1-related",
"entity_name": "ASTN1",
"entity_type": "gene"
},
{
"created": "2023-09-22T02:27:29.028115+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ASTN1: Changed phenotypes: Cerebral malformation, MONDO:0016054, ASTN1-related",
"entity_name": "ASTN1",
"entity_type": "gene"
},
{
"created": "2023-09-21T13:10:08.064325+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5479",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: TTC37: Rating: GREEN; Mode of pathogenicity: None; Publications: 29334452; Phenotypes: trichohepatoenteric syndrome 1 MONDO:0024541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2023-09-21T09:21:45.456499+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GYG1 as ready",
"entity_name": "GYG1",
"entity_type": "gene"
},
{
"created": "2023-09-21T09:21:45.433144+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gyg1 has been classified as Green List (High Evidence).",
"entity_name": "GYG1",
"entity_type": "gene"
},
{
"created": "2023-09-21T09:15:16.372997+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GYG1 as Green List (high evidence)",
"entity_name": "GYG1",
"entity_type": "gene"
},
{
"created": "2023-09-21T09:15:16.357137+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gyg1 has been classified as Green List (High Evidence).",
"entity_name": "GYG1",
"entity_type": "gene"
},
{
"created": "2023-09-21T09:14:00.419043+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GYG1 was added\ngene: GYG1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature\nMode of inheritance for gene: GYG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GYG1 were set to 29422440; 32477874; 32528171\nPhenotypes for gene: GYG1 were set to Polyglucosan body myopathy 2, MIM# 616199; Glycogen storage disease XV , MIM# 613507\nReview for gene: GYG1 was set to GREEN\ngene: GYG1 was marked as current diagnostic\nAdded comment: Limb-girdle muscle weakness can be a feature of this myopathy. \nSources: Literature",
"entity_name": "GYG1",
"entity_type": "gene"
},
{
"created": "2023-09-21T05:39:22.526871+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARIH1 were changed from Thoracic aortic aneurysm to Thoracic aortic aneurysm, MONDO:0005396, ARIH1-related",
"entity_name": "ARIH1",
"entity_type": "gene"
},
{
"created": "2023-09-21T05:38:31.614972+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARIH1 were changed from Thoracic aortic aneurysm to Thoracic aortic aneurysm, MONDO:0005396, ARIH1-related",
"entity_name": "ARIH1",
"entity_type": "gene"
},
{
"created": "2023-09-21T05:36:04.510223+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARHGAP29 were changed from Cleft palate; cleft lip with or without cleft palate to Clefting disorder, MONDO:0000358, ARHGAP29-related",
"entity_name": "ARHGAP29",
"entity_type": "gene"
},
{
"created": "2023-09-21T05:35:41.608740+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARHGAP29 were changed from cleft lip with or without cleft palate; Cleft palate to Clefting disorder, MONDO:0000358, ARHGAP29-related",
"entity_name": "ARHGAP29",
"entity_type": "gene"
},
{
"created": "2023-09-21T05:35:10.289736+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARHGAP29 were changed from Cleft palate; cleft lip with or without cleft palate to Clefting disorder, MONDO:0000358, ARHGAP29-related",
"entity_name": "ARHGAP29",
"entity_type": "gene"
},
{
"created": "2023-09-21T05:34:49.557298+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ARHGAP29: Changed phenotypes: Clefting disorder, MONDO:0000358, ARHGAP29-related",
"entity_name": "ARHGAP29",
"entity_type": "gene"
},
{
"created": "2023-09-21T05:32:43.041385+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARHGAP24 were changed from FSGS to FSGS, MONDO:0005363, ARHGAP24-related",
"entity_name": "ARHGAP24",
"entity_type": "gene"
},
{
"created": "2023-09-21T05:32:09.888140+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ARHGAP24: Changed phenotypes: FSGS, MONDO:0005363, ARHGAP24-related",
"entity_name": "ARHGAP24",
"entity_type": "gene"
},
{
"created": "2023-09-21T05:31:49.834866+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARHGAP24 were changed from FSGS to FSGS, MONDO:0005363, ARHGAP24-related",
"entity_name": "ARHGAP24",
"entity_type": "gene"
},
{
"created": "2023-09-21T05:31:28.818001+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ARHGAP24: Changed phenotypes: FSGS, MONDO:0005363, ARHGAP24-related",
"entity_name": "ARHGAP24",
"entity_type": "gene"
},
{
"created": "2023-09-21T05:29:22.095315+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARFGEF3 were changed from Dystonia to Dystonia, MONDO:0044807, ARFGEF3-related",
"entity_name": "ARFGEF3",
"entity_type": "gene"
},
{
"created": "2023-09-21T05:27:26.677739+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARF3 were changed from Global developmental delay; Intellectual disability; Seizures; Morphological abnormality of the central nervous system to Neurodevelopmental disorder, MONDO:0700092, ARF3-related",
"entity_name": "ARF3",
"entity_type": "gene"
},
{
"created": "2023-09-21T05:24:47.936821+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARAP3 were changed from Lymphoedema to Lymphoedema, MONDO:0019297, ARAP3-related",
"entity_name": "ARAP3",
"entity_type": "gene"
},
{
"created": "2023-09-21T05:24:19.885782+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ARAP3: Changed phenotypes: Lymphoedema, MONDO:0019297, ARAP3-related",
"entity_name": "ARAP3",
"entity_type": "gene"
},
{
"created": "2023-09-20T11:22:11.894843+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5479",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MCCC1 as ready",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2023-09-20T11:22:11.882255+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5479",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mccc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2023-09-20T10:56:28.589371+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5479",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: MCCC1 were changed from to 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200; Organic acidurias",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2023-09-20T10:56:06.524564+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1189",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: MCCC1 were set to 27604308; 11170888; 31730530",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2023-09-20T10:44:02.787846+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5478",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: MCCC1 were set to ",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2023-09-20T10:43:16.209906+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "1.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: MCCC1 were set to 29152456; 31730530; 27604308; 11170888",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2023-09-20T10:42:55.727373+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: MCCC1 were set to 27604308; 11170888",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2023-09-20T10:42:35.137852+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: MCCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36822454, 31730530; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200, Organic acidurias; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2023-09-20T10:42:17.604636+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5477",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: MCCC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2023-09-20T10:41:41.569563+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "1.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: MCCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36822454, 31730530; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200, Organic acidurias; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2023-09-20T10:40:58.922681+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5476",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MCCC1 as Amber List (moderate evidence)",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2023-09-20T10:40:58.910229+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5476",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mccc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2023-09-20T10:40:26.463962+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5475",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: MCCC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 36822454, 31730530; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200, Organic acidurias; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2023-09-20T10:38:32.526081+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1188",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: MCCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36822454, 31730530; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200, Organic acidurias; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2023-09-20T10:32:09.679933+10:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "1.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2023-09-20T10:31:54.630326+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2023-09-20T10:31:03.691100+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1188",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2023-09-19T18:33:07.912804+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP1B1 were changed from Intellectual disability; enteropathy; deafness; ichthyosis; keratoderma to Keratitis-ichthyosis-deafness syndrome, autosomal recessive, MIM# 242150",
"entity_name": "AP1B1",
"entity_type": "gene"
},
{
"created": "2023-09-19T18:32:47.484484+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AP1B1: Changed phenotypes: Keratitis-ichthyosis-deafness syndrome, autosomal recessive, MIM# 242150",
"entity_name": "AP1B1",
"entity_type": "gene"
},
{
"created": "2023-09-19T17:47:09.085635+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANKZF1 were changed from Infantile-onset inflammatory bowel disease to Infantile-onset inflammatory bowel disease, MONDO:0005265, ANKZF1-related",
"entity_name": "ANKZF1",
"entity_type": "gene"
},
{
"created": "2023-09-19T17:46:43.858650+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANKZF1 were changed from Infantile-onset inflammatory bowel disease to Infantile-onset inflammatory bowel disease, MONDO:0005265, ANKZF1-related",
"entity_name": "ANKZF1",
"entity_type": "gene"
},
{
"created": "2023-09-19T17:44:43.294221+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANKRD31 were changed from Premature ovarian failure to Premature ovarian failure, MONDO:0019852, ANKDR31-related",
"entity_name": "ANKRD31",
"entity_type": "gene"
},
{
"created": "2023-09-19T17:44:01.667761+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANKRD31 were changed from Premature ovarian failure to Premature ovarian failure, MONDO:0019852, ANKRD31-related",
"entity_name": "ANKRD31",
"entity_type": "gene"
},
{
"created": "2023-09-19T16:40:57.200096+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AMBRA1 were changed from Neural tube defects to Neural tube defects, susceptibility to, MONDO:0020705, AMBRA1-related",
"entity_name": "AMBRA1",
"entity_type": "gene"
},
{
"created": "2023-09-19T16:36:55.605144+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALPI were changed from Inflammatory bowel disease to Inflammatory bowel disease, MONDO:0005265, ALPI-related",
"entity_name": "ALPI",
"entity_type": "gene"
},
{
"created": "2023-09-19T16:36:36.057692+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ALPI: Changed phenotypes: Inflammatory bowel disease, MONDO:0005265, ALPI-related",
"entity_name": "ALPI",
"entity_type": "gene"
},
{
"created": "2023-09-19T16:36:19.984019+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALPI were changed from Inflammatory bowel disease to Inflammatory bowel disease, MONDO:0005265, ALPI-related",
"entity_name": "ALPI",
"entity_type": "gene"
},
{
"created": "2023-09-19T16:30:57.668989+10:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ALPI: Changed phenotypes: Inflammatory bowel disease, MONDO:0005265, ALPI-related",
"entity_name": "ALPI",
"entity_type": "gene"
},
{
"created": "2023-09-19T16:03:38.579926+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG10 were changed from Progressive myoclonus epilepsy; CDG to Congenital disorder of glycosylation, MONDO:0015286, ALG10-related",
"entity_name": "ALG10",
"entity_type": "gene"
},
{
"created": "2023-09-19T16:02:59.233845+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ALG10: Changed phenotypes: Congenital disorder of glycosylation, MONDO:0015286, ALG10-related",
"entity_name": "ALG10",
"entity_type": "gene"
},
{
"created": "2023-09-19T15:43:10.598671+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG10 were changed from Progressive myoclonus epilepsy; CDG to Congenital disorder of glycosylation, MONDO:0015286, ALG10-related",
"entity_name": "ALG10",
"entity_type": "gene"
},
{
"created": "2023-09-19T15:42:09.083700+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG10 were changed from Progressive myoclonus epilepsy; CDG to Congenital disorder of glycosylation, MONDO:0015286, ALG10-related",
"entity_name": "ALG10",
"entity_type": "gene"
},
{
"created": "2023-09-19T15:41:47.448084+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ALG10: Changed phenotypes: Congenital disorder of glycosylation, MONDO:0015286, ALG10-related",
"entity_name": "ALG10",
"entity_type": "gene"
},
{
"created": "2023-09-19T15:38:07.412568+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AKR1E2 were changed from congenital cataracts to Cataract, MONDO:0005129, AKR1E2-related",
"entity_name": "AKR1E2",
"entity_type": "gene"
},
{
"created": "2023-09-19T15:37:46.626272+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AKR1E2: Changed phenotypes: Cataract, MONDO:0005129, AKR1E2-related",
"entity_name": "AKR1E2",
"entity_type": "gene"
},
{
"created": "2023-09-19T15:37:30.070781+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AKR1E2 were changed from congenital cararact to Cataract, MONDO:0005129, AKR1E2-related",
"entity_name": "AKR1E2",
"entity_type": "gene"
},
{
"created": "2023-09-19T15:36:53.017811+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AKR1E2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract, MONDO:0005129, AKR1E2-related; Mode of inheritance: None",
"entity_name": "AKR1E2",
"entity_type": "gene"
},
{
"created": "2023-09-19T15:35:05.688324+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AKNA were changed from Primary ciliary dyskinesia to Primary ciliary dyskinesia, MONDO:0016575, AKNA-related",
"entity_name": "AKNA",
"entity_type": "gene"
},
{
"created": "2023-09-19T15:34:43.480963+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AKNA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ciliary dyskinesia, MONDO:0016575, AKNA-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AKNA",
"entity_type": "gene"
},
{
"created": "2023-09-19T15:34:03.907748+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AKNA were changed from Primary ciliary dyskinesia to Primary ciliary dyskinesia, MONDO:0016575, AKNA-related",
"entity_name": "AKNA",
"entity_type": "gene"
},
{
"created": "2023-09-19T15:33:34.726944+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AKNA: Changed phenotypes: Primary ciliary dyskinesia, MONDO:0016575, AKNA-related",
"entity_name": "AKNA",
"entity_type": "gene"
},
{
"created": "2023-09-19T15:32:26.086589+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AKAP6 were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, AKAP6-related",
"entity_name": "AKAP6",
"entity_type": "gene"
},
{
"created": "2023-09-19T15:31:51.945127+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AKAP6: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, AKAP6-related",
"entity_name": "AKAP6",
"entity_type": "gene"
},
{
"created": "2023-09-19T15:31:30.718609+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AKAP6 were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, AKAP6-related",
"entity_name": "AKAP6",
"entity_type": "gene"
},
{
"created": "2023-09-19T15:31:07.661593+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AKAP6: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, AKAP6-related",
"entity_name": "AKAP6",
"entity_type": "gene"
},
{
"created": "2023-09-18T18:44:04.796577+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGO3 were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, AGO3-related",
"entity_name": "AGO3",
"entity_type": "gene"
},
{
"created": "2023-09-18T18:42:56.334240+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGMO were changed from microcephaly; intellectual disability; epilepsy to Neurodevelopmental disorder, MONDO:0700092, AGMO-related",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2023-09-18T18:41:54.975926+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGMO were changed from microcephaly; intellectual disability; epilepsy to Neurodevelopmental disorder, MONDO:0700092, AGMO-related",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2023-09-18T18:39:59.117076+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGMO were changed from microcephaly; intellectual disability; epilepsy to Neurodevelopmental disorder, MONDO:0700092, AGMO-related",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2023-09-18T18:39:11.113887+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGMO were changed from microcephaly; intellectual disability; epilepsy to Neurodevelopmental disorder, MONDO:0700092, AGMO-related",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2023-09-18T18:38:47.854061+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AGMO: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, AGMO-related; Mode of inheritance: None",
"entity_name": "AGMO",
"entity_type": "gene"
},
{
"created": "2023-09-18T18:25:09.250578+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTL6A were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, ACTL6A-related",
"entity_name": "ACTL6A",
"entity_type": "gene"
},
{
"created": "2023-09-18T18:24:36.338025+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ACTL6A: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, ACTL6A-related",
"entity_name": "ACTL6A",
"entity_type": "gene"
},
{
"created": "2023-09-18T18:24:16.728937+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTL6A were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, ACTL6A-related",
"entity_name": "ACTL6A",
"entity_type": "gene"
},
{
"created": "2023-09-18T18:23:52.869131+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ACTL6A: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, ACTL6A-related",
"entity_name": "ACTL6A",
"entity_type": "gene"
},
{
"created": "2023-09-18T18:22:03.709343+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACER3 as Green List (high evidence)",
"entity_name": "ACER3",
"entity_type": "gene"
},
{
"created": "2023-09-18T18:22:03.698354+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acer3 has been classified as Green List (High Evidence).",
"entity_name": "ACER3",
"entity_type": "gene"
},
{
"created": "2023-09-18T18:19:44.888789+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACADL were changed from Pulmonary surfactant dysfunction to Hereditary pulmonary alveoral proteinosis, MONDO:0012580, ACADL-related",
"entity_name": "ACADL",
"entity_type": "gene"
},
{
"created": "2023-09-18T18:19:25.305295+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ACADL: Changed phenotypes: Hereditary pulmonary alveoral proteinosis, MONDO:0012580, ACADL-related",
"entity_name": "ACADL",
"entity_type": "gene"
},
{
"created": "2023-09-18T18:11:42.497666+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SEMA3E were set to 15235037; 31691538; 31464029",
"entity_name": "SEMA3E",
"entity_type": "gene"
},
{
"created": "2023-09-18T18:09:54.809451+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABAT as ready",
"entity_name": "ABAT",
"entity_type": "gene"
},
{
"created": "2023-09-18T18:09:54.796907+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abat has been classified as Amber List (Moderate Evidence).",
"entity_name": "ABAT",
"entity_type": "gene"
},
{
"created": "2023-09-18T18:09:51.665951+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABAT were changed from intellectual disability; autism; DEE; epilepsy; paroxysmal dyskinesia to GABA-transaminase deficiency, MIM# 613163; intellectual disability; autism; DEE; epilepsy; paroxysmal dyskinesia",
"entity_name": "ABAT",
"entity_type": "gene"
}
]
}