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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=847",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=845",
"results": [
{
"created": "2022-05-10T18:09:16.471866+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GSS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9215686; Phenotypes: Glutathione synthetase deficiency, MIM# 266130, Haemolytic anemia due to glutathione synthetase deficiency 231900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2022-05-10T18:06:27.048713+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GTF3C3 were changed from Global developmental delay; Intellectual disability; Seizures to Neurodevelopmental disorder MONDO:0700092, GTF3C3-related",
"entity_name": "GTF3C3",
"entity_type": "gene"
},
{
"created": "2022-05-10T18:05:51.270496+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GTF3C3: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, GTF3C3-related",
"entity_name": "GTF3C3",
"entity_type": "gene"
},
{
"created": "2022-05-10T18:05:40.651931+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GTF3C3 as ready",
"entity_name": "GTF3C3",
"entity_type": "gene"
},
{
"created": "2022-05-10T18:05:40.638273+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtf3c3 has been classified as Green List (High Evidence).",
"entity_name": "GTF3C3",
"entity_type": "gene"
},
{
"created": "2022-05-10T18:05:26.902858+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GTF3C3 were changed from to Neurodevelopmental disorder MONDO:0700092, GTF3C3-related",
"entity_name": "GTF3C3",
"entity_type": "gene"
},
{
"created": "2022-05-10T18:05:06.172360+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GTF3C3 were set to ",
"entity_name": "GTF3C3",
"entity_type": "gene"
},
{
"created": "2022-05-10T18:04:44.910418+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GTF3C3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GTF3C3",
"entity_type": "gene"
},
{
"created": "2022-05-10T18:04:19.355869+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GTF3C3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940097, 28097321, 30552426; Phenotypes: Neurodevelopmental disorder MONDO:0700092, GTF3C3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GTF3C3",
"entity_type": "gene"
},
{
"created": "2022-05-10T18:01:34.003624+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GUCA1A as ready",
"entity_name": "GUCA1A",
"entity_type": "gene"
},
{
"created": "2022-05-10T18:01:33.986582+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: guca1a has been classified as Green List (High Evidence).",
"entity_name": "GUCA1A",
"entity_type": "gene"
},
{
"created": "2022-05-10T18:01:31.271162+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GUCA1A were changed from Cone dystrophy-3, 602093 to Cone dystrophy-3, MIM# 602093; Cone-rod dystrophy 14, MIM# 602093",
"entity_name": "GUCA1A",
"entity_type": "gene"
},
{
"created": "2022-05-10T18:01:16.671217+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GUCA1A were set to 30679166",
"entity_name": "GUCA1A",
"entity_type": "gene"
},
{
"created": "2022-05-10T18:01:03.249906+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GUCA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GUCA1A",
"entity_type": "gene"
},
{
"created": "2022-05-10T18:00:52.752655+10:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GUCA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 9425234, 15953638, 11146732, 28125083; Phenotypes: Cone dystrophy-3, MIM# 602093, Cone-rod dystrophy 14, MIM# 602093; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GUCA1A",
"entity_type": "gene"
},
{
"created": "2022-05-10T18:00:40.604024+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GUCA1A as ready",
"entity_name": "GUCA1A",
"entity_type": "gene"
},
{
"created": "2022-05-10T18:00:40.592548+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: guca1a has been classified as Green List (High Evidence).",
"entity_name": "GUCA1A",
"entity_type": "gene"
},
{
"created": "2022-05-10T18:00:30.812355+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GUCA1A were changed from to Cone dystrophy-3, MIM# 602093; Cone-rod dystrophy 14, MIM# 602093",
"entity_name": "GUCA1A",
"entity_type": "gene"
},
{
"created": "2022-05-10T18:00:10.650526+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GUCA1A were set to ",
"entity_name": "GUCA1A",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:59:47.977946+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GUCA1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GUCA1A",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:59:18.240590+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GUCA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 9425234, 15953638, 11146732, 28125083; Phenotypes: Cone dystrophy-3, MIM# 602093, Cone-rod dystrophy 14, MIM# 602093; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GUCA1A",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:41:48.017547+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14055",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ASB10 were set to PMID: 26713451; 22156576",
"entity_name": "ASB10",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:41:42.238076+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14055",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ASB10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ASB10",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:38:41.612622+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14054",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ASB10 were set to ",
"entity_name": "ASB10",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:38:38.521990+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14054",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ASB10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ASB10",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:38:35.793527+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14055",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ASB10 were changed from to Glaucoma 1, open angle, F MIM#603383",
"entity_name": "ASB10",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:38:25.816765+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14054",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ASB10 as ready",
"entity_name": "ASB10",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:38:25.805365+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14054",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: asb10 has been classified as Red List (Low Evidence).",
"entity_name": "ASB10",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:38:17.876728+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14054",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: ASB10 as Red List (low evidence)",
"entity_name": "ASB10",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:38:17.811969+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14054",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: asb10 has been classified as Red List (Low Evidence).",
"entity_name": "ASB10",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:37:44.141550+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14053",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ASB10: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 26713451, 22156576; Phenotypes: Glaucoma 1, open angle, F MIM#603383; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ASB10",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:32:20.704497+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14053",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FKRP as ready",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:32:20.693024+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14053",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fkrp has been classified as Green List (High Evidence).",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:31:24.824398+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14053",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FKRP were changed from to Muscular dystrophy-dystroglycanopathy MONDO:0018276",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:29:55.557442+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14052",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FKRP were set to ",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:27:56.759253+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14051",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FKRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:27:41.670075+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14050",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ART4 were changed from {Macular degeneration, age-related, 8} MIM#613778 to {Macular degeneration, age-related, 8} MIM#613778",
"entity_name": "ART4",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:27:35.778854+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14050",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ART4 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ART4",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:26:37.301226+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14049",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: None; Publications: 11592034, 11741828, 14647208, 19299310, 19155270; Phenotypes: Muscular dystrophy-dystroglycanopathy MONDO:0018276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:25:31.416566+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14049",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ART4 were changed from to {Macular degeneration, age-related, 8} MIM#613778",
"entity_name": "ART4",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:25:17.984655+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14048",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ART4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ART4",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:25:15.282858+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14048",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ART4 as ready",
"entity_name": "ART4",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:25:15.271659+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14048",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: art4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ART4",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:25:14.955307+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14048",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ART4 were set to ",
"entity_name": "ART4",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:25:07.621025+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14048",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: ART4 as Amber List (moderate evidence)",
"entity_name": "ART4",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:25:07.608173+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14048",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: art4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ART4",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:24:35.850912+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14047",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ART4: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 33675039, 33206405; Phenotypes: {Macular degeneration, age-related, 8} MIM#613778; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ART4",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:22:47.780365+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14047",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FHL1 as ready",
"entity_name": "FHL1",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:22:47.768969+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14047",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fhl1 has been classified as Green List (High Evidence).",
"entity_name": "FHL1",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:21:27.291177+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14047",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FHL1 were changed from to Reducing body myopathy MONDO:0019948; X-linked Emery-Dreifuss muscular dystrophy MONDO:0010680",
"entity_name": "FHL1",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:19:42.327726+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14046",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ASPA were changed from to Canavan disease MIM#271900; disorder of amino acid metabolism",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:19:35.585988+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14045",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ASPA as ready",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:19:35.576224+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14045",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: aspa has been classified as Green List (High Evidence).",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:19:34.449214+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14045",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ASPA were set to ",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:19:30.782587+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14045",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ASPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:19:05.847013+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14044",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ASPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Canavan disease MIM#271900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:14:10.395978+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14044",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ARMS2 were changed from {Macular degeneration, age-related, 8} MIM#613778 to {Macular degeneration, age-related, 8} MIM#613778",
"entity_name": "ARMS2",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:13:47.259881+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14043",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FHL1 were set to ",
"entity_name": "FHL1",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:11:09.192727+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14042",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FHL1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "FHL1",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:10:47.901332+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14041",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ASH1L were changed from Mental retardation, autosomal dominant 52, MIM#617796 to Mental retardation, autosomal dominant 52, MIM#617796",
"entity_name": "ASH1L",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:10:36.764668+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14041",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ASH1L were set to 23033978; 25961944; 28394464; 28191889; 27824329",
"entity_name": "ASH1L",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:10:35.784295+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14040",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ARMS2 were changed from to {Macular degeneration, age-related, 8} MIM#613778",
"entity_name": "ARMS2",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:10:24.313516+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14040",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: ARMS2 as Red List (low evidence)",
"entity_name": "ARMS2",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:10:24.282315+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14040",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: arms2 has been classified as Red List (Low Evidence).",
"entity_name": "ARMS2",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:10:23.729099+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14039",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ARMS2 as ready",
"entity_name": "ARMS2",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:10:23.715996+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14039",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: arms2 has been classified as Green List (High Evidence).",
"entity_name": "ARMS2",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:08:10.086699+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14039",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19716112, 20186852, 20301609, 18179901, 25274776, 34366191, 18274675, 19181672; Phenotypes: Reducing body myopathy MONDO:0019948, X-linked Emery-Dreifuss muscular dystrophy MONDO:0010680; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes",
"entity_name": "FHL1",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:02:23.371442+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14039",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ASH1L were changed from to Mental retardation, autosomal dominant 52, MIM#617796",
"entity_name": "ASH1L",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:02:10.281505+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14038",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ASH1L were set to ",
"entity_name": "ASH1L",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:02:07.056103+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14038",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ASH1L as ready",
"entity_name": "ASH1L",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:02:07.041438+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14038",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: ash1l has been classified as Green List (High Evidence).",
"entity_name": "ASH1L",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:02:02.321637+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14038",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ASH1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ASH1L",
"entity_type": "gene"
},
{
"created": "2022-05-10T17:01:45.673704+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14037",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ARMS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Macular degeneration, age-related, 8} MIM#613778; Mode of inheritance: Unknown",
"entity_name": "ARMS2",
"entity_type": "gene"
},
{
"created": "2022-05-10T16:42:39.938326+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14037",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ARL2BP were set to PMID: 23849777; 27790702; 29718757",
"entity_name": "ARL2BP",
"entity_type": "gene"
},
{
"created": "2022-05-10T16:42:14.005627+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14036",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ARL2BP were set to ",
"entity_name": "ARL2BP",
"entity_type": "gene"
},
{
"created": "2022-05-10T16:42:08.790317+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14035",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ARL2BP as ready",
"entity_name": "ARL2BP",
"entity_type": "gene"
},
{
"created": "2022-05-10T16:42:08.757074+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14035",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: arl2bp has been classified as Green List (High Evidence).",
"entity_name": "ARL2BP",
"entity_type": "gene"
},
{
"created": "2022-05-10T16:28:12.550992+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14035",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ARL2BP were changed from to Retinitis pigmentosa with or without situs inversus MIM#615434",
"entity_name": "ARL2BP",
"entity_type": "gene"
},
{
"created": "2022-05-10T16:28:00.684996+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14035",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARL2BP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARL2BP",
"entity_type": "gene"
},
{
"created": "2022-05-10T16:24:43.957628+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14034",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ARL2BP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa with or without situs inversus MIM#615434; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARL2BP",
"entity_type": "gene"
},
{
"created": "2022-05-10T15:43:57.715097+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14034",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FH as ready",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2022-05-10T15:43:57.705558+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14034",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fh has been classified as Green List (High Evidence).",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2022-05-10T15:15:32.107278+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14034",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FH were changed from to hereditary leiomyomatosis and renal cell cancer MONDO:0007888; fumaric aciduria MONDO:0011730",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2022-05-10T15:13:47.938262+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14033",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FH were set to ",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2022-05-10T15:12:27.436227+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14032",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FH was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2022-05-10T15:09:10.771868+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14031",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease associations. Loss of function is the mechanism of disease. Monoallelic variants associated with decreased fumarate hydratase enzyme activity cause FH tumour predisposition syndrome (also known as HLRCC; PMID: 11865300, 28300276). FH deficiency (also known as fumarase deficiency or fumaric aciduria) caused by biallelic variants results in severe neonatal and early infantile encephalopathy (PMID: 8200987, 20549362, 31746132). FH encodes for both mitochondrial and cytosolic FH enzyme isoforms, which catalyze hydration of fumarate to malate.; to: Well established gene-disease associations. Loss of function is the mechanism of disease. Monoallelic variants associated with decreased fumarate hydratase enzyme activity cause FH tumour predisposition syndrome (also known as HLRCC; PMID: 11865300, 28300276, 20301430). FH deficiency (also known as fumarase deficiency or fumaric aciduria) caused by biallelic variants results in severe neonatal and early infantile encephalopathy (PMID: 8200987, 20549362, 31746132, 20301679). FH encodes for both mitochondrial and cytosolic FH enzyme isoforms, which catalyze hydration of fumarate to malate.",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2022-05-10T14:59:18.298945+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14031",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: FH: Changed publications: 11865300, 28300276, 20301430, 8200987, 20549362, 31746132, 20301679",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2022-05-10T14:31:32.124167+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14031",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: None; Publications: 11865300, 28300276, 8200987, 20549362, 31746132; Phenotypes: hereditary leiomyomatosis and renal cell cancer MONDO:0007888, fumaric aciduria MONDO:0011730; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2022-05-10T14:20:47.776185+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14031",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ARID1B were changed from to Coffin-Siris syndrome 1 MIM#135900",
"entity_name": "ARID1B",
"entity_type": "gene"
},
{
"created": "2022-05-10T14:20:33.262852+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14030",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ARID1B as ready",
"entity_name": "ARID1B",
"entity_type": "gene"
},
{
"created": "2022-05-10T14:20:33.249837+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14030",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: arid1b has been classified as Green List (High Evidence).",
"entity_name": "ARID1B",
"entity_type": "gene"
},
{
"created": "2022-05-10T14:20:30.888930+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14030",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARID1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ARID1B",
"entity_type": "gene"
},
{
"created": "2022-05-10T14:20:09.374022+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14029",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ARID1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coffin-Siris syndrome 1 MIM#135900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ARID1B",
"entity_type": "gene"
},
{
"created": "2022-05-10T14:10:08.945724+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14029",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FGG as ready",
"entity_name": "FGG",
"entity_type": "gene"
},
{
"created": "2022-05-10T14:10:08.931197+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14029",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fgg has been classified as Green List (High Evidence).",
"entity_name": "FGG",
"entity_type": "gene"
},
{
"created": "2022-05-10T14:08:29.910992+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14029",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FGG were changed from to congenital fibrinogen deficiency MONDO:0018060",
"entity_name": "FGG",
"entity_type": "gene"
},
{
"created": "2022-05-10T14:05:57.290107+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14028",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FGG were set to ",
"entity_name": "FGG",
"entity_type": "gene"
},
{
"created": "2022-05-10T14:04:16.673795+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14027",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ARHGDIA were changed from Nephrotic syndrome, type 8 MIM#615244 to Nephrotic syndrome, type 8 MIM#615244",
"entity_name": "ARHGDIA",
"entity_type": "gene"
},
{
"created": "2022-05-10T14:04:08.297879+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14026",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ARHGDIA were set to PMID: 23867502; 35060086",
"entity_name": "ARHGDIA",
"entity_type": "gene"
},
{
"created": "2022-05-10T14:03:56.522536+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14026",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARHGDIA was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARHGDIA",
"entity_type": "gene"
}
]
}