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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1337",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1335",
"results": [
{
"created": "2021-04-27T18:53:12.215456+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PCYT1A as Amber List (moderate evidence)",
"entity_name": "PCYT1A",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:53:12.202282+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcyt1a has been classified as Amber List (Moderate Evidence).",
"entity_name": "PCYT1A",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:52:42.613058+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PCYT1A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital lipodystrophy, fatty liver disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCYT1A",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:49:27.304353+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LMNA as ready",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:49:27.293973+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmna has been classified as Green List (High Evidence).",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:49:24.639651+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMNA were changed from to Lipodystrophy, familial partial, type 2, MIM# 151660",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:48:47.817926+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LMNA were set to ",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:48:24.798360+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LMNA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:47:55.549020+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 10587585, 10655060; Phenotypes: Lipodystrophy, familial partial, type 2, MIM# 151660; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:26:26.060418+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3718",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNJ6 were set to 25620207",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:25:51.470903+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3717",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Keppen-Lubinsky syndrome characterised by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth.\r\n\r\nThree unrelated individuals reported with de novo variants in this gene (one recurred in 2), mouse model.; to: Keppen-Lubinsky syndrome characterised by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth.\r\n\r\nFour unrelated individuals reported with de novo variants in this gene (one recurred in 2), mouse model. One of the individuals did not have lipodystrophy but had a prominent hyperkinetic movement disorder.",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:25:40.415747+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3717",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KCNJ6: Changed publications: 25620207, 29852244",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:25:26.986051+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNJ6 were set to 25620207",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:25:00.514980+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Keppen-Lubinsky syndrome characterised by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth.\r\n\r\nThree unrelated individuals reported with de novo variants in this gene (one recurred in 2), mouse model. \nSources: Expert Review; to: Keppen-Lubinsky syndrome characterised by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth.\r\n\r\nFour unrelated individuals reported with de novo variants in this gene (one recurred in 2), mouse model. One of the individuals did not have lipodystrophy but had a prominent hyperkinetic movement disorder.\r\nSources: Expert Review",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:24:51.831022+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KCNJ6: Changed publications: 25620207, 29852244",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:24:23.047456+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNJ6 were set to 25620207",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:23:56.494155+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Keppen-Lubinsky syndrome characterised by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth.\r\n\r\nThree unrelated individuals reported with de novo variants in this gene (one recurred in 2), mouse model.; to: Keppen-Lubinsky syndrome characterised by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth.\r\n\r\nFour unrelated individuals reported with de novo variants in this gene (one recurred in 2), mouse model. One of the individuals did not have lipodystrophy but had a prominent hyperkinetic movement disorder.",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:23:39.923952+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KCNJ6: Changed publications: 25620207, 29852244",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:23:37.403307+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNJ6 were set to 25620207",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:23:16.872399+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Keppen-Lubinsky syndrome characterised by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth.\r\n\r\nThree unrelated individuals reported with de novo variants in this gene (one recurred in 2), mouse model.; to: Keppen-Lubinsky syndrome characterised by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth.\r\n\r\nFour unrelated individuals reported with de novo variants in this gene (one recurred in 2), mouse model. One of the individuals did not have lipodystrophy but had a prominent hyperkinetic movement disorder.",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:22:43.855156+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KCNJ6: Changed publications: 25620207, 29852244",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:21:57.714858+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ6 as ready",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:21:57.705341+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj6 has been classified as Green List (High Evidence).",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:21:52.522089+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNJ6 as Green List (high evidence)",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:21:52.512284+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj6 has been classified as Green List (High Evidence).",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:21:28.103514+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNJ6 was added\ngene: KCNJ6 was added to Microcephaly. Sources: Expert Review\nMode of inheritance for gene: KCNJ6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNJ6 were set to 25620207\nPhenotypes for gene: KCNJ6 were set to Keppen-Lubinsky syndrome, MIM# 614098; MONDO:0013572\nReview for gene: KCNJ6 was set to GREEN\nAdded comment: Keppen-Lubinsky syndrome characterised by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth.\r\n\r\nThree unrelated individuals reported with de novo variants in this gene (one recurred in 2), mouse model. \nSources: Expert Review",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:20:10.416052+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ6 as ready",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:20:10.397526+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj6 has been classified as Green List (High Evidence).",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:20:03.599272+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ6 were changed from to Keppen-Lubinsky syndrome, MIM# 614098; MONDO:0013572",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:19:45.576832+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNJ6 were set to ",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:19:27.668386+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNJ6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:19:08.097992+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNJ6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25620207; Phenotypes: Keppen-Lubinsky syndrome, MIM# 614098, MONDO:0013572; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:18:30.698213+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3717",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ6 as ready",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:18:30.688384+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3717",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj6 has been classified as Green List (High Evidence).",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:18:27.373896+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3717",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ6 were changed from to Keppen-Lubinsky syndrome, MIM# 614098; MONDO:0013572",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:17:57.816848+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3716",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNJ6 were set to ",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:17:27.255769+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3715",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNJ6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:17:00.678532+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3714",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNJ6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25620207; Phenotypes: Keppen-Lubinsky syndrome, MIM# 614098, MONDO:0013572; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:16:40.301835+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ6 as ready",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:16:40.288438+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj6 has been classified as Green List (High Evidence).",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:16:21.082942+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ6 were changed from to Keppen-Lubinsky syndrome, MIM# 614098; MONDO:0013572",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:15:48.890896+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNJ6 were set to ",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:15:27.402530+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNJ6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:15:01.179707+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KCNJ6: Changed phenotypes: Keppen-Lubinsky syndrome, MIM# 614098, MONDO:0013572",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:14:27.474222+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNJ6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25620207; Phenotypes: Keppen-Lubinsky syndrome, MIM# 614098; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:11:18.289614+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBN1 as ready",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:11:18.278826+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbn1 has been classified as Green List (High Evidence).",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:11:08.448637+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBN1 were changed from to Marfan lipodystrophy syndrome, MIM# 616914",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:10:53.076763+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FBN1 were set to 20979188; 21594992; 21594993; 24613577; 26860060; 29666143",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:10:38.809205+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FBN1 were set to ",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:10:08.507905+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FBN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:09:38.435283+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20979188, 21594992, 21594993, 24613577, 26860060, 29666143; Phenotypes: Marfan lipodystrophy syndrome, MIM# 616914; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:05:47.839933+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC8 as ready",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:05:47.827343+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc8 has been classified as Green List (High Evidence).",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:05:44.934194+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC8 were changed from to Cockayne syndrome, type B, MIM# 133540",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:05:16.411450+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC8 were set to ",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:04:54.818627+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:04:24.778975+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 28476236; Phenotypes: Cockayne syndrome, type B, MIM# 133540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:03:46.976800+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC6 as ready",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:03:46.963846+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc6 has been classified as Green List (High Evidence).",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:03:43.848741+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC6 were changed from to Cockayne syndrome, type B, MIM# 133540",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:03:17.417033+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC6 were set to ",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:01:43.555400+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2021-04-27T18:01:13.451534+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 28476236; Phenotypes: Cockayne syndrome, type B, MIM# 133540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2021-04-27T17:59:58.450764+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-04-27T17:57:13.535770+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF4G1 as ready",
"entity_name": "EIF4G1",
"entity_type": "gene"
},
{
"created": "2021-04-27T17:57:13.525073+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif4g1 has been classified as Red List (Low Evidence).",
"entity_name": "EIF4G1",
"entity_type": "gene"
},
{
"created": "2021-04-27T17:57:07.105430+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF4G1 were changed from to {Parkinson disease 18} 614251",
"entity_name": "EIF4G1",
"entity_type": "gene"
},
{
"created": "2021-04-27T17:56:48.601082+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: EIF4G1.",
"entity_name": "EIF4G1",
"entity_type": "gene"
},
{
"created": "2021-04-27T17:56:45.503480+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EIF4G1 were set to ",
"entity_name": "EIF4G1",
"entity_type": "gene"
},
{
"created": "2021-04-27T17:56:26.221886+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EIF4G1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EIF4G1",
"entity_type": "gene"
},
{
"created": "2021-04-27T17:56:04.997929+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EIF4G1 as Red List (low evidence)",
"entity_name": "EIF4G1",
"entity_type": "gene"
},
{
"created": "2021-04-27T17:56:04.986881+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif4g1 has been classified as Red List (Low Evidence).",
"entity_name": "EIF4G1",
"entity_type": "gene"
},
{
"created": "2021-04-27T17:55:46.900701+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EIF4G1: Rating: RED; Mode of pathogenicity: None; Publications: 21907011, 23408866, 25368108; Phenotypes: {Parkinson disease 18} 614251; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EIF4G1",
"entity_type": "gene"
},
{
"created": "2021-04-27T17:24:00.437480+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7367",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag for review tag was added to gene: EIF4G1.",
"entity_name": "EIF4G1",
"entity_type": "gene"
},
{
"created": "2021-04-27T17:10:24.911037+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CIDEC as ready",
"entity_name": "CIDEC",
"entity_type": "gene"
},
{
"created": "2021-04-27T17:10:24.900421+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cidec has been classified as Red List (Low Evidence).",
"entity_name": "CIDEC",
"entity_type": "gene"
},
{
"created": "2021-04-27T17:10:18.328517+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CIDEC were changed from to Lipodystrophy, familial partial, type 5, MIM# 615238",
"entity_name": "CIDEC",
"entity_type": "gene"
},
{
"created": "2021-04-27T17:10:01.067755+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CIDEC were set to ",
"entity_name": "CIDEC",
"entity_type": "gene"
},
{
"created": "2021-04-27T17:09:37.682818+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CIDEC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CIDEC",
"entity_type": "gene"
},
{
"created": "2021-04-27T17:09:20.380290+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CIDEC as Red List (low evidence)",
"entity_name": "CIDEC",
"entity_type": "gene"
},
{
"created": "2021-04-27T17:09:20.369824+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cidec has been classified as Red List (Low Evidence).",
"entity_name": "CIDEC",
"entity_type": "gene"
},
{
"created": "2021-04-27T17:08:53.255502+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CIDEC: Rating: RED; Mode of pathogenicity: None; Publications: 20049731; Phenotypes: Lipodystrophy, familial partial, type 5, MIM# 615238; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CIDEC",
"entity_type": "gene"
},
{
"created": "2021-04-27T17:07:35.184373+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CIDEC as ready",
"entity_name": "CIDEC",
"entity_type": "gene"
},
{
"created": "2021-04-27T17:07:35.174212+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cidec has been classified as Red List (Low Evidence).",
"entity_name": "CIDEC",
"entity_type": "gene"
},
{
"created": "2021-04-27T17:07:31.702563+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CIDEC were changed from to Lipodystrophy, familial partial, type 5, MIM# 615238",
"entity_name": "CIDEC",
"entity_type": "gene"
},
{
"created": "2021-04-27T17:07:03.315323+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CIDEC were set to ",
"entity_name": "CIDEC",
"entity_type": "gene"
},
{
"created": "2021-04-27T17:06:35.837117+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CIDEC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CIDEC",
"entity_type": "gene"
},
{
"created": "2021-04-27T17:06:12.628669+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CIDEC as Red List (low evidence)",
"entity_name": "CIDEC",
"entity_type": "gene"
},
{
"created": "2021-04-27T17:06:12.617285+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cidec has been classified as Red List (Low Evidence).",
"entity_name": "CIDEC",
"entity_type": "gene"
},
{
"created": "2021-04-27T17:05:42.841968+10:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CIDEC: Rating: RED; Mode of pathogenicity: None; Publications: 20049731; Phenotypes: Lipodystrophy, familial partial, type 5, MIM# 615238; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CIDEC",
"entity_type": "gene"
},
{
"created": "2021-04-27T16:51:50.726549+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.604",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: MORC2 was added\ngene: MORC2 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MORC2 were set to PMID: 32693025\nPhenotypes for gene: MORC2 were set to Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090; Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688.\nReview for gene: MORC2 was set to GREEN\nAdded comment: Five of eighteen individuals for whom brain imaging was available had lesions reminiscent of those observed in Leigh syndrome. \nSources: Literature",
"entity_name": "MORC2",
"entity_type": "gene"
},
{
"created": "2021-04-27T15:22:13.767860+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7363",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2021-04-27T15:21:53.996372+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7363",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: SAG: Rating: GREEN; Mode of pathogenicity: None; Publications: 22419846, 9452120; Phenotypes: Oguchi disease-1 (MIM#258100), AR, Retinitis pigmentosa 47 (MIM#613758); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SAG",
"entity_type": "gene"
},
{
"created": "2021-04-27T15:19:00.795779+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIG3 as ready",
"entity_name": "LIG3",
"entity_type": "gene"
},
{
"created": "2021-04-27T15:19:00.784693+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lig3 has been classified as Green List (High Evidence).",
"entity_name": "LIG3",
"entity_type": "gene"
},
{
"created": "2021-04-27T15:18:57.416187+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LIG3 as Green List (high evidence)",
"entity_name": "LIG3",
"entity_type": "gene"
},
{
"created": "2021-04-27T15:18:57.406310+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lig3 has been classified as Green List (High Evidence).",
"entity_name": "LIG3",
"entity_type": "gene"
},
{
"created": "2021-04-27T15:18:45.515128+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIG3 was added\ngene: LIG3 was added to Leukodystrophy - paediatric. Sources: Literature\nMode of inheritance for gene: LIG3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LIG3 were set to 33855352\nPhenotypes for gene: LIG3 were set to gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy\nReview for gene: LIG3 was set to GREEN\nAdded comment: Seven individuals from three unrelated families and functional data, variable ages of onset from early childhood to late adolescence. \nSources: Literature",
"entity_name": "LIG3",
"entity_type": "gene"
},
{
"created": "2021-04-27T15:17:49.360996+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Three unrelated families and functional data. \nSources: Literature; to: Seven individuals from three unrelated families and functional data, variable ages of onset from early childhood to late adolescence.\r\nSources: Literature",
"entity_name": "LIG3",
"entity_type": "gene"
}
]
}