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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=329",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=327",
"results": [
{
"created": "2024-12-08T20:47:25.703945+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.80",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CCT3 as ready",
"entity_name": "CCT3",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:47:25.691398+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.80",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cct3 has been classified as Green List (High Evidence).",
"entity_name": "CCT3",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:47:06.583701+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.80",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: CCT3 as Green List (high evidence)",
"entity_name": "CCT3",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:47:06.566590+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.80",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cct3 has been classified as Green List (High Evidence).",
"entity_name": "CCT3",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:44:20.383360+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.15",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: CCT3 as Green List (high evidence)",
"entity_name": "CCT3",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:44:20.371043+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.15",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cct3 has been classified as Green List (High Evidence).",
"entity_name": "CCT3",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:44:14.651353+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.79",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CCT3 was added\ngene: CCT3 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: CCT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CCT3 were set to 39480921\nPhenotypes for gene: CCT3 were set to neurodevelopmental disorder MONDO:0700092, CCT3-related\nPenetrance for gene: CCT3 were set to Complete\nReview for gene: CCT3 was set to GREEN\ngene: CCT3 was marked as current diagnostic\nAdded comment: 4x de novo - 3x PTCs and 1x missense\r\n\r\noverlapping phenotypes:\r\n4/4 ID/DD\r\n3/4 visual impairment\r\n2/4 seizures\r\n4/4 Hypomyelination of white matter \nSources: Literature",
"entity_name": "CCT3",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:43:42.600664+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.15",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CCT3 as ready",
"entity_name": "CCT3",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:43:42.582958+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.15",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cct3 has been classified as Green List (High Evidence).",
"entity_name": "CCT3",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:43:26.992720+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.15",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: CCT3 as Green List (high evidence)",
"entity_name": "CCT3",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:43:26.959046+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.15",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cct3 has been classified as Green List (High Evidence).",
"entity_name": "CCT3",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:42:03.616339+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.14",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CCT3 was added\ngene: CCT3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CCT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CCT3 were set to 39480921\nPhenotypes for gene: CCT3 were set to neurodevelopmental disorder MONDO:0700092, CCT3-related\nPenetrance for gene: CCT3 were set to Complete\nReview for gene: CCT3 was set to GREEN\ngene: CCT3 was marked as current diagnostic\nAdded comment: 4x de novo - 3x PTCs and 1x missense\r\n\r\noverlapping phenotypes:\r\n4/4 ID/DD\r\n3/4 visual impairment\r\n2/4 seizures\r\n4/4 Hypomyelination of white matter \nSources: Literature",
"entity_name": "CCT3",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:41:29.862019+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2190",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CCT3 as ready",
"entity_name": "CCT3",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:41:29.827907+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2190",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cct3 has been classified as Green List (High Evidence).",
"entity_name": "CCT3",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:41:29.687461+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2190",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CCT3 as ready",
"entity_name": "CCT3",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:41:29.664093+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2190",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cct3 has been classified as Green List (High Evidence).",
"entity_name": "CCT3",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:40:56.342233+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2190",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CCT3 were changed from to neurodevelopmental disorder MONDO:0700092, CCT3-related",
"entity_name": "CCT3",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:39:37.352439+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2189",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: CCT3 as Green List (high evidence)",
"entity_name": "CCT3",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:39:37.342643+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2189",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cct3 has been classified as Green List (High Evidence).",
"entity_name": "CCT3",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:38:57.734755+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2188",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CCT3 was added\ngene: CCT3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CCT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CCT3 were set to 39480921\nPenetrance for gene: CCT3 were set to Complete\nReview for gene: CCT3 was set to GREEN\ngene: CCT3 was marked as current diagnostic\nAdded comment: 4x de novo - 3x PTCs and 1x missense\r\n\r\noverlapping phenotypes:\r\n4/4 ID/DD\r\n3/4 visual impairment\r\n2/4 seizures\r\n4/4 Hypomyelination of white matter \nSources: Literature",
"entity_name": "CCT3",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:33:07.242593+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UGT1A1 as ready",
"entity_name": "UGT1A1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:33:07.224947+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ugt1a1 has been classified as Green List (High Evidence).",
"entity_name": "UGT1A1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:33:03.717155+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UGT1A1 were changed from to Crigler-Najjar syndrome, type I MIM#218800; Crigler-Najjar syndrome, type II MIM#606785",
"entity_name": "UGT1A1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:32:03.667088+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UGT1A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UGT1A1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:31:33.125319+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association. Cholestasis is a key feature.; to: Well established gene-disease association. Unconjugated hyperbilirubinaemia is a key feature.",
"entity_name": "UGT1A1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:30:49.258189+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UGT1A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Crigler-Najjar syndrome, type I MIM#218800, Crigler-Najjar syndrome, type II MIM#606785; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UGT1A1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:29:53.742233+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TALDO1 as ready",
"entity_name": "TALDO1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:29:53.728627+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taldo1 has been classified as Green List (High Evidence).",
"entity_name": "TALDO1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:27:39.778117+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TALDO1 were changed from to Transaldolase deficiency, MIM# 606003",
"entity_name": "TALDO1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:26:27.025673+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TALDO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TALDO1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:25:55.490456+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TALDO1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Transaldolase deficiency, MIM# 606003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TALDO1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:24:49.488654+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A13 as ready",
"entity_name": "SLC25A13",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:24:49.475675+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a13 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A13",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:24:44.318638+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A13 were changed from to Citrullinemia, type II, neonatal-onset, MIM# 605814",
"entity_name": "SLC25A13",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:24:07.358152+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC25A13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A13",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:23:31.493981+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC25A13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Citrullinemia, type II, neonatal-onset, MIM# 605814; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A13",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:22:26.647300+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX6 as ready",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:22:26.638690+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex6 has been classified as Green List (High Evidence).",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:17:34.416219+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.292",
"user_name": "Ain Roesley",
"item_type": "panel",
"text": "removed gene:CLASP1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-12-08T20:17:09.044695+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.292",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Source: Literature was removed from gene: CLASP1",
"entity_name": "CLASP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:14:34.346459+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX6 were changed from to Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862)",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:13:55.255135+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:13:10.877415+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:12:51.786639+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.13",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CLASP1 as ready",
"entity_name": "CLASP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:12:51.769865+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.13",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: clasp1 has been classified as Red List (Low Evidence).",
"entity_name": "CLASP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:12:23.844439+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.21",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CLASP1 as ready",
"entity_name": "CLASP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:12:23.827859+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.21",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: clasp1 has been classified as Red List (Low Evidence).",
"entity_name": "CLASP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:11:44.996557+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX26 as ready",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:11:44.953830+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex26 has been classified as Green List (High Evidence).",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:11:41.906570+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.78",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CLASP1 as ready",
"entity_name": "CLASP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:11:41.880244+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.78",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: clasp1 has been classified as Red List (Low Evidence).",
"entity_name": "CLASP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:11:41.207369+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX26 were changed from to Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:09:53.519532+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX26 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:08:41.117016+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX26: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:08:18.657483+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.289",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CLASP1 was added\ngene: CLASP1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: CLASP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLASP1 were set to 39040917\nPhenotypes for gene: CLASP1 were set to neurodevelopmental disorder MONDO:0700092, CLASP1-related\nReview for gene: CLASP1 was set to RED\ngene: CLASP1 was marked as current diagnostic\nAdded comment: 3 siblings from a consanguineous family, homozygous for p.(Arg1481His) \r\nat birth, all had low weight and microcephaly (< 3-4SD), profound dev delay, spasticity, seizures and lissencephaly\r\n\r\nArg1481His - 3 hets 0 Homs in v4\r\ncodon is highly conserved with a high REVEL score 0.83 \nSources: Literature",
"entity_name": "CLASP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:07:52.256223+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.289",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CLASP1 was added\ngene: CLASP1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: CLASP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLASP1 were set to 39040917\nPhenotypes for gene: CLASP1 were set to neurodevelopmental disorder MONDO:0700092, CLASP1-related\nReview for gene: CLASP1 was set to RED\ngene: CLASP1 was marked as current diagnostic\nAdded comment: 3 siblings from a consanguineous family, homozygous for p.(Arg1481His) \r\nat birth, all had low weight and microcephaly (< 3-4SD), profound dev delay, spasticity, seizures and lissencephaly\r\n\r\nArg1481His - 3 hets 0 Homs in v4\r\ncodon is highly conserved with a high REVEL score 0.83 \nSources: Literature",
"entity_name": "CLASP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:07:51.215725+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX2 as ready",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:07:51.194801+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex2 has been classified as Green List (High Evidence).",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:07:51.029374+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.13",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CLASP1 was added\ngene: CLASP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CLASP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLASP1 were set to 39040917\nPhenotypes for gene: CLASP1 were set to neurodevelopmental disorder MONDO:0700092, CLASP1-related\nReview for gene: CLASP1 was set to RED\ngene: CLASP1 was marked as current diagnostic\nAdded comment: 3 siblings from a consanguineous family, homozygous for p.(Arg1481His) \r\nat birth, all had low weight and microcephaly (< 3-4SD), profound dev delay, spasticity, seizures and lissencephaly\r\n\r\nArg1481His - 3 hets 0 Homs in v4\r\ncodon is highly conserved with a high REVEL score 0.83 \nSources: Literature",
"entity_name": "CLASP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:07:47.934031+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX2 were changed from Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866 to Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:07:46.832918+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.21",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CLASP1 was added\ngene: CLASP1 was added to Lissencephaly and Band Heterotopia. Sources: Literature\nMode of inheritance for gene: CLASP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLASP1 were set to 39040917\nPhenotypes for gene: CLASP1 were set to neurodevelopmental disorder MONDO:0700092, CLASP1-related\nReview for gene: CLASP1 was set to RED\ngene: CLASP1 was marked as current diagnostic\nAdded comment: 3 siblings from a consanguineous family, homozygous for p.(Arg1481His) \r\nat birth, all had low weight and microcephaly (< 3-4SD), profound dev delay, spasticity, seizures and lissencephaly\r\n\r\nArg1481His - 3 hets 0 Homs in v4\r\ncodon is highly conserved with a high REVEL score 0.83 \nSources: Literature",
"entity_name": "CLASP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:07:23.628555+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX2 were changed from to Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:07:17.078681+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.78",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CLASP1 was added\ngene: CLASP1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: CLASP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLASP1 were set to 39040917\nPhenotypes for gene: CLASP1 were set to neurodevelopmental disorder MONDO:0700092, CLASP1-related\nReview for gene: CLASP1 was set to RED\ngene: CLASP1 was marked as current diagnostic\nAdded comment: 3 siblings from a consanguineous family, homozygous for p.(Arg1481His) \r\nat birth, all had low weight and microcephaly (< 3-4SD), profound dev delay, spasticity, seizures and lissencephaly\r\n\r\nArg1481His - 3 hets 0 Homs in v4\r\ncodon is highly conserved with a high REVEL score 0.83 \nSources: Literature",
"entity_name": "CLASP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:04:16.935874+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2187",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CLASP1 as ready",
"entity_name": "CLASP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:04:16.920003+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2187",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: clasp1 has been classified as Red List (Low Evidence).",
"entity_name": "CLASP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:03:11.873434+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2187",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CLASP1 was added\ngene: CLASP1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CLASP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLASP1 were set to 39040917\nPhenotypes for gene: CLASP1 were set to neurodevelopmental disorder MONDO:0700092, CLASP1-related\nReview for gene: CLASP1 was set to RED\ngene: CLASP1 was marked as current diagnostic\nAdded comment: 3 siblings from a consanguineous family, homozygous for p.(Arg1481His) \r\nat birth, all had low weight and microcephaly (< 3-4SD), profound dev delay, spasticity, seizures and lissencephaly\r\n\r\nArg1481His - 3 hets 0 Homs in v4\r\ncodon is highly conserved with a high REVEL score 0.83 \nSources: Literature",
"entity_name": "CLASP1",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:01:14.901904+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2024-12-08T20:00:38.837536+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2024-12-08T19:59:51.449050+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX12 as ready",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2024-12-08T19:59:51.434620+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex12 has been classified as Green List (High Evidence).",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2024-12-08T19:59:37.715455+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX12 were changed from to Peroxisome biogenesis disorder 3A (Zellweger) (MIM#614859)",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2024-12-08T19:58:55.214862+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2024-12-08T19:58:21.514271+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 3A (Zellweger) (MIM#614859); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2024-12-08T19:57:00.967019+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX1 as ready",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2024-12-08T19:57:00.952697+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex1 has been classified as Green List (High Evidence).",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2024-12-08T19:56:57.266200+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX1 were changed from to Peroxisome biogenesis disorder 1A (Zellweger), MIM# 214100",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2024-12-08T19:55:31.943254+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2024-12-08T19:54:57.951054+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 1A (Zellweger), MIM# 214100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2024-12-08T18:46:46.015320+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPC2 as ready",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2024-12-08T18:46:45.992798+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: npc2 has been classified as Green List (High Evidence).",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2024-12-08T18:44:41.346399+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPC2 were changed from to Niemann-pick disease, type C2 MIM#607625",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2024-12-08T18:43:04.550204+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NPC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2024-12-08T18:42:09.633863+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Niemann-pick disease, type C2 MIM#607625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2024-12-08T18:41:10.721214+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NPC1 as ready",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2024-12-08T18:41:10.683266+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: npc1 has been classified as Green List (High Evidence).",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2024-12-08T18:40:59.838007+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NPC1 were changed from to Niemann-Pick disease, MIM# 257220",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2024-12-08T18:40:21.273937+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NPC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2024-12-08T18:39:48.519578+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Niemann-Pick disease, MIM# 257220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2024-12-08T17:00:21.288142+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JAG1 as ready",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2024-12-08T17:00:21.264908+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jag1 has been classified as Green List (High Evidence).",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2024-12-08T17:00:18.086078+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: JAG1 were changed from to Alagille syndrome, MIM#118450",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2024-12-08T16:58:13.877327+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: JAG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2024-12-08T16:57:34.903187+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: JAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alagille syndrome, MIM# 1, 118450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2024-12-08T16:56:48.735720+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAH as ready",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2024-12-08T16:56:48.716253+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fah has been classified as Green List (High Evidence).",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2024-12-08T16:56:44.468425+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAH were changed from Tyrosinemia, type I, MIM# 276700 to Tyrosinaemia, type I, MIM# 276700",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2024-12-08T16:56:13.772188+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAH were changed from to Tyrosinemia, type I, MIM# 276700",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2024-12-08T16:55:40.605158+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2024-12-08T16:55:08.598886+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FAH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tyrosinemia, type I, MIM# 276700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2024-12-08T16:54:10.401195+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DCDC2 as ready",
"entity_name": "DCDC2",
"entity_type": "gene"
}
]
}