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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1693",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1691",
"results": [
{
"created": "2020-08-02T18:58:09.285696+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIK3R1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: SHORT syndrome, MIM# 269880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:56:28.475533+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAX6 as ready",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:56:28.465358+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pax6 has been classified as Green List (High Evidence).",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:56:24.461377+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PAX6 were changed from to Anterior segment dysgenesis 5, multiple subtypes, MIM# 604229",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:54:57.501746+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAX6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:54:35.337283+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Anterior segment dysgenesis 5, multiple subtypes, MIM# 604229; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:52:56.510923+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MFRP as ready",
"entity_name": "MFRP",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:52:56.500760+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mfrp has been classified as Amber List (Moderate Evidence).",
"entity_name": "MFRP",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:52:53.768167+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MFRP were changed from to Microphthalmia, isolated 5, MIM# 611040",
"entity_name": "MFRP",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:52:27.958350+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MFRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MFRP",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:52:05.263042+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MFRP as Amber List (moderate evidence)",
"entity_name": "MFRP",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:52:05.253160+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mfrp has been classified as Amber List (Moderate Evidence).",
"entity_name": "MFRP",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:51:39.292835+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MFRP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Microphthalmia, isolated 5, MIM# 611040; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MFRP",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:48:14.819029+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXE3 as ready",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:48:14.802046+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxe3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:48:03.050205+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXE3 as Amber List (moderate evidence)",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:48:03.038860+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxe3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:47:35.731326+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXE3 was added\ngene: FOXE3 was added to Glaucoma congenital. Sources: Expert list\nMode of inheritance for gene: FOXE3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FOXE3 were set to 27218149\nPhenotypes for gene: FOXE3 were set to Anterior segment dysgenesis 2, multiple subtypes, MIM#\t610256\nReview for gene: FOXE3 was set to AMBER\nAdded comment: Complex eye phenotype, glaucoma described in at least one family. \nSources: Expert list",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:25:29.347431+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBN1 as Amber List (moderate evidence)",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:25:29.337608+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbn1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:25:03.513936+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Glaucoma is part of the phenotype.; to: Few families reported with WMS phenotype, limited reports of glaucoma.",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:24:35.353660+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FBN1: Changed rating: AMBER",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:24:27.064685+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBN1 as ready",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:24:27.054744+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.18",
"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": "2020-08-02T18:24:21.163119+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBN1 were changed from to Weill-Marchesani syndrome 2, dominant, MIM# 608328",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:23:14.415871+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FBN1 were set to ",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:18:10.214158+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.16",
"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": "2020-08-02T18:17:43.076618+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Weill-Marchesani syndrome 2, dominant, MIM# 608328; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:16:25.781121+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EP300 as ready",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:16:25.771023+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ep300 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:16:23.156701+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EP300 were changed from to Rubinstein-Taybi syndrome 2, MIM# 613684",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:16:02.114278+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EP300 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:15:38.393707+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EP300 as Amber List (moderate evidence)",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:15:38.384052+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ep300 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:15:12.558665+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EP300: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Rubinstein-Taybi syndrome 2, MIM# 613684; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:13:01.566611+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CREBBP as ready",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:13:01.555697+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crebbp has been classified as Green List (High Evidence).",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:12:59.308080+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CREBBP were changed from to Rubinstein-Taybi syndrome 1, MIM# 180849",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:12:29.998680+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CREBBP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:12:07.105656+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CREBBP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Rubinstein-Taybi syndrome 1, MIM# 180849; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:10:37.688043+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CPAMD8 as ready",
"entity_name": "CPAMD8",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:10:37.678736+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpamd8 has been classified as Green List (High Evidence).",
"entity_name": "CPAMD8",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:10:24.929667+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CPAMD8 as Green List (high evidence)",
"entity_name": "CPAMD8",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:10:24.919601+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpamd8 has been classified as Green List (High Evidence).",
"entity_name": "CPAMD8",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:09:59.005611+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CPAMD8 was added\ngene: CPAMD8 was added to Glaucoma congenital. Sources: Expert list\nMode of inheritance for gene: CPAMD8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CPAMD8 were set to 29556725\nPhenotypes for gene: CPAMD8 were set to Anterior segment dysgenesis 8, MIM#\t617319\nReview for gene: CPAMD8 was set to GREEN\nAdded comment: Anterior segment dysgenesis, glaucoma specifically reported in 8 families. \nSources: Expert list",
"entity_name": "CPAMD8",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:02:31.120718+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL4A1 as ready",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:02:31.111860+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:02:28.635696+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A1 were changed from to Brain small vessel disease with or without ocular anomalies, MIM# 175780",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:02:01.440608+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL4A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:01:36.274526+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL4A1 as Amber List (moderate evidence)",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:01:36.264901+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-08-02T18:01:13.923527+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL4A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Brain small vessel disease with or without ocular anomalies, MIM# 175780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:59:38.110165+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAMTS17 as ready",
"entity_name": "ADAMTS17",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:59:38.101441+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamts17 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS17",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:59:33.791235+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADAMTS17 as Green List (high evidence)",
"entity_name": "ADAMTS17",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:59:33.781582+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamts17 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS17",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:59:07.068461+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADAMTS17 was added\ngene: ADAMTS17 was added to Glaucoma congenital. Sources: Expert list\nMode of inheritance for gene: ADAMTS17 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAMTS17 were set to Weill-Marchesani 4 syndrome, recessive, MIM#\t613195\nReview for gene: ADAMTS17 was set to GREEN\nAdded comment: Complex eye phenotype associated with this syndrome, including glaucoma. \nSources: Expert list",
"entity_name": "ADAMTS17",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:55:56.821509+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAMTS10 as ready",
"entity_name": "ADAMTS10",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:55:56.810650+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamts10 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS10",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:55:51.916737+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADAMTS10 as Green List (high evidence)",
"entity_name": "ADAMTS10",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:55:51.908409+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamts10 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS10",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:55:29.874313+10:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADAMTS10 was added\ngene: ADAMTS10 was added to Glaucoma congenital. Sources: Expert list\nMode of inheritance for gene: ADAMTS10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAMTS10 were set to Weill-Marchesani syndrome 1, recessive, MIM#\t277600\nReview for gene: ADAMTS10 was set to GREEN\nAdded comment: Well established gene-disease association with Weill-Marchesani syndrome, a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma (present in ~75%), and, occasionally, heart defects. \nSources: Expert list",
"entity_name": "ADAMTS10",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:49:49.717215+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGFB3 as ready",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:49:49.706426+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgfb3 has been classified as Red List (Low Evidence).",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:49:43.119219+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TGFB3 were changed from to Arrhythmogenic right ventricular dysplasia 1, MIM# 107970",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:49:22.516169+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TGFB3 were set to ",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:48:56.622179+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TGFB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:48:27.431324+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TGFB3 as Red List (low evidence)",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:48:27.421666+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgfb3 has been classified as Red List (Low Evidence).",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:48:03.863513+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag 5'UTR tag was added to gene: TGFB3.",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:47:45.154975+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TGFB3: Rating: RED; Mode of pathogenicity: None; Publications: 15639475; Phenotypes: Arrhythmogenic right ventricular dysplasia 1, MIM# 107970; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:43:50.793330+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RYR2 as ready",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:43:50.780641+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ryr2 has been classified as Green List (High Evidence).",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:43:48.581832+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RYR2 were changed from to Arrhythmogenic right ventricular dysplasia 2, MIM# 600996",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:43:27.828697+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RYR2 were set to ",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:42:40.734155+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RYR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:42:13.376678+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11159936, 25041964; Phenotypes: Arrhythmogenic right ventricular dysplasia 2, MIM# 600996; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:38:12.703642+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLN as ready",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:38:12.695544+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pln has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:38:04.434107+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: PLN.",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:37:55.955469+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLN as Amber List (moderate evidence)",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:37:55.947206+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pln has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:37:33.631144+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLN was added\ngene: PLN was added to Arrhythmogenic Right Ventricular Cardiomyopathy. Sources: Expert list\nMode of inheritance for gene: PLN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PLN were set to 22820313\nPhenotypes for gene: PLN were set to Arrhythmogenic right ventricular cardiomyopathy\nReview for gene: PLN was set to AMBER\nAdded comment: One specific Dutch founder variant in this gene is associated with ARVC: R14del. Gene is otherwise predominantly associated with cardiomyopathy. \nSources: Expert list",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:34:20.889640+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FLNC as ready",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:34:20.881278+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flnc has been classified as Amber List (Moderate Evidence).",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:34:15.908722+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FLNC as Amber List (moderate evidence)",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:34:15.897269+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flnc has been classified as Amber List (Moderate Evidence).",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:33:50.229138+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FLNC was added\ngene: FLNC was added to Arrhythmogenic Right Ventricular Cardiomyopathy. Sources: Expert list\nMode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FLNC were set to 31924696\nPhenotypes for gene: FLNC were set to Arrhythmogenic right ventricular cardiomyopathy\nReview for gene: FLNC was set to AMBER\nAdded comment: Two families reported with truncating variants in this gene and ARVC. Gene is also associated with cardiomyopathy. \nSources: Expert list",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:27:26.645623+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHD2 as Amber List (moderate evidence)",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:27:26.637754+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2020-08-02T17:27:00.731757+10:00",
"panel_name": "Arrhythmogenic Right Ventricular Cardiomyopathy",
"panel_id": 48,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CHD2: Changed rating: AMBER",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2020-08-02T14:50:49.180159+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IVNS1ABP as ready",
"entity_name": "IVNS1ABP",
"entity_type": "gene"
},
{
"created": "2020-08-02T14:50:49.169390+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ivns1abp has been classified as Green List (High Evidence).",
"entity_name": "IVNS1ABP",
"entity_type": "gene"
},
{
"created": "2020-08-02T14:50:41.965119+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IVNS1ABP were changed from Primary immunodeficiency to Immunodeficiency 70, MIM#618969",
"entity_name": "IVNS1ABP",
"entity_type": "gene"
},
{
"created": "2020-08-02T14:50:23.787725+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IVNS1ABP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 70, MIM#618969; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IVNS1ABP",
"entity_type": "gene"
},
{
"created": "2020-08-02T14:50:03.717404+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IVNS1ABP were changed from Primary immunodeficiency to Immunodeficiency 70, MIM#618969",
"entity_name": "IVNS1ABP",
"entity_type": "gene"
},
{
"created": "2020-08-02T14:49:34.467418+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IVNS1ABP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 70, MIM#618969; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IVNS1ABP",
"entity_type": "gene"
},
{
"created": "2020-08-02T14:48:23.631526+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFNG were changed from Mendelian susceptibility to mycobacterial disease to Mendelian susceptibility to mycobacterial disease; Immunodeficiency 69, MIM#618963",
"entity_name": "IFNG",
"entity_type": "gene"
},
{
"created": "2020-08-02T14:48:06.471968+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IFNG: Changed phenotypes: Mendelian susceptibility to mycobacterial disease, Immunodeficiency 69, MIM#618963",
"entity_name": "IFNG",
"entity_type": "gene"
},
{
"created": "2020-08-02T14:45:44.721703+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TOR1A were changed from Arthrogryposis to Arthrogryposis multiplex congenita, MIM#618947",
"entity_name": "TOR1A",
"entity_type": "gene"
}
]
}