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{
"count": 220377,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1298",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1296",
"results": [
{
"created": "2021-06-14T17:50:31.623236+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb42 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZBTB42",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:50:28.403704+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZBTB42 as Amber List (moderate evidence)",
"entity_name": "ZBTB42",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:50:28.393384+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb42 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZBTB42",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:50:05.075899+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZBTB42 was added\ngene: ZBTB42 was added to Arthrogryposis. Sources: Expert Review\nMode of inheritance for gene: ZBTB42 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZBTB42 were set to 25055871\nPhenotypes for gene: ZBTB42 were set to Lethal congenital contracture syndrome 6, MIM# 616248\nReview for gene: ZBTB42 was set to AMBER\nAdded comment: Homozygous missense variant reported in a family with three stillbirths and a phenotype consistent with LCCS. Supportive zebrafish model. \nSources: Expert Review",
"entity_name": "ZBTB42",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:48:52.433487+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7975",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZBTB42 as ready",
"entity_name": "ZBTB42",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:48:52.424254+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7975",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb42 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZBTB42",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:48:42.238223+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7975",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZBTB42 as Amber List (moderate evidence)",
"entity_name": "ZBTB42",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:48:42.228250+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7975",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb42 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZBTB42",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:48:25.320228+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7974",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZBTB42 was added\ngene: ZBTB42 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: ZBTB42 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZBTB42 were set to 25055871\nPhenotypes for gene: ZBTB42 were set to Lethal congenital contracture syndrome 6, MIM# 616248\nReview for gene: ZBTB42 was set to AMBER\nAdded comment: Homozygous missense variant reported in a family with three stillbirths and a phenotype consistent with LCCS. Supportive zebrafish model. \nSources: Expert Review",
"entity_name": "ZBTB42",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:47:08.192377+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZBTB42 as ready",
"entity_name": "ZBTB42",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:47:08.180614+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb42 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZBTB42",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:47:04.191586+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZBTB42 as Amber List (moderate evidence)",
"entity_name": "ZBTB42",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:47:04.180071+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zbtb42 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZBTB42",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:46:35.113911+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZBTB42 was added\ngene: ZBTB42 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Expert Review\nMode of inheritance for gene: ZBTB42 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZBTB42 were set to 25055871\nPhenotypes for gene: ZBTB42 were set to Lethal congenital contracture syndrome 6, MIM#\t616248\nReview for gene: ZBTB42 was set to AMBER\nAdded comment: Homozygous missense variant reported in a family with three stillbirths and a phenotype consistent with LCCS. Supportive zebrafish model. \nSources: Expert Review",
"entity_name": "ZBTB42",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:38:37.976665+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: NEK9.",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:38:12.400972+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEK9 as ready",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:38:12.391689+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nek9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:38:08.837276+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NEK9 as Amber List (moderate evidence)",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:38:08.827947+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nek9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:37:37.777306+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEK9 was added\ngene: NEK9 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Literature\nMode of inheritance for gene: NEK9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NEK9 were set to 26908619\nPhenotypes for gene: NEK9 were set to Lethal congenital contracture syndrome 10, MIM# 617022\nReview for gene: NEK9 was set to AMBER\nAdded comment: PMID 26908619: Two Irish traveller families, 5 affected individuals, same homozygous variant identified (founder effect). Limited functional data.\r\n\r\nAnother family reported with milder arthrogryposis. \nSources: Literature",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:19:41.396826+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYBPC1 as ready",
"entity_name": "MYBPC1",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:19:41.387589+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mybpc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYBPC1",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:19:32.044333+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYBPC1 as ready",
"entity_name": "MYBPC1",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:19:32.033945+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mybpc1 has been classified as Green List (High Evidence).",
"entity_name": "MYBPC1",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:19:13.346585+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYBPC1 were changed from Distal arthrogryposis type I to Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4, MIM# 614915; Myopathy, congenital, with tremor MIM#618524",
"entity_name": "MYBPC1",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:19:01.920768+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYBPC1 were set to ",
"entity_name": "MYBPC1",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:18:24.989738+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYBPC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MYBPC1",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:18:13.688026+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYBPC1 as Green List (high evidence)",
"entity_name": "MYBPC1",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:18:13.678800+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mybpc1 has been classified as Green List (High Evidence).",
"entity_name": "MYBPC1",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:18:02.841876+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYBPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20045868, 22610851, 23873045, 26661508, 31264822, 31025394; Phenotypes: Arthrogryposis, distal, type 1B 614335, Lethal congenital contracture syndrome 4, MIM# 614915, Myopathy, congenital, with tremor MIM#618524; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MYBPC1",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:17:17.312145+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYBPC1 as ready",
"entity_name": "MYBPC1",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:17:17.301762+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mybpc1 has been classified as Green List (High Evidence).",
"entity_name": "MYBPC1",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:17:09.080429+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYBPC1 were changed from to Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4, MIM# 614915; Myopathy, congenital, with tremor MIM#618524",
"entity_name": "MYBPC1",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:16:47.358451+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYBPC1 were set to ",
"entity_name": "MYBPC1",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:16:22.798563+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7971",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYBPC1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MYBPC1",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:16:06.529006+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYBPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20045868, 22610851, 23873045, 26661508, 31264822, 31025394; Phenotypes: Arthrogryposis, distal, type 1B 614335, Lethal congenital contracture syndrome 4, MIM# 614915, Myopathy, congenital, with tremor MIM#618524; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MYBPC1",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:13:49.392732+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYBPC1 as ready",
"entity_name": "MYBPC1",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:13:49.382407+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mybpc1 has been classified as Green List (High Evidence).",
"entity_name": "MYBPC1",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:13:46.932350+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYBPC1 were changed from to Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4, MIM# 614915",
"entity_name": "MYBPC1",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:13:19.225849+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYBPC1 were set to ",
"entity_name": "MYBPC1",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:12:50.325249+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYBPC1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MYBPC1",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:12:15.933109+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYBPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20045868, 22610851, 23873045, 26661508, 31264822; Phenotypes: Arthrogryposis, distal, type 1B 614335, Lethal congenital contracture syndrome 4, MIM# 614915; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MYBPC1",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:10:15.542302+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYBPC1 as Amber List (moderate evidence)",
"entity_name": "MYBPC1",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:10:15.533773+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mybpc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYBPC1",
"entity_type": "gene"
},
{
"created": "2021-06-14T17:09:46.246059+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYBPC1 was added\ngene: MYBPC1 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Expert Review\nMode of inheritance for gene: MYBPC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYBPC1 were set to 22610851; 23873045\nPhenotypes for gene: MYBPC1 were set to Lethal congenital contracture syndrome 4, MIM#\t614915\nReview for gene: MYBPC1 was set to AMBER\nAdded comment: Two families reported with lethal congenital contractures, same small ethnic group and same variant, founder. However, gene is associated with a range of neuromuscular phenotypes, including milder forms of arthrogryposis, and zebrafish model is supportive. \nSources: Expert Review",
"entity_name": "MYBPC1",
"entity_type": "gene"
},
{
"created": "2021-06-14T16:38:28.996482+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERBB3 as ready",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2021-06-14T16:38:28.986770+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: erbb3 has been classified as Green List (High Evidence).",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2021-06-14T16:38:21.607536+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERBB3 were changed from Lethal congenital contractural syndrome 2, MIM# 607598 to Lethal congenital contractural syndrome 2, MIM# 607598; Hirschsprung disease; Arthrogryposis",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2021-06-14T16:38:04.793800+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERBB3 were set to 17701904; 31752936",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2021-06-14T16:37:12.062311+10:00",
"panel_name": "Hirschsprung disease",
"panel_id": 110,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERBB3 were changed from Hirschsprung disease (HSCR) aganglionic megacolon, MIM#142623 to Hirschsprung disease; Arthrogryposis",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2021-06-14T16:36:03.941934+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERBB3 as ready",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2021-06-14T16:36:03.932059+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: erbb3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2021-06-14T16:33:47.152112+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ERBB3 as Amber List (moderate evidence)",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2021-06-14T16:33:47.143227+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: erbb3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2021-06-14T16:33:19.486329+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERBB3 was added\ngene: ERBB3 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Literature\nMode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERBB3 were set to 17701904; 31752936\nPhenotypes for gene: ERBB3 were set to Lethal congenital contractural syndrome 2, MIM# 607598\nReview for gene: ERBB3 was set to AMBER\nAdded comment: Two families reported with contractures, positional approach used in gene discovery (2007). Another family reported more recently with a multi-system disorder but without contractures. \nSources: Literature",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2021-06-14T16:31:48.928773+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADCY6 as ready",
"entity_name": "ADCY6",
"entity_type": "gene"
},
{
"created": "2021-06-14T16:31:48.912883+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adcy6 has been classified as Green List (High Evidence).",
"entity_name": "ADCY6",
"entity_type": "gene"
},
{
"created": "2021-06-14T16:30:54.815930+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7968",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADCY6 were changed from Lethal congenital contracture syndrome 8, OMIM # 616287 to Lethal congenital contracture syndrome 8, OMIM # 616287; MONDO:0014570",
"entity_name": "ADCY6",
"entity_type": "gene"
},
{
"created": "2021-06-14T16:30:46.490072+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADCY6 were changed from Lethal congenital contracture syndrome 8, MIM#\t616287; MONDO:0014570 to Lethal congenital contracture syndrome 8, MIM#\t616287; MONDO:0014570",
"entity_name": "ADCY6",
"entity_type": "gene"
},
{
"created": "2021-06-14T16:30:16.126924+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADCY6 were changed from Lethal congenital contracture syndrome 8, OMIM # 616287; MONDO:0014570 to Lethal congenital contracture syndrome 8, OMIM # 616287; MONDO:0014570",
"entity_name": "ADCY6",
"entity_type": "gene"
},
{
"created": "2021-06-14T16:29:52.750053+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADCY6 were changed from Lethal congenital contracture syndrome 8, OMIM # 616287 to Lethal congenital contracture syndrome 8, OMIM # 616287; MONDO:0014570",
"entity_name": "ADCY6",
"entity_type": "gene"
},
{
"created": "2021-06-14T16:29:37.583219+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADCY6 were changed from Lethal congenital contracture syndrome 8, MIM#\t616287 to Lethal congenital contracture syndrome 8, MIM#\t616287; MONDO:0014570",
"entity_name": "ADCY6",
"entity_type": "gene"
},
{
"created": "2021-06-14T16:28:44.779465+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADCY6 as Green List (high evidence)",
"entity_name": "ADCY6",
"entity_type": "gene"
},
{
"created": "2021-06-14T16:28:44.769763+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adcy6 has been classified as Green List (High Evidence).",
"entity_name": "ADCY6",
"entity_type": "gene"
},
{
"created": "2021-06-14T16:28:15.393821+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADCY6 was added\ngene: ADCY6 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Literature\nMode of inheritance for gene: ADCY6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADCY6 were set to 24319099; 26257172; 31846058\nPhenotypes for gene: ADCY6 were set to Lethal congenital contracture syndrome 8, MIM#\t616287\nReview for gene: ADCY6 was set to GREEN\nAdded comment: Three unrelated families and supportive data from a zebrafish model. \nSources: Literature",
"entity_name": "ADCY6",
"entity_type": "gene"
},
{
"created": "2021-06-14T16:19:40.805423+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7967",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ADGRG6: Changed phenotypes: Lethal congenital contracture syndrome 9, MIM #616503, MONDO:0014670",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2021-06-14T16:19:19.013414+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADGRG6 were changed from Lethal congenital contracture syndrome 9; OMIM #616503 to Lethal congenital contracture syndrome 9; OMIM #616503; MONDO:0014670",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2021-06-14T16:18:38.435380+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Comment when marking as ready: Gene previously known as GPR126.; to: Comment when marking as ready: Gene previously known as GPR126. Three unrelated families with severe perinatal arthrogryposis.",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2021-06-14T16:18:16.375311+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ADGRG6: Changed rating: GREEN",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2021-06-14T16:17:53.837184+10:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ADGRG6: Changed phenotypes: Lethal congenital contracture syndrome 9, OMIM #616503, MONDO:0014670",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2021-06-14T16:17:37.411557+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADGRG6 as ready",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2021-06-14T16:17:37.401431+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adgrg6 has been classified as Green List (High Evidence).",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2021-06-14T16:17:24.611778+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADGRG6 as Green List (high evidence)",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2021-06-14T16:17:24.602888+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adgrg6 has been classified as Green List (High Evidence).",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2021-06-14T16:16:56.060663+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADGRG6 was added\ngene: ADGRG6 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Expert Review\nMode of inheritance for gene: ADGRG6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADGRG6 were set to 26004201; 33820833\nPhenotypes for gene: ADGRG6 were set to Lethal congenital contracture syndrome 9, MIM#\t616503; MONDO:0014670\nReview for gene: ADGRG6 was set to GREEN\nAdded comment: At least 3 unrelated families reported with severe perinatal phenotype. Gene previously known as GPR126. \nSources: Expert Review",
"entity_name": "ADGRG6",
"entity_type": "gene"
},
{
"created": "2021-06-14T15:56:00.141480+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7967",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: TRPM6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypomagnesemia 1, intestinal (MIM#602014), AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRPM6",
"entity_type": "gene"
},
{
"created": "2021-06-13T20:24:58.008646+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUP88 as ready",
"entity_name": "NUP88",
"entity_type": "gene"
},
{
"created": "2021-06-13T20:24:57.999117+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup88 has been classified as Green List (High Evidence).",
"entity_name": "NUP88",
"entity_type": "gene"
},
{
"created": "2021-06-13T20:24:08.788512+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NUP88 as Green List (high evidence)",
"entity_name": "NUP88",
"entity_type": "gene"
},
{
"created": "2021-06-13T20:24:08.778121+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup88 has been classified as Green List (High Evidence).",
"entity_name": "NUP88",
"entity_type": "gene"
},
{
"created": "2021-06-13T20:23:41.964322+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUP88 was added\ngene: NUP88 was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Literature\nMode of inheritance for gene: NUP88 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUP88 were set to 30543681\nPhenotypes for gene: NUP88 were set to Fetal akinesia deformation sequence 4, MIM#\t618393\nReview for gene: NUP88 was set to GREEN\nAdded comment: Two families and a zebrafish model. \nSources: Literature",
"entity_name": "NUP88",
"entity_type": "gene"
},
{
"created": "2021-06-13T20:21:25.288518+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RYR1 as ready",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2021-06-13T20:21:25.278130+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ryr1 has been classified as Green List (High Evidence).",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2021-06-13T20:21:21.112437+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RYR1 were changed from to Fetal akinesia sequence",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2021-06-13T20:20:59.688716+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RYR1 were set to ",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2021-06-13T20:20:29.300957+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RYR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2021-06-13T20:20:05.922230+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32655342, 32097819, 30236493; Phenotypes: Fetal akinesia sequence; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2021-06-13T20:18:01.902117+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGRN as ready",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2021-06-13T20:18:01.892208+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agrn has been classified as Amber List (Moderate Evidence).",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2021-06-13T20:17:46.825295+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AGRN as Amber List (moderate evidence)",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2021-06-13T20:17:46.816479+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agrn has been classified as Amber List (Moderate Evidence).",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2021-06-13T20:17:16.486966+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGRN was added\ngene: AGRN was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Literature\nMode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGRN were set to 31730230\nPhenotypes for gene: AGRN were set to Fetal akinesia sequence\nReview for gene: AGRN was set to AMBER\nAdded comment: Single report of homozygous intragenic deletion causing fetal akinesia sequence. Association with congenital myasthenia is well established. \nSources: Literature",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2021-06-13T20:14:56.324666+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAPSN as ready",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2021-06-13T20:14:56.314727+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rapsn has been classified as Green List (High Evidence).",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2021-06-13T20:14:45.150014+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAPSN were changed from to Fetal akinesia deformation sequence 2, MIM# 618388",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2021-06-13T20:14:22.836878+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAPSN were set to ",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2021-06-13T20:13:48.474404+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAPSN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2021-06-13T20:13:20.050654+10:00",
"panel_name": "Multiple pterygium syndrome_Fetal akinesia sequence",
"panel_id": 139,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAPSN: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179903, 18252226, 28495245; Phenotypes: Fetal akinesia deformation sequence 2, MIM# 618388; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2021-06-13T20:08:10.549213+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7967",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MUSK as ready",
"entity_name": "MUSK",
"entity_type": "gene"
},
{
"created": "2021-06-13T20:08:10.539541+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7967",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: musk has been classified as Green List (High Evidence).",
"entity_name": "MUSK",
"entity_type": "gene"
}
]
}