{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1074","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1072","results":[{"created":"2021-12-20T18:20:32.274158+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1555","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: VPS53.","entity_name":"VPS53","entity_type":"gene"},{"created":"2021-12-20T18:20:22.956266+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1555","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: VPS53: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 2E, OMIM #615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"VPS53","entity_type":"gene"},{"created":"2021-12-20T18:19:29.578655+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4387","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: VPS53.","entity_name":"VPS53","entity_type":"gene"},{"created":"2021-12-20T18:19:21.404585+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4387","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VPS53 as ready","entity_name":"VPS53","entity_type":"gene"},{"created":"2021-12-20T18:19:21.394174+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4387","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps53 has been classified as Green List (High Evidence).","entity_name":"VPS53","entity_type":"gene"},{"created":"2021-12-20T18:19:16.332477+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4387","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: VPS53 were changed from  to Pontocerebellar hypoplasia, type 2E, OMIM #615851","entity_name":"VPS53","entity_type":"gene"},{"created":"2021-12-20T18:18:50.307333+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4386","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: VPS53 were set to ","entity_name":"VPS53","entity_type":"gene"},{"created":"2021-12-20T18:18:16.656668+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4385","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: VPS53 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"VPS53","entity_type":"gene"},{"created":"2021-12-20T18:17:42.390359+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4384","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Multiple Moroccan Jewish families reported, segregating two founder variants.; to: Multiple Moroccan Jewish families reported, segregating two founder variants. ID is part of the phenotype.","entity_name":"VPS53","entity_type":"gene"},{"created":"2021-12-20T18:17:27.739189+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4384","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: VPS53: Rating: GREEN; Mode of pathogenicity: None; Publications: 24577744, 12920088; Phenotypes: Pontocerebellar hypoplasia, type 2E, OMIM #615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"VPS53","entity_type":"gene"},{"created":"2021-12-20T18:16:26.853202+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10330","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: VPS53: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 2E, OMIM #615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"VPS53","entity_type":"gene"},{"created":"2021-12-20T18:15:51.651396+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10330","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: VPS53.","entity_name":"VPS53","entity_type":"gene"},{"created":"2021-12-20T18:15:02.591468+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10330","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: VPS53 were changed from  to Pontocerebellar hypoplasia, type 2E, OMIM #615851","entity_name":"VPS53","entity_type":"gene"},{"created":"2021-12-20T18:14:45.857309+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10329","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: VPS53 were set to ","entity_name":"VPS53","entity_type":"gene"},{"created":"2021-12-20T18:14:27.522545+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10328","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: VPS53 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"VPS53","entity_type":"gene"},{"created":"2021-12-20T18:13:33.477962+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10327","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NKX2-6 as ready","entity_name":"NKX2-6","entity_type":"gene"},{"created":"2021-12-20T18:13:33.467740+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10327","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nkx2-6 has been classified as Green List (High Evidence).","entity_name":"NKX2-6","entity_type":"gene"},{"created":"2021-12-20T18:13:24.654852+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10327","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NKX2-6 were changed from  to Conotruncal heart malformations - MIM#217095; Persistent truncus arteriosus - MIM#217095","entity_name":"NKX2-6","entity_type":"gene"},{"created":"2021-12-20T18:13:05.400214+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10326","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NKX2-6 were set to ","entity_name":"NKX2-6","entity_type":"gene"},{"created":"2021-12-20T18:12:47.830609+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10325","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NKX2-6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NKX2-6","entity_type":"gene"},{"created":"2021-12-20T18:12:24.940000+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NKX2-6 as ready","entity_name":"NKX2-6","entity_type":"gene"},{"created":"2021-12-20T18:12:24.930419+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nkx2-6 has been classified as Green List (High Evidence).","entity_name":"NKX2-6","entity_type":"gene"},{"created":"2021-12-20T18:12:21.570363+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NKX2-6 were changed from  to Conotruncal heart malformations - MIM#217095; Persistent truncus arteriosus - MIM#217095","entity_name":"NKX2-6","entity_type":"gene"},{"created":"2021-12-20T18:11:51.986902+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NKX2-6 were set to ","entity_name":"NKX2-6","entity_type":"gene"},{"created":"2021-12-20T18:11:27.871614+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NKX2-6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NKX2-6","entity_type":"gene"},{"created":"2021-12-20T18:10:37.752976+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1555","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NKX2-6 were set to 24421281; 15649947","entity_name":"NKX2-6","entity_type":"gene"},{"created":"2021-12-20T18:10:24.854235+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1554","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NKX2-6 as Green List (high evidence)","entity_name":"NKX2-6","entity_type":"gene"},{"created":"2021-12-20T18:10:24.833991+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1554","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nkx2-6 has been classified as Green List (High Evidence).","entity_name":"NKX2-6","entity_type":"gene"},{"created":"2021-12-20T18:10:12.544568+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1553","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"NKX2-6","entity_type":"gene"},{"created":"2021-12-20T18:10:08.442345+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1553","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NKX2-6: Changed rating: GREEN","entity_name":"NKX2-6","entity_type":"gene"},{"created":"2021-12-20T18:09:14.268335+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1553","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: WNT10B were set to ","entity_name":"WNT10B","entity_type":"gene"},{"created":"2021-12-20T18:08:23.484685+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10324","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WNT10B were changed from  to Split-hand/foot malformation 6, OMIM #601906; Tooth agenesis, selective, 8, OMIM #617073","entity_name":"WNT10B","entity_type":"gene"},{"created":"2021-12-20T18:08:04.132451+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10323","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: WNT10B were set to ","entity_name":"WNT10B","entity_type":"gene"},{"created":"2021-12-20T18:07:45.438399+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10322","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: WNT10B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"WNT10B","entity_type":"gene"},{"created":"2021-12-20T18:06:54.306303+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10321","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: CITED2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33706167, 33439552, 31515672, 29536580; Phenotypes: Atrial septal defect 8 - MIM#614433, Ventricular septal defect 2 - MIM#614431; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CITED2","entity_type":"gene"},{"created":"2021-12-20T18:06:43.262325+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1552","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WRAP53 were changed from DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 to Dyskeratosis congenita, autosomal recessive 3, OMIM #613988","entity_name":"WRAP53","entity_type":"gene"},{"created":"2021-12-20T18:06:31.654229+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1551","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: WRAP53 were set to ","entity_name":"WRAP53","entity_type":"gene"},{"created":"2021-12-20T18:05:43.902525+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1550","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: YY1 were set to ","entity_name":"YY1","entity_type":"gene"},{"created":"2021-12-20T18:05:08.003737+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4384","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: YY1: Changed publications: 28575647","entity_name":"YY1","entity_type":"gene"},{"created":"2021-12-20T18:04:39.590879+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4384","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: YY1 as ready","entity_name":"YY1","entity_type":"gene"},{"created":"2021-12-20T18:04:39.581037+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4384","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: yy1 has been classified as Green List (High Evidence).","entity_name":"YY1","entity_type":"gene"},{"created":"2021-12-20T18:04:34.880414+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4384","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: YY1 were changed from  to Gabriele-de Vries syndrome, OMIM #617557","entity_name":"YY1","entity_type":"gene"},{"created":"2021-12-20T18:04:02.432809+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4383","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: YY1 were set to ","entity_name":"YY1","entity_type":"gene"},{"created":"2021-12-20T18:03:26.075775+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4382","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: YY1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"YY1","entity_type":"gene"},{"created":"2021-12-20T18:02:52.060815+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4381","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: YY1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Gabriele-de Vries syndrome, OMIM #617557; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"YY1","entity_type":"gene"},{"created":"2021-12-20T18:02:10.109159+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10321","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: YY1 as ready","entity_name":"YY1","entity_type":"gene"},{"created":"2021-12-20T18:02:10.098349+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10321","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: yy1 has been classified as Green List (High Evidence).","entity_name":"YY1","entity_type":"gene"},{"created":"2021-12-20T18:02:02.983638+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10321","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: YY1 were changed from  to Gabriele-de Vries syndrome, OMIM #617557","entity_name":"YY1","entity_type":"gene"},{"created":"2021-12-20T18:01:44.157988+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10320","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: YY1 were set to ","entity_name":"YY1","entity_type":"gene"},{"created":"2021-12-20T18:01:19.177868+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10319","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: YY1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"YY1","entity_type":"gene"},{"created":"2021-12-20T18:00:24.475784+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1549","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GM2A as ready","entity_name":"GM2A","entity_type":"gene"},{"created":"2021-12-20T18:00:24.466894+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1549","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gm2a has been classified as Amber List (Moderate Evidence).","entity_name":"GM2A","entity_type":"gene"},{"created":"2021-12-20T18:00:19.519362+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10318","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NKX2-6: Rating: GREEN; Mode of pathogenicity: None; Publications: 24421281, 15649947, 32198970, 25380965, 25319568; Phenotypes: Conotruncal heart malformations - MIM#217095, Persistent truncus arteriosus - MIM#217095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NKX2-6","entity_type":"gene"},{"created":"2021-12-20T18:00:07.843539+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1549","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GM2A were changed from GM2-GANGLIOSIDOSIS TYPE AB to GM2-gangliosidosis, AB variant MIM#272750","entity_name":"GM2A","entity_type":"gene"},{"created":"2021-12-20T17:59:54.269641+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1548","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GM2A were set to ","entity_name":"GM2A","entity_type":"gene"},{"created":"2021-12-20T17:59:37.312679+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1547","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GM2A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: GM2-gangliosidosis, AB variant MIM#272750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GM2A","entity_type":"gene"},{"created":"2021-12-20T17:57:59.827936+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10318","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GM2A as ready","entity_name":"GM2A","entity_type":"gene"},{"created":"2021-12-20T17:57:59.816560+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10318","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gm2a has been classified as Green List (High Evidence).","entity_name":"GM2A","entity_type":"gene"},{"created":"2021-12-20T17:57:51.905171+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10318","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GM2A were changed from  to GM2-gangliosidosis, AB variant MIM#272750","entity_name":"GM2A","entity_type":"gene"},{"created":"2021-12-20T17:57:32.154041+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10317","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GM2A were set to ","entity_name":"GM2A","entity_type":"gene"},{"created":"2021-12-20T17:56:39.577640+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10316","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GM2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GM2A","entity_type":"gene"},{"created":"2021-12-20T17:55:54.218151+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1547","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: VPS53 as ready","entity_name":"VPS53","entity_type":"gene"},{"created":"2021-12-20T17:55:54.207299+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1547","user_name":"Alison Yeung","item_type":"entity","text":"Gene: vps53 has been classified as Green List (High Evidence).","entity_name":"VPS53","entity_type":"gene"},{"created":"2021-12-20T17:55:35.639908+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10315","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GFRA1 were set to 33020172","entity_name":"GFRA1","entity_type":"gene"},{"created":"2021-12-20T17:55:05.458780+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1547","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: VPS53: Rating: GREEN; Mode of pathogenicity: None; Publications: 24577744, 12920088; Phenotypes: Pontocerebellar hypoplasia, type 2E, OMIM #615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"VPS53","entity_type":"gene"},{"created":"2021-12-20T17:54:56.607290+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10314","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GFRA1 as Green List (high evidence)","entity_name":"GFRA1","entity_type":"gene"},{"created":"2021-12-20T17:54:56.597701+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10314","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gfra1 has been classified as Green List (High Evidence).","entity_name":"GFRA1","entity_type":"gene"},{"created":"2021-12-20T17:54:36.504999+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10313","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GFRA1: Changed rating: GREEN; Changed publications: 33020172, 34737117","entity_name":"GFRA1","entity_type":"gene"},{"created":"2021-12-20T17:54:09.732403+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1547","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GANAB as ready","entity_name":"GANAB","entity_type":"gene"},{"created":"2021-12-20T17:54:09.722069+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1547","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ganab has been classified as Red List (Low Evidence).","entity_name":"GANAB","entity_type":"gene"},{"created":"2021-12-20T17:54:06.438142+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.165","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NKX2-6: Rating: GREEN; Mode of pathogenicity: None; Publications: 24421281, 15649947, 32198970, 25380965, 25319568; Phenotypes: Conotruncal heart malformations - MIM#217095, Persistent truncus arteriosus - MIM#217095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NKX2-6","entity_type":"gene"},{"created":"2021-12-20T17:52:00.698318+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10313","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: VPS53 as ready","entity_name":"VPS53","entity_type":"gene"},{"created":"2021-12-20T17:52:00.684541+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10313","user_name":"Alison Yeung","item_type":"entity","text":"Gene: vps53 has been classified as Green List (High Evidence).","entity_name":"VPS53","entity_type":"gene"},{"created":"2021-12-20T17:51:54.306263+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1547","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GFRA1 as ready","entity_name":"GFRA1","entity_type":"gene"},{"created":"2021-12-20T17:51:54.296565+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1547","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gfra1 has been classified as Green List (High Evidence).","entity_name":"GFRA1","entity_type":"gene"},{"created":"2021-12-20T17:51:49.680319+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1547","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GFRA1 were set to 33020172","entity_name":"GFRA1","entity_type":"gene"},{"created":"2021-12-20T17:51:27.322549+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10313","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: VPS53: Rating: GREEN; Mode of pathogenicity: None; Publications: 24577744, 12920088; Phenotypes: Pontocerebellar hypoplasia, type 2E, OMIM #615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"VPS53","entity_type":"gene"},{"created":"2021-12-20T17:51:23.148443+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1546","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GFRA1 as Green List (high evidence)","entity_name":"GFRA1","entity_type":"gene"},{"created":"2021-12-20T17:51:23.137655+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1546","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gfra1 has been classified as Green List (High Evidence).","entity_name":"GFRA1","entity_type":"gene"},{"created":"2021-12-20T17:50:45.609010+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1545","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GATA3 as ready","entity_name":"GATA3","entity_type":"gene"},{"created":"2021-12-20T17:50:45.599302+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1545","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gata3 has been classified as Green List (High Evidence).","entity_name":"GATA3","entity_type":"gene"},{"created":"2021-12-20T17:50:39.930044+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1545","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GATA3 were set to ","entity_name":"GATA3","entity_type":"gene"},{"created":"2021-12-20T17:50:25.393901+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1544","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GATA3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GATA3","entity_type":"gene"},{"created":"2021-12-20T17:50:13.062490+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1543","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GATA3 as Green List (high evidence)","entity_name":"GATA3","entity_type":"gene"},{"created":"2021-12-20T17:50:13.041825+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1543","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gata3 has been classified as Green List (High Evidence).","entity_name":"GATA3","entity_type":"gene"},{"created":"2021-12-20T17:49:22.663313+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1542","user_name":"Krithika Murali","item_type":"entity","text":"edited their review of gene: NKX2-6: Added comment: Review updated - 3 unrelated families now reported\r\n\r\nPMID 15649947 (Heathcote et al 2005) - first reported  biallelic variants NKX2-6 associated with type 1 truncus arteriosis in a large consanguineous family previously described by (Abushaban et al 2003 - 12574981) \r\n\r\nPMID 24421281 (Ta-Shma et al 2014) Subsequently reported, another consanguineous family with conotruncal defects (including VSD and TA) and homozygous nonsense NKX2-6 variants.  One individual from that family was\r\nalso noted to have athymia\r\n\r\nPMID 32198970 (Ritter et al 2019) - Reported compound het variants in x2 siblings with truncus arteriosus (2nd sibling diagnosed antenatally) from non-consanguineous family \r\n\r\nAdditional studies of NKX2-6 identified a\r\n-  heterozygous missense variant c.472A > C (p.Lys158Gln) that segregated with VSD (PMID 25380965 Wang et al 2015)\r\n- heterozygous missense variant c.525G > C (p.Gln175His) that segregated in a family with atrial fibrillation (PMID 25319568 Wang et al 2014)\r\n\r\nIncluded in PanelApp as biallelic inheritance but possibility of less severe phenotype with monoallelic inheritance possible - but one reported family only.; Changed publications: 24421281, 15649947, 32198970, 25380965, 25319568","entity_name":"NKX2-6","entity_type":"gene"},{"created":"2021-12-20T17:48:48.190135+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1542","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GLI1 as ready","entity_name":"GLI1","entity_type":"gene"},{"created":"2021-12-20T17:48:48.178269+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1542","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gli1 has been classified as Green List (High Evidence).","entity_name":"GLI1","entity_type":"gene"},{"created":"2021-12-20T17:48:42.744174+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1542","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GLI1 were set to ","entity_name":"GLI1","entity_type":"gene"},{"created":"2021-12-20T17:48:28.075384+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1541","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GLI1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GLI1","entity_type":"gene"},{"created":"2021-12-20T17:48:15.453637+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1540","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GLI1 as Green List (high evidence)","entity_name":"GLI1","entity_type":"gene"},{"created":"2021-12-20T17:48:15.442901+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1540","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gli1 has been classified as Green List (High Evidence).","entity_name":"GLI1","entity_type":"gene"},{"created":"2021-12-20T17:46:54.077499+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.244","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GLI1 as ready","entity_name":"GLI1","entity_type":"gene"},{"created":"2021-12-20T17:46:54.066473+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.244","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gli1 has been classified as Green List (High Evidence).","entity_name":"GLI1","entity_type":"gene"},{"created":"2021-12-20T17:45:36.894976+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.244","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GLI1 as Green List (high evidence)","entity_name":"GLI1","entity_type":"gene"},{"created":"2021-12-20T17:45:36.885690+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.244","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gli1 has been classified as Green List (High Evidence).","entity_name":"GLI1","entity_type":"gene"},{"created":"2021-12-20T17:42:31.939396+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10313","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GLI1 as ready","entity_name":"GLI1","entity_type":"gene"},{"created":"2021-12-20T17:42:31.929623+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10313","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gli1 has been classified as Green List (High Evidence).","entity_name":"GLI1","entity_type":"gene"},{"created":"2021-12-20T17:42:21.296587+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10313","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GLI1 as Green List (high evidence)","entity_name":"GLI1","entity_type":"gene"},{"created":"2021-12-20T17:42:21.285821+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10313","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gli1 has been classified as Green List (High Evidence).","entity_name":"GLI1","entity_type":"gene"}]}