{"count":220482,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=967","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=965","results":[{"created":"2022-02-25T15:09:35.803422+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4229","user_name":"Alison Yeung","item_type":"entity","text":"changed review comment from: Associated with OAV spectrum / hemifacial microsomia; to: Reported in patients with OAV spectrum / hemifacial microsomia","entity_name":"MYT1","entity_type":"gene"},{"created":"2022-02-25T15:09:05.102422+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4229","user_name":"Alison Yeung","item_type":"entity","text":"reviewed gene: MYT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28612832, 32871052, 27358179; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MYT1","entity_type":"gene"},{"created":"2022-02-25T15:04:03.941211+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4229","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: MYRF as ready","entity_name":"MYRF","entity_type":"gene"},{"created":"2022-02-25T15:04:03.931870+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4229","user_name":"Alison Yeung","item_type":"entity","text":"Gene: myrf has been classified as Green List (High Evidence).","entity_name":"MYRF","entity_type":"gene"},{"created":"2022-02-25T15:03:52.749510+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4229","user_name":"Alison Yeung","item_type":"entity","text":"Phenotypes for gene: MYRF were changed from Congenital diaphragmatic hernia (CDH); Cardiac-urogenital syndrome, 618280; Disorders of sex development (DSD) to Cardiac-urogenital syndrome, MIM# 618280","entity_name":"MYRF","entity_type":"gene"},{"created":"2022-02-25T15:03:24.230877+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4228","user_name":"Alison Yeung","item_type":"entity","text":"Mode of inheritance for gene: MYRF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MYRF","entity_type":"gene"},{"created":"2022-02-25T15:00:48.744077+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4227","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SNRPB as ready","entity_name":"SNRPB","entity_type":"gene"},{"created":"2022-02-25T15:00:48.730243+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4227","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snrpb has been classified as Green List (High Evidence).","entity_name":"SNRPB","entity_type":"gene"},{"created":"2022-02-25T15:00:44.257191+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4227","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SNRPB were changed from CEREBRO-COSTO-MANDIBULAR SYNDROME to Cerebrocostomandibular syndrome, MIM# 117650","entity_name":"SNRPB","entity_type":"gene"},{"created":"2022-02-25T15:00:26.462393+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4226","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SNRPB were set to ","entity_name":"SNRPB","entity_type":"gene"},{"created":"2022-02-25T15:00:11.416393+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4225","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SNRPB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SNRPB","entity_type":"gene"},{"created":"2022-02-25T14:58:41.701968+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4224","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SON as ready","entity_name":"SON","entity_type":"gene"},{"created":"2022-02-25T14:58:41.691008+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4224","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: son has been classified as Green List (High Evidence).","entity_name":"SON","entity_type":"gene"},{"created":"2022-02-25T14:58:37.768944+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4224","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SON were changed from Intellectual Disability, Congenital Malformations, and Failure to Thrive to ZTTK syndrome, MIM# 617140","entity_name":"SON","entity_type":"gene"},{"created":"2022-02-25T14:58:21.828595+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4223","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SON were set to ","entity_name":"SON","entity_type":"gene"},{"created":"2022-02-25T14:58:08.484337+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4222","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SON was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SON","entity_type":"gene"},{"created":"2022-02-25T14:57:36.720751+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4221","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SOS1 as ready","entity_name":"SOS1","entity_type":"gene"},{"created":"2022-02-25T14:57:36.709366+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4221","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sos1 has been classified as Green List (High Evidence).","entity_name":"SOS1","entity_type":"gene"},{"created":"2022-02-25T14:57:31.738241+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4221","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SOS1 were changed from NOONAN SYNDROME 4 to Noonan syndrome 4, MIM# 610733","entity_name":"SOS1","entity_type":"gene"},{"created":"2022-02-25T14:57:18.748540+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4220","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SOS1 were set to ","entity_name":"SOS1","entity_type":"gene"},{"created":"2022-02-25T14:57:04.929880+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4219","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: SOS1 was changed from  to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","entity_name":"SOS1","entity_type":"gene"},{"created":"2022-02-25T14:56:54.456730+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4218","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SOS1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SOS1","entity_type":"gene"},{"created":"2022-02-25T14:56:26.952962+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4217","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SOS2 as ready","entity_name":"SOS2","entity_type":"gene"},{"created":"2022-02-25T14:56:26.940879+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4217","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sos2 has been classified as Green List (High Evidence).","entity_name":"SOS2","entity_type":"gene"},{"created":"2022-02-25T10:04:39.625944+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.7","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: PPCS: Rating: ; Mode of pathogenicity: None; Publications: 29754768; Phenotypes: Cardiomyopathy, dilated, 2C, MIM# 618189; Mode of inheritance: None","entity_name":"PPCS","entity_type":"gene"},{"created":"2022-02-25T09:29:10.812845+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4216","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATN1 as ready","entity_name":"ATN1","entity_type":"gene"},{"created":"2022-02-25T09:29:10.800957+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4216","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atn1 has been classified as Green List (High Evidence).","entity_name":"ATN1","entity_type":"gene"},{"created":"2022-02-25T09:27:13.340079+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4216","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATN1 as Green List (high evidence)","entity_name":"ATN1","entity_type":"gene"},{"created":"2022-02-25T09:27:13.324060+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4216","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atn1 has been classified as Green List (High Evidence).","entity_name":"ATN1","entity_type":"gene"},{"created":"2022-02-25T09:26:44.445429+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4215","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NFIA as ready","entity_name":"NFIA","entity_type":"gene"},{"created":"2022-02-25T09:26:44.434186+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4215","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nfia has been classified as Green List (High Evidence).","entity_name":"NFIA","entity_type":"gene"},{"created":"2022-02-25T09:24:56.521165+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4215","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NFIA as Green List (high evidence)","entity_name":"NFIA","entity_type":"gene"},{"created":"2022-02-25T09:24:56.509736+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4215","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nfia has been classified as Green List (High Evidence).","entity_name":"NFIA","entity_type":"gene"},{"created":"2022-02-25T09:23:36.463953+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4214","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PACS2 as ready","entity_name":"PACS2","entity_type":"gene"},{"created":"2022-02-25T09:23:36.452009+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4214","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pacs2 has been classified as Green List (High Evidence).","entity_name":"PACS2","entity_type":"gene"},{"created":"2022-02-25T09:23:26.321989+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4214","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PACS2 as Green List (high evidence)","entity_name":"PACS2","entity_type":"gene"},{"created":"2022-02-25T09:23:26.312475+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4214","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pacs2 has been classified as Green List (High Evidence).","entity_name":"PACS2","entity_type":"gene"},{"created":"2022-02-25T09:23:02.215017+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4213","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PPP2CA as ready","entity_name":"PPP2CA","entity_type":"gene"},{"created":"2022-02-25T09:23:02.198845+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4213","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppp2ca has been classified as Green List (High Evidence).","entity_name":"PPP2CA","entity_type":"gene"},{"created":"2022-02-25T09:22:52.831227+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4213","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PPP2CA as Green List (high evidence)","entity_name":"PPP2CA","entity_type":"gene"},{"created":"2022-02-25T09:22:52.822235+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4213","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppp2ca has been classified as Green List (High Evidence).","entity_name":"PPP2CA","entity_type":"gene"},{"created":"2022-02-25T09:20:32.826918+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4212","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZMIZ1 as ready","entity_name":"ZMIZ1","entity_type":"gene"},{"created":"2022-02-25T09:20:32.815168+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4212","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zmiz1 has been classified as Green List (High Evidence).","entity_name":"ZMIZ1","entity_type":"gene"},{"created":"2022-02-25T09:20:27.024740+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4212","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZMIZ1 as Green List (high evidence)","entity_name":"ZMIZ1","entity_type":"gene"},{"created":"2022-02-25T09:20:27.010307+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4212","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zmiz1 has been classified as Green List (High Evidence).","entity_name":"ZMIZ1","entity_type":"gene"},{"created":"2022-02-25T09:19:43.909252+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4211","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SEMA3E as ready","entity_name":"SEMA3E","entity_type":"gene"},{"created":"2022-02-25T09:19:43.899332+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4211","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sema3e has been classified as Amber List (Moderate Evidence).","entity_name":"SEMA3E","entity_type":"gene"},{"created":"2022-02-25T09:19:40.039488+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4211","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SEMA3E were changed from ?CHARGE syndrome  - MIM#214800 to CHARGE syndrome  - MIM#214800","entity_name":"SEMA3E","entity_type":"gene"},{"created":"2022-02-25T09:19:28.394023+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4210","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SEMA3E as Amber List (moderate evidence)","entity_name":"SEMA3E","entity_type":"gene"},{"created":"2022-02-25T09:19:28.380997+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4210","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sema3e has been classified as Amber List (Moderate Evidence).","entity_name":"SEMA3E","entity_type":"gene"},{"created":"2022-02-25T09:18:51.708153+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4209","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM53 as ready","entity_name":"TMEM53","entity_type":"gene"},{"created":"2022-02-25T09:18:51.698037+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4209","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem53 has been classified as Red List (Low Evidence).","entity_name":"TMEM53","entity_type":"gene"},{"created":"2022-02-25T09:18:45.839601+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4209","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMEM53 as Red List (low evidence)","entity_name":"TMEM53","entity_type":"gene"},{"created":"2022-02-25T09:18:45.827953+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4209","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem53 has been classified as Red List (Low Evidence).","entity_name":"TMEM53","entity_type":"gene"},{"created":"2022-02-25T09:18:09.463664+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4208","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SGMS2 as ready","entity_name":"SGMS2","entity_type":"gene"},{"created":"2022-02-25T09:18:09.452612+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4208","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sgms2 has been classified as Red List (Low Evidence).","entity_name":"SGMS2","entity_type":"gene"},{"created":"2022-02-25T09:18:01.797686+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4208","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SGMS2 as Red List (low evidence)","entity_name":"SGMS2","entity_type":"gene"},{"created":"2022-02-25T09:18:01.787824+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4208","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sgms2 has been classified as Red List (Low Evidence).","entity_name":"SGMS2","entity_type":"gene"},{"created":"2022-02-25T09:12:04.864940+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4207","user_name":"Krithika Murali","item_type":"entity","text":"gene: ZMIZ1 was added\ngene: ZMIZ1 was added to Fetal anomalies. Sources: Literature,Expert list\nMode of inheritance for gene: ZMIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZMIZ1 were set to 30639322; 31879022\nPhenotypes for gene: ZMIZ1 were set to Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies - MIM#618659\nReview for gene: ZMIZ1 was set to GREEN\nAdded comment: Syndromic ID associated with multiple congenital malformations \nSources: Literature, Expert list","entity_name":"ZMIZ1","entity_type":"gene"},{"created":"2022-02-25T09:08:32.146019+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4207","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UBA2 as ready","entity_name":"UBA2","entity_type":"gene"},{"created":"2022-02-25T09:08:32.133405+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4207","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: uba2 has been classified as Green List (High Evidence).","entity_name":"UBA2","entity_type":"gene"},{"created":"2022-02-25T09:07:53.154179+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4207","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCNN1B as ready","entity_name":"SCNN1B","entity_type":"gene"},{"created":"2022-02-25T09:07:53.133295+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4207","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scnn1b has been classified as Green List (High Evidence).","entity_name":"SCNN1B","entity_type":"gene"},{"created":"2022-02-25T09:07:24.386503+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4207","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCNN1A as ready","entity_name":"SCNN1A","entity_type":"gene"},{"created":"2022-02-25T09:07:24.377583+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4207","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scnn1a has been classified as Green List (High Evidence).","entity_name":"SCNN1A","entity_type":"gene"},{"created":"2022-02-25T09:06:13.172994+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4207","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAM16 as ready","entity_name":"PAM16","entity_type":"gene"},{"created":"2022-02-25T09:06:13.161546+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4207","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pam16 has been classified as Green List (High Evidence).","entity_name":"PAM16","entity_type":"gene"},{"created":"2022-02-25T09:05:30.627770+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4207","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NME8 as ready","entity_name":"NME8","entity_type":"gene"},{"created":"2022-02-25T09:05:30.616892+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4207","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nme8 has been classified as Green List (High Evidence).","entity_name":"NME8","entity_type":"gene"},{"created":"2022-02-25T09:05:26.778461+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4207","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NME8 were set to PubMed: 12032915, 12483741, 12928894","entity_name":"NME8","entity_type":"gene"},{"created":"2022-02-25T09:04:40.381782+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4206","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MIA3 as ready","entity_name":"MIA3","entity_type":"gene"},{"created":"2022-02-25T09:04:40.371741+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4206","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mia3 has been classified as Amber List (Moderate Evidence).","entity_name":"MIA3","entity_type":"gene"},{"created":"2022-02-25T09:04:35.758103+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4206","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MIA3 were set to PMID: 32101163, 33778321","entity_name":"MIA3","entity_type":"gene"},{"created":"2022-02-25T09:03:47.483476+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4205","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MBTPS1 as ready","entity_name":"MBTPS1","entity_type":"gene"},{"created":"2022-02-25T09:03:47.473129+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4205","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mbtps1 has been classified as Green List (High Evidence).","entity_name":"MBTPS1","entity_type":"gene"},{"created":"2022-02-25T08:59:35.967501+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4205","user_name":"Krithika Murali","item_type":"entity","text":"gene: PPP2CA was added\ngene: PPP2CA was added to Fetal anomalies. Sources: Literature,Expert list\nMode of inheritance for gene: PPP2CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PPP2CA were set to 30595372\nPhenotypes for gene: PPP2CA were set to Neurodevelopmental disorder and language delay with or without structural brain abnormalities - MIM#618354\nReview for gene: PPP2CA was set to GREEN\nAdded comment: Syndromic ID associated with congenital brain and heart anomalies. \nSources: Literature, Expert list","entity_name":"PPP2CA","entity_type":"gene"},{"created":"2022-02-25T08:56:10.716080+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4205","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HOXA11 as ready","entity_name":"HOXA11","entity_type":"gene"},{"created":"2022-02-25T08:56:10.706588+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4205","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hoxa11 has been classified as Amber List (Moderate Evidence).","entity_name":"HOXA11","entity_type":"gene"},{"created":"2022-02-25T08:55:01.014472+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4205","user_name":"Krithika Murali","item_type":"entity","text":"gene: PACS2 was added\ngene: PACS2 was added to Fetal anomalies. Sources: Literature,Expert list\nMode of inheritance for gene: PACS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PACS2 were set to 34894068; 34859793\nPhenotypes for gene: PACS2 were set to Developmental and epileptic encephalopathy 66 - MIM#618067\nReview for gene: PACS2 was set to GREEN\nAdded comment: Associated with syndromic ID/infantile onset epileptic encephalopathy. Phenotypic features include brain and cardiac malformations. \nSources: Literature, Expert list","entity_name":"PACS2","entity_type":"gene"},{"created":"2022-02-25T08:54:28.968428+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4205","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: The variants originally reported are present at a high frequency in gnomad which is not consistent with a rare Mendelian disorder.; to: The variants originally reported are present at a high frequency in gnomad which is not consistent with a rare Mendelian disorder. Some individuals had skeletal features.\r\n\r\nMore recent publication PMID 29260090: variant inherited from phenotypically normal parent, leading authors to speculate about reduced penetrance.","entity_name":"GDF3","entity_type":"gene"},{"created":"2022-02-25T08:53:17.000279+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4205","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GDF3: Changed publications: 29260090; Changed phenotypes: Klippel-Feil syndrome 3, autosomal dominant 613702","entity_name":"GDF3","entity_type":"gene"},{"created":"2022-02-25T08:49:03.420843+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4205","user_name":"Krithika Murali","item_type":"entity","text":"gene: NFIA was added\ngene: NFIA was added to Fetal anomalies. Sources: Literature,Expert list\nMode of inheritance for gene: NFIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NFIA were set to 35018717; 33973697; 32926563\nPhenotypes for gene: NFIA were set to Brain malformations with or without urinary tract defects - MIM#613735\nReview for gene: NFIA was set to GREEN\nAdded comment: Haploinsufficiency of the NFIA gene causes NFIA-related disorder, which includes brain abnormalities and intellectual disability, with or without urinary tract defects. \nSources: Literature, Expert list","entity_name":"NFIA","entity_type":"gene"},{"created":"2022-02-25T08:48:49.841029+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4205","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GDF3 as Red List (low evidence)","entity_name":"GDF3","entity_type":"gene"},{"created":"2022-02-25T08:48:49.831492+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4205","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gdf3 has been classified as Red List (Low Evidence).","entity_name":"GDF3","entity_type":"gene"},{"created":"2022-02-25T08:48:36.421325+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4204","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GDF3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"GDF3","entity_type":"gene"},{"created":"2022-02-25T08:48:13.785694+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GDF3 as Red List (low evidence)","entity_name":"GDF3","entity_type":"gene"},{"created":"2022-02-25T08:48:13.774039+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gdf3 has been classified as Red List (Low Evidence).","entity_name":"GDF3","entity_type":"gene"},{"created":"2022-02-25T08:47:44.604228+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Please note the variants originally reported are present at a high frequency in gnomad which is not consistent with a rare Mendelian disorder.; to: The variants originally reported are present at a high frequency in gnomad which is not consistent with a rare Mendelian disorder.","entity_name":"GDF3","entity_type":"gene"},{"created":"2022-02-25T08:47:34.426971+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GDF3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"GDF3","entity_type":"gene"},{"created":"2022-02-25T08:46:39.015228+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GDF3 as ready","entity_name":"GDF3","entity_type":"gene"},{"created":"2022-02-25T08:46:39.002738+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gdf3 has been classified as Green List (High Evidence).","entity_name":"GDF3","entity_type":"gene"},{"created":"2022-02-25T08:45:53.216674+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4204","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GDF3 as ready","entity_name":"GDF3","entity_type":"gene"},{"created":"2022-02-25T08:45:53.205755+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4204","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gdf3 has been classified as Green List (High Evidence).","entity_name":"GDF3","entity_type":"gene"},{"created":"2022-02-25T08:45:25.703954+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4204","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL27A1 as ready","entity_name":"COL27A1","entity_type":"gene"},{"created":"2022-02-25T08:45:25.690049+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4204","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col27a1 has been classified as Green List (High Evidence).","entity_name":"COL27A1","entity_type":"gene"},{"created":"2022-02-25T08:44:53.964628+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4204","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHST11 as ready","entity_name":"CHST11","entity_type":"gene"},{"created":"2022-02-25T08:44:53.948213+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4204","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chst11 has been classified as Amber List (Moderate Evidence).","entity_name":"CHST11","entity_type":"gene"},{"created":"2022-02-25T08:44:04.084114+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4204","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRDM15 as ready","entity_name":"PRDM15","entity_type":"gene"},{"created":"2022-02-25T08:44:04.073852+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4204","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prdm15 has been classified as Amber List (Moderate Evidence).","entity_name":"PRDM15","entity_type":"gene"},{"created":"2022-02-25T08:43:36.314738+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.4204","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NODAL as ready","entity_name":"NODAL","entity_type":"gene"}]}