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{
"count": 220482,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=967",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&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"
}
]
}