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{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1433",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1431",
"results": [
{
"created": "2021-01-29T21:50:41.476095+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MMAA was added\ngene: MMAA was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMAA were set to 15523652; 12438653\nPhenotypes for gene: MMAA were set to Methylmalonic aciduria, vitamin B12-responsive 251100",
"entity_name": "MMAA",
"entity_type": "gene"
},
{
"created": "2021-01-29T21:50:41.425752+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MLYCD was added\ngene: MLYCD was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MLYCD were set to 10455107; 10417274; 12955715\nPhenotypes for gene: MLYCD were set to Malonyl-CoA decarboxylase deficiency\t248360; malonic aciduria",
"entity_name": "MLYCD",
"entity_type": "gene"
},
{
"created": "2021-01-29T21:50:41.378555+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IVD was added\ngene: IVD was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IVD were set to 23063737; 26018748; 24019846; 23587913\nPhenotypes for gene: IVD were set to Isovaleric acidemia\t243500",
"entity_name": "IVD",
"entity_type": "gene"
},
{
"created": "2021-01-29T21:50:41.330538+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HMGCL was added\ngene: HMGCL was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2021-01-29T21:50:41.281854+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HLCS was added\ngene: HLCS was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HLCS were set to Holocarboxylase synthetase deficiency\t253270",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2021-01-29T21:50:41.233987+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HADHB was added\ngene: HADHB was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HADHB were set to Trifunctional protein deficiency 609015",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2021-01-29T21:50:41.180361+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HADHA was added\ngene: HADHA was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HADHA were set to Trifunctional protein deficiency 609015",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2021-01-29T21:50:41.127029+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLUD1 was added\ngene: GLUD1 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GLUD1 were set to 11214910; 10636977\nPhenotypes for gene: GLUD1 were set to Hyperinsulinism-hyperammonemia syndrome, 606762",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2021-01-29T21:50:41.075404+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ETFDH was added\ngene: ETFDH was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ETFDH were set to Glutaric acidemia IIC\t231680",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2021-01-29T21:50:41.028961+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ETFB was added\ngene: ETFB was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ETFB were set to 27081516\nPhenotypes for gene: ETFB were set to Glutaric acidemia IIB\t231680",
"entity_name": "ETFB",
"entity_type": "gene"
},
{
"created": "2021-01-29T21:50:40.980712+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ETFA was added\ngene: ETFA was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ETFA were set to Glutaric acidemia IIA\t231680",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2021-01-29T21:50:40.924563+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DBT was added\ngene: DBT was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DBT were set to Maple syrup urine disease, type II\t248600",
"entity_name": "DBT",
"entity_type": "gene"
},
{
"created": "2021-01-29T21:50:40.874810+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CPT2 was added\ngene: CPT2 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CPT2 were set to CPT deficiency, hepatic, type II 600649; CPT II deficiency, lethal neonatal 608836",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2021-01-29T21:50:40.810563+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CPT1A was added\ngene: CPT1A was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CPT1A were set to CPT deficiency, hepatic, type IA\t255120",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2021-01-29T21:50:40.742457+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CPS1 was added\ngene: CPS1 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency\t237300",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2021-01-29T21:50:40.695727+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CA5A was added\ngene: CA5A was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CA5A were set to 24530203\nPhenotypes for gene: CA5A were set to Hyperammonemia due to carbonic anhydrase VA deficiency\t615751",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2021-01-29T21:50:40.648548+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BCKDHB was added\ngene: BCKDHB was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCKDHB were set to Maple syrup urine disease, type Ib\t248600",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2021-01-29T21:50:40.602278+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BCKDHA was added\ngene: BCKDHA was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCKDHA were set to Maple syrup urine disease, type Ia\t248600",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2021-01-29T21:50:40.553719+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AUH was added\ngene: AUH was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I\t250950",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2021-01-29T21:50:40.506681+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASS1 was added\ngene: ASS1 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASS1 were set to 2358466\nPhenotypes for gene: ASS1 were set to Citrullinemia\t215700",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2021-01-29T21:50:40.456012+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASL was added\ngene: ASL was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASL were set to 2263616; 12408190\nPhenotypes for gene: ASL were set to Argininosuccinic aciduria\t207900",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2021-01-29T21:50:40.407745+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARG1 was added\ngene: ARG1 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ARG1 were set to Argininemia 207800",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2021-01-29T21:50:40.357933+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALDH18A1 was added\ngene: ALDH18A1 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: ALDH18A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALDH18A1 were set to 24767728; 11092761\nPhenotypes for gene: ALDH18A1 were set to Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2021-01-29T21:50:40.309232+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACADVL was added\ngene: ACADVL was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACADVL were set to VLCAD deficiency\t201475",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2021-01-29T21:50:40.258846+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACADM was added\ngene: ACADM was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of\t201450",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2021-01-29T21:50:40.226725+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added panel Hyperammonaemia",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-01-29T18:20:30.503134+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:UBB from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-01-29T18:05:42.339105+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:GYPE from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-01-29T18:02:33.729079+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.31",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PGM1 as Green List (high evidence)",
"entity_name": "PGM1",
"entity_type": "gene"
},
{
"created": "2021-01-29T18:02:33.721067+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.31",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pgm1 has been classified as Green List (High Evidence).",
"entity_name": "PGM1",
"entity_type": "gene"
},
{
"created": "2021-01-29T17:58:23.172000+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLX4 as ready",
"entity_name": "DLX4",
"entity_type": "gene"
},
{
"created": "2021-01-29T17:58:23.161203+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dlx4 has been classified as Red List (Low Evidence).",
"entity_name": "DLX4",
"entity_type": "gene"
},
{
"created": "2021-01-29T17:58:20.119494+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DLX4 were changed from nonsyndromic cleft/lip palate (CL/P); OFC15; OROFACIAL CLEFT 15; ?Orofacial cleft 15, 616788 to Orofacial cleft 15, MIM# 616788",
"entity_name": "DLX4",
"entity_type": "gene"
},
{
"created": "2021-01-29T17:58:09.157483+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DLX4 were set to 25954033",
"entity_name": "DLX4",
"entity_type": "gene"
},
{
"created": "2021-01-29T17:55:32.645621+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DLX4 as Red List (low evidence)",
"entity_name": "DLX4",
"entity_type": "gene"
},
{
"created": "2021-01-29T17:55:32.636251+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dlx4 has been classified as Red List (Low Evidence).",
"entity_name": "DLX4",
"entity_type": "gene"
},
{
"created": "2021-01-29T17:55:23.766054+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DLX4: Rating: RED; Mode of pathogenicity: None; Publications: 25954033, 29738288; Phenotypes: Orofacial cleft 15, MIM# 616788; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DLX4",
"entity_type": "gene"
},
{
"created": "2021-01-29T17:54:52.045291+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLX4 as ready",
"entity_name": "DLX4",
"entity_type": "gene"
},
{
"created": "2021-01-29T17:54:52.030465+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dlx4 has been classified as Red List (Low Evidence).",
"entity_name": "DLX4",
"entity_type": "gene"
},
{
"created": "2021-01-29T17:54:33.658595+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLX4 was added\ngene: DLX4 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: DLX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DLX4 were set to 25954033; 29738288\nPhenotypes for gene: DLX4 were set to Orofacial cleft 15, MIM#\t616788\nReview for gene: DLX4 was set to RED\nAdded comment: Single family reported and a SNP association study. \nSources: Expert list",
"entity_name": "DLX4",
"entity_type": "gene"
},
{
"created": "2021-01-29T17:51:08.200297+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLG1 as ready",
"entity_name": "DLG1",
"entity_type": "gene"
},
{
"created": "2021-01-29T17:51:08.192048+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dlg1 has been classified as Red List (Low Evidence).",
"entity_name": "DLG1",
"entity_type": "gene"
},
{
"created": "2021-01-29T17:50:55.290893+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLG1 was added\ngene: DLG1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: DLG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DLG1 were set to 28926086\nPhenotypes for gene: DLG1 were set to Non-syndromic cleft lip and palate\nReview for gene: DLG1 was set to RED\nAdded comment: GWAS study PMID: 28926086 found genome-wide significance for several SNPs within this gene, identifying it as a candidate gene for non-syndromic cleft lip with or without cleft palate. \nSources: Expert list",
"entity_name": "DLG1",
"entity_type": "gene"
},
{
"created": "2021-01-29T15:03:11.445252+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PHF8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PHF8",
"entity_type": "gene"
},
{
"created": "2021-01-29T15:01:11.514923+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHF8 as ready",
"entity_name": "PHF8",
"entity_type": "gene"
},
{
"created": "2021-01-29T15:01:11.497086+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phf8 has been classified as Green List (High Evidence).",
"entity_name": "PHF8",
"entity_type": "gene"
},
{
"created": "2021-01-29T15:01:08.732591+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PHF8 were changed from MRXSSD; SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; Cleft lip to Mental retardation syndrome, X-linked, Siderius type, 300263",
"entity_name": "PHF8",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:59:35.232359+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PHF8 were set to ",
"entity_name": "PHF8",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:57:55.685115+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLCB4 as ready",
"entity_name": "PLCB4",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:57:55.677728+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plcb4 has been classified as Green List (High Evidence).",
"entity_name": "PLCB4",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:57:53.278769+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLCB4 were changed from Cleft palate to Auriculocondylar syndrome 2, MIM# 614669; Cleft palate",
"entity_name": "PLCB4",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:57:42.687133+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLCB4 were set to ",
"entity_name": "PLCB4",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:57:34.192840+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: PLCB4 was changed from to Other",
"entity_name": "PLCB4",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:57:28.420590+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLCB4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PLCB4",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:56:52.702658+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLCB4 as Green List (high evidence)",
"entity_name": "PLCB4",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:56:52.692465+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plcb4 has been classified as Green List (High Evidence).",
"entity_name": "PLCB4",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:56:44.355393+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLCB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23315542, 23913798; Phenotypes: Auriculocondylar syndrome 2, MIM# 614669; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PLCB4",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:52:19.908683+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLEKHA5 as ready",
"entity_name": "PLEKHA5",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:52:19.901581+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plekha5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLEKHA5",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:52:17.021615+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLEKHA5 were changed from cleft lip to Cleft lip and palate",
"entity_name": "PLEKHA5",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:51:59.469573+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLEKHA5 as Amber List (moderate evidence)",
"entity_name": "PLEKHA5",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:51:59.459411+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plekha5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLEKHA5",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:50:36.387093+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLEKHA7 as ready",
"entity_name": "PLEKHA7",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:50:36.373563+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plekha7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLEKHA7",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:50:27.441628+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLEKHA7 were changed from to Cleft lip and palate",
"entity_name": "PLEKHA7",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:50:01.936749+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLEKHA7 were set to ",
"entity_name": "PLEKHA7",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:49:38.519078+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLEKHA7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PLEKHA7",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:49:21.439744+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLEKHA7 as Amber List (moderate evidence)",
"entity_name": "PLEKHA7",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:49:21.429341+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plekha7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLEKHA7",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:49:03.265069+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLEKHA7: Rating: AMBER; Mode of pathogenicity: None; Publications: 29805042; Phenotypes: Cleft lip and palate; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PLEKHA7",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:48:17.638775+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLEKHA7 as ready",
"entity_name": "PLEKHA7",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:48:17.628675+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plekha7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLEKHA7",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:48:15.624162+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLEKHA7 were changed from cleft lip to Cleft lip and palate",
"entity_name": "PLEKHA7",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:47:54.946319+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLEKHA7: Rating: AMBER; Mode of pathogenicity: None; Publications: 29805042; Phenotypes: Cleft palate; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PLEKHA7",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:40:16.375199+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL11 as ready",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:40:16.364556+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl11 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:40:14.045836+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPL11 were changed from Cleft palate to Diamond-Blackfan anemia 7, MIM# 612562; Cleft palate",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:40:03.371893+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPL11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:39:54.382319+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RPL11 as Amber List (moderate evidence)",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:39:54.374503+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl11 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:39:44.286751+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPL11: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia 7, MIM# 612562; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:31:51.928672+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RSPO2 as ready",
"entity_name": "RSPO2",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:31:51.915114+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rspo2 has been classified as Green List (High Evidence).",
"entity_name": "RSPO2",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:31:49.075087+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RSPO2 were changed from Cleft lip to Tetraamelia syndrome 2, MIM# 618021; Cleft lip and palate",
"entity_name": "RSPO2",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:31:34.545020+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RSPO2 were set to ",
"entity_name": "RSPO2",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:31:24.727597+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RSPO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RSPO2",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:31:14.538106+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RSPO2 as Green List (high evidence)",
"entity_name": "RSPO2",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:31:14.529806+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rspo2 has been classified as Green List (High Evidence).",
"entity_name": "RSPO2",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:31:04.958822+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RSPO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29769720, 32457899; Phenotypes: Tetraamelia syndrome 2, MIM# 618021; Mode of inheritance: None",
"entity_name": "RSPO2",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:26:32.068411+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBX1 as ready",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:26:32.060367+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx1 has been classified as Green List (High Evidence).",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:26:28.302716+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBX1 were changed from CTHM; CONOTRUNCAL HEART MALFORMATIONS; Cleft palate to Velocardiofacial syndrome, MIM# 192430; Cleft palate",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:26:14.281442+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBX1 were set to ",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:26:05.550590+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBX1 as Green List (high evidence)",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:26:05.538608+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx1 has been classified as Green List (High Evidence).",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:25:58.509072+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: TBX1.",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:25:48.467955+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29500247; Phenotypes: Velocardiofacial syndrome, MIM# 192430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:17:14.601049+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBX2 was added\ngene: TBX2 was added to Clefting_GEL. Sources: Expert list\nMode of inheritance for gene: TBX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TBX2 were set to 29726930\nPhenotypes for gene: TBX2 were set to Vertebral anomalies and variable endocrine and T-cell dysfunction, MIM#\t618223\nReview for gene: TBX2 was set to RED\nAdded comment: Four individuals reported from two unrelated families with a syndromic disorder, chiefly comprising skeletal, endocrine and immune abnormalities, reminiscent of VCFS. One of the four reported individuals had unilateral cleft lip/palate. \nSources: Expert list",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:14:39.544291+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6127",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ALMS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17594715; Phenotypes: Alstrom syndrome MIM#203800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:11:42.660824+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TFAP2B as ready",
"entity_name": "TFAP2B",
"entity_type": "gene"
}
]
}