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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=982",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=980",
"results": [
{
"created": "2022-02-21T20:39:57.405268+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3786",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PKD1 were changed from Autosomal dominant polycystic kidney disease (ADPKD); Polycystic kidney disease, 173900 to Polycystic kidney disease 1, OMIM #173900",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:39:39.508510+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PKD1 were set to 23624871; 20558538",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:39:02.176277+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBL1X as ready",
"entity_name": "TBL1X",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:39:02.152614+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbl1x has been classified as Red List (Low Evidence).",
"entity_name": "TBL1X",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:38:55.256110+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBL1X as Red List (low evidence)",
"entity_name": "TBL1X",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:38:55.245051+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbl1x has been classified as Red List (Low Evidence).",
"entity_name": "TBL1X",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:38:42.081202+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3783",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBL1X: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "TBL1X",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:38:08.024565+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3783",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCB1 as ready",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:38:08.013008+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3783",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarcb1 has been classified as Green List (High Evidence).",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:38:01.334210+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3783",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMARCB1 were changed from RHABDOID PREDISPOSITION SYNDROME 1; ?COFFIN-SIRIS SYNDROME to Coffin-Siris syndrome 3, OMIM #614608",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:37:48.408714+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3782",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMARCB1 were set to ",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:37:28.317654+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMARCB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:36:37.711896+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3780",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TALDO1 as ready",
"entity_name": "TALDO1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:36:37.699032+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3780",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taldo1 has been classified as Green List (High Evidence).",
"entity_name": "TALDO1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:36:32.879389+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3780",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TALDO1 were set to ",
"entity_name": "TALDO1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:35:52.523398+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLK4 as ready",
"entity_name": "PLK4",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:35:52.514292+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plk4 has been classified as Green List (High Evidence).",
"entity_name": "PLK4",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:35:48.734634+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLK4 were changed from MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY to Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM #616171",
"entity_name": "PLK4",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:35:34.972694+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLK4 were set to ",
"entity_name": "PLK4",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:35:01.439217+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUCLG1 as ready",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:35:01.427197+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: suclg1 has been classified as Green List (High Evidence).",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:34:55.524377+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUCLG1 were changed from FATAL INFANTILE LACTIC ACIDOSIS to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:34:42.125808+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SUCLG1 were set to 21093335",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:33:35.986669+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SRY as ready",
"entity_name": "SRY",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:33:35.973680+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sry has been classified as Green List (High Evidence).",
"entity_name": "SRY",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:33:32.201990+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SRY were changed from 46XY SEX REVERSAL 1 to 46XY sex reversal 1, OMIM #400044; 46XX sex reversal 1, OMIM #400045",
"entity_name": "SRY",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:33:20.584063+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SRY were set to ",
"entity_name": "SRY",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:32:37.478778+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TG as ready",
"entity_name": "TG",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:32:37.466684+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tg has been classified as Green List (High Evidence).",
"entity_name": "TG",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:32:31.715137+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TG as Green List (high evidence)",
"entity_name": "TG",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:32:31.705317+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tg has been classified as Green List (High Evidence).",
"entity_name": "TG",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:32:02.150196+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC5A5 as ready",
"entity_name": "SLC5A5",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:32:02.138016+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc5a5 has been classified as Green List (High Evidence).",
"entity_name": "SLC5A5",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:31:56.355675+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC5A5 as Green List (high evidence)",
"entity_name": "SLC5A5",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:31:56.344120+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc5a5 has been classified as Green List (High Evidence).",
"entity_name": "SLC5A5",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:31:22.066469+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRPS1 as ready",
"entity_name": "TRPS1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:31:22.057009+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trps1 has been classified as Red List (Low Evidence).",
"entity_name": "TRPS1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:31:18.145241+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRPS1 were changed from TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 1 to Trichorhinophalangeal syndrome, type I, OMIM #190350; Trichorhinophalangeal syndrome, type III, OMIM #190351",
"entity_name": "TRPS1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:31:01.636616+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRPS1 were set to ",
"entity_name": "TRPS1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:30:43.712220+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRPS1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRPS1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:30:11.192447+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUCLG1 as ready",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:30:11.182345+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: suclg1 has been classified as Green List (High Evidence).",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:30:03.542680+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUCLG1 were changed from to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:29:44.030937+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SUCLG1 were set to ",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:29:20.080467+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SUCLG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:28:48.790982+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBCE as ready",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:28:48.775830+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbce has been classified as Green List (High Evidence).",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:28:43.593301+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBCE were changed from HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy; KENNY-CAFFEY SYNDROME TYPE 1 to Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410; Kenny-Caffey syndrome, type 1, OMIM #244460; Encephalopathy, progressive, with amyotrophy and optic atrophy OMIM #617207",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:28:29.496048+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBCE were set to ",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:27:51.264506+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC26A7 as ready",
"entity_name": "SLC26A7",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:27:51.253282+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc26a7 has been classified as Red List (Low Evidence).",
"entity_name": "SLC26A7",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:27:34.320875+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC26A7 as Red List (low evidence)",
"entity_name": "SLC26A7",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:27:34.311511+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc26a7 has been classified as Red List (Low Evidence).",
"entity_name": "SLC26A7",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:27:19.902527+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC26A7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SLC26A7",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:26:45.951417+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RUNX2 as ready",
"entity_name": "RUNX2",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:26:45.941798+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: runx2 has been classified as Green List (High Evidence).",
"entity_name": "RUNX2",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:26:37.608958+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RUNX2 were changed from to Cleidocranial dysplasia MIM#119600; Cleidocranial dysplasia, forme fruste, dental anomalies only MIM#119600; Cleidocranial dysplasia, forme fruste, with brachydactyly MIM#119600; Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly MIM#156510",
"entity_name": "RUNX2",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:26:23.623854+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RUNX2 were set to ",
"entity_name": "RUNX2",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:26:05.309943+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11048",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RUNX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RUNX2",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:25:31.234142+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX7 as ready",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:25:31.222384+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex7 has been classified as Green List (High Evidence).",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:25:24.637698+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX7 were changed from RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1; REFSUM DISEASE; PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 11 to Peroxisome biogenesis disorder 9B, OMIM# 614879; Rhizomelic chondrodysplasia punctata, type 1, OMIM# 215100",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:25:02.294751+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX7 were set to ",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:24:11.970205+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RUNX2 as ready",
"entity_name": "RUNX2",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:24:11.954102+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: runx2 has been classified as Green List (High Evidence).",
"entity_name": "RUNX2",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:24:07.028076+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RUNX2 were changed from CLEIDOCRANIAL DYSPLASIA to Cleidocranial dysplasia MIM#119600; Cleidocranial dysplasia, forme fruste, with brachydactyly MIM#119600",
"entity_name": "RUNX2",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:23:54.707345+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RUNX2 were set to ",
"entity_name": "RUNX2",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:23:44.696631+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RUNX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RUNX2",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:23:11.176735+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC26A4 as ready",
"entity_name": "SLC26A4",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:23:11.163396+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc26a4 has been classified as Red List (Low Evidence).",
"entity_name": "SLC26A4",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:23:04.507010+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC26A4 as Red List (low evidence)",
"entity_name": "SLC26A4",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:23:04.485201+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc26a4 has been classified as Red List (Low Evidence).",
"entity_name": "SLC26A4",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:22:52.182059+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC26A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SLC26A4",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:21:52.384421+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RTEL1 as ready",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:21:52.365801+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rtel1 has been classified as Green List (High Evidence).",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:21:28.860889+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RTEL1 were changed from DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5; DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4 to Dyskeratosis congenita, autosomal recessive 5 MIM#615190; Hoyeraal-Hreidarsson syndrome",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:21:05.718356+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RTEL1 were set to ",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:20:28.555071+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PROP1 as ready",
"entity_name": "PROP1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:20:28.544093+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prop1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PROP1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:20:21.027113+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PROP1 as Amber List (moderate evidence)",
"entity_name": "PROP1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:20:21.013920+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3757",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prop1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PROP1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:19:43.235522+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3756",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: TPO was added\ngene: TPO was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: TPO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TPO were set to 34220711; 30662777\nPhenotypes for gene: TPO were set to Thyroid dyshormonogenesis 2A - MIM#274500\nReview for gene: TPO was set to GREEN\nAdded comment: Well-established association with thyroid dyshormonogenesis. 3 affected individuals from 2 unrelated families reported with fetal goitre.\r\n\r\n34220711 Rodrigues et al 2021 - report 2 siblings who were diagnosed with fetal goitre on antenatal ultrasound at 26 and 32 weeks gestation. Pathogenic compound het TPO variants identified inherited from unaffected carrier parents.\r\n\r\n30662777 - report a proband diagnosed with fetal goitre at 29 weeks gestation. Compound heterozygous TPO variants identified. \nSources: Literature",
"entity_name": "TPO",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:19:16.513076+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11047",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RRM2B as ready",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:19:16.500546+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11047",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rrm2b has been classified as Green List (High Evidence).",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:19:08.032086+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11047",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RRM2B were changed from to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:18:48.447171+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11046",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RRM2B were set to ",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:18:30.455049+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11045",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RRM2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:18:02.457940+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RRM2B as ready",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:18:02.438243+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rrm2b has been classified as Red List (Low Evidence).",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:17:58.333132+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3756",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RRM2B were changed from Mitochondrial depletion syndrome to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:17:45.530735+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3755",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RRM2B were set to ",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:17:35.808206+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RRM2B as Red List (low evidence)",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:17:35.799371+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rrm2b has been classified as Red List (Low Evidence).",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:16:57.094817+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS6KA3 as ready",
"entity_name": "RPS6KA3",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:16:57.080961+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps6ka3 has been classified as Green List (High Evidence).",
"entity_name": "RPS6KA3",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:16:53.261709+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPS6KA3 were changed from COFFIN-LOWRY SYNDROME to Coffin-Lowry syndrome MIM#303600; Intellectual developmental disorder, X-linked 19 MIM#300844",
"entity_name": "RPS6KA3",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:16:38.747481+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3752",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPS6KA3 were set to ",
"entity_name": "RPS6KA3",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:16:06.952754+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ROR2 as ready",
"entity_name": "ROR2",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:16:06.943110+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ror2 has been classified as Green List (High Evidence).",
"entity_name": "ROR2",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:15:58.275160+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ROR2 were changed from BRACHYDACTYLY, TYPE B1; ROBINOW SYNDROME, AUTOSOMAL DOMINANT; ROR2-RELATED DISORDERS AR to Brachydactyly, type B1 MIM#113000; Robinow syndrome, autosomal recessive MIM#268310",
"entity_name": "ROR2",
"entity_type": "gene"
}
]
}