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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=381",
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"results": [
{
"created": "2024-09-27T19:11:07.679488+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6269",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FKRP were set to ",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2024-09-27T19:10:07.139804+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6268",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FKRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2024-09-27T19:09:22.078121+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6267",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: None; Publications: 33200426, 11053680, 12654965, 14652796, 15121789; Phenotypes: myopathy caused by variation in FKRP MONDO:0700066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2024-09-27T18:39:08.365554+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6267",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FIG4 as ready",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2024-09-27T18:39:08.348892+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6267",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fig4 has been classified as Green List (High Evidence).",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2024-09-27T18:38:54.685329+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6267",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FIG4 were changed from to Charcot-Marie-Tooth disease MONDO:0015626",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2024-09-27T18:37:49.429556+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6266",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FIG4 were set to ",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2024-09-27T18:37:10.684372+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6265",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2024-09-27T18:36:29.025231+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6264",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 32385905, 34122524, 36529678; Phenotypes: Charcot-Marie-Tooth disease MONDO:0015626; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2024-09-27T18:18:17.706968+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.934",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FBXL4 as ready",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2024-09-27T18:18:17.689506+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.934",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fbxl4 has been classified as Green List (High Evidence).",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2024-09-27T18:18:07.335783+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.934",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FBXL4 were set to ",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2024-09-27T18:16:46.693120+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.933",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FBXL4 were changed from to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2024-09-27T18:15:49.726093+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6264",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FBXL4 as ready",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2024-09-27T18:15:49.707137+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6264",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fbxl4 has been classified as Green List (High Evidence).",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2024-09-27T18:15:30.346829+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6264",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FBXL4 were changed from to Leigh syndrome MONDO:0009723",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2024-09-27T18:14:51.017311+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.932",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FBXL4 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2024-09-27T18:14:30.226573+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6263",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FBXL4 were set to ",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2024-09-27T18:14:09.836655+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.931",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FBXL4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2024-09-27T18:13:25.696815+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6262",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FBXL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28383868; Phenotypes: Leigh syndrome MONDO:0009723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2024-09-27T18:11:18.052168+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6262",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FBXL4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2024-09-27T18:04:02.149767+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6261",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FAT4 as ready",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2024-09-27T18:04:02.132075+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6261",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fat4 has been classified as Green List (High Evidence).",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2024-09-27T17:59:10.151980+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6261",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FAT4 were changed from to Hennekam syndrome MONDO:0016256; van Maldergem syndrome MONDO:0017813",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2024-09-27T17:58:32.013895+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6260",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FAT4 were set to ",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2024-09-27T17:57:50.727960+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6259",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAT4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2024-09-27T17:56:28.605997+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6258",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FAT4: Rating: GREEN; Mode of pathogenicity: None; Publications: 29681106; Phenotypes: Hennekam syndrome MONDO:0016256, van Maldergem syndrome MONDO:0017813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2024-09-27T17:40:30.152279+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.280",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FAM20C as ready",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2024-09-27T17:40:30.135128+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.280",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fam20c has been classified as Green List (High Evidence).",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2024-09-27T17:39:35.835309+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.280",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FAM20C as Green List (high evidence)",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2024-09-27T17:39:35.824966+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.280",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fam20c has been classified as Green List (High Evidence).",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2024-09-27T17:38:31.862551+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.279",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FAM20C was added\ngene: FAM20C was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAM20C were set to 34360805\nPhenotypes for gene: FAM20C were set to lethal osteosclerotic bone dysplasia MONDO:0009821\nReview for gene: FAM20C was set to GREEN\ngene: FAM20C was marked as current diagnostic\nAdded comment: Microcephaly is present in ~36% of reported cases. \nSources: Literature",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2024-09-27T17:37:18.819572+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6258",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FAM20C as ready",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2024-09-27T17:37:18.803797+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6258",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fam20c has been classified as Green List (High Evidence).",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2024-09-27T17:36:58.104106+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6258",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FAM20C were changed from to lethal osteosclerotic bone dysplasia MONDO:0009821",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2024-09-27T17:34:22.660583+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.146",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FAM20C as ready",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2024-09-27T17:34:22.649461+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.146",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fam20c has been classified as Red List (Low Evidence).",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2024-09-27T17:33:35.735031+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.146",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FAM20C as Red List (low evidence)",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2024-09-27T17:33:35.728078+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.146",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Microcephaly rather than macrocephaly/megalencephaly is a feature of the condition",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2024-09-27T17:33:35.677804+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.146",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fam20c has been classified as Red List (Low Evidence).",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2024-09-27T17:29:25.743385+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6257",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FAM20C were set to ",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2024-09-27T17:28:33.909773+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6256",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAM20C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2024-09-27T17:27:40.511357+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6255",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FAM20C: Rating: GREEN; Mode of pathogenicity: None; Publications: 34360805; Phenotypes: lethal osteosclerotic bone dysplasia MONDO:0009821; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2024-09-27T17:14:34.432663+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6255",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FAM126A as ready",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2024-09-27T17:14:34.416111+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6255",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fam126a has been classified as Green List (High Evidence).",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2024-09-27T17:14:07.945557+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6255",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FAM126A were changed from to hypomyelinating leukodystrophy 5 MONDO:0012514",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2024-09-27T17:12:19.343969+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6254",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FAM126A were set to ",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2024-09-27T17:11:27.108697+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6253",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAM126A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2024-09-27T17:10:41.886921+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6252",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FAM126A: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301737; Phenotypes: hypomyelinating leukodystrophy 5 MONDO:0012514; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2024-09-27T17:05:33.635578+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6252",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ESCO2 as ready",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2024-09-27T17:05:33.614119+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6252",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: esco2 has been classified as Green List (High Evidence).",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2024-09-27T17:05:21.767632+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6252",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ESCO2 were changed from to Roberts-SC phocomelia syndrome MONDO:0100253",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2024-09-27T17:04:39.583982+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6251",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ESCO2 were set to ",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2024-09-27T17:04:02.733364+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6250",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: ESCO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2024-09-27T17:03:26.775737+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6249",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ESCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301332; Phenotypes: Roberts-SC phocomelia syndrome MONDO:0100253; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2024-09-26T16:41:02.425486+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6249",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: INPP5K: Rating: GREEN; Mode of pathogenicity: None; Publications: 28190456, 28190459; Phenotypes: congenital muscular dystrophy with cataracts and intellectual disability MONDO:0024607; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "INPP5K",
"entity_type": "gene"
},
{
"created": "2024-09-26T16:37:16.909554+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6249",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301645; Phenotypes: Incontinentia pigmenti MONDO:0010631; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2024-09-26T16:00:16.303867+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.339",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: PRUNE1 as ready",
"entity_name": "PRUNE1",
"entity_type": "gene"
},
{
"created": "2024-09-26T16:00:16.288640+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.339",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: prune1 has been classified as Green List (High Evidence).",
"entity_name": "PRUNE1",
"entity_type": "gene"
},
{
"created": "2024-09-26T16:00:12.507994+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.339",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: PRUNE1 were changed from Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481 (3), Autosomal recessive to Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MIM#617481",
"entity_name": "PRUNE1",
"entity_type": "gene"
},
{
"created": "2024-09-26T15:59:54.919341+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.338",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: PRUNE1 were set to ",
"entity_name": "PRUNE1",
"entity_type": "gene"
},
{
"created": "2024-09-26T15:59:04.312318+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.337",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: RBM10 as ready",
"entity_name": "RBM10",
"entity_type": "gene"
},
{
"created": "2024-09-26T15:59:04.282651+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.337",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: rbm10 has been classified as Green List (High Evidence).",
"entity_name": "RBM10",
"entity_type": "gene"
},
{
"created": "2024-09-26T15:58:58.506012+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.337",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: RBM10 were set to ",
"entity_name": "RBM10",
"entity_type": "gene"
},
{
"created": "2024-09-26T15:57:45.575838+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.336",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: RFXAP as ready",
"entity_name": "RFXAP",
"entity_type": "gene"
},
{
"created": "2024-09-26T15:57:45.561097+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.336",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: rfxap has been classified as Green List (High Evidence).",
"entity_name": "RFXAP",
"entity_type": "gene"
},
{
"created": "2024-09-26T15:57:41.763332+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.336",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: RFXAP were changed from Bare lymphocyte syndrome, type II, complementation group D, 209920 (3) to MHC class II deficiency 4 MIM#620817",
"entity_name": "RFXAP",
"entity_type": "gene"
},
{
"created": "2024-09-26T15:57:07.620046+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.335",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: RFXAP were set to ",
"entity_name": "RFXAP",
"entity_type": "gene"
},
{
"created": "2024-09-26T15:56:17.710481+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.334",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: SARS2 as ready",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2024-09-26T15:56:17.698954+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.334",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: sars2 has been classified as Green List (High Evidence).",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2024-09-26T15:56:11.032479+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.334",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: SARS2 were set to ",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2024-09-26T15:54:44.932961+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.333",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: SLC13A5 as ready",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2024-09-26T15:54:44.919681+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.333",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: slc13a5 has been classified as Green List (High Evidence).",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2024-09-26T15:54:41.017079+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.333",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: SLC13A5 were changed from Epileptic encephalopathy, early infantile, 25, 615905 (3) to Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2024-09-26T15:54:04.701482+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.332",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: SLC13A5 were set to ",
"entity_name": "SLC13A5",
"entity_type": "gene"
},
{
"created": "2024-09-26T15:53:04.296051+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.331",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: SLC2A10 as ready",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2024-09-26T15:53:04.281742+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.331",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: slc2a10 has been classified as Green List (High Evidence).",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2024-09-26T15:52:58.619699+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.331",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: SLC2A10 were set to ",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2024-09-26T15:52:03.550090+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.330",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: SLC45A2 as ready",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2024-09-26T15:52:03.542526+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.330",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Gene also known as MATP",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2024-09-26T15:52:03.468084+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.330",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: slc45a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2024-09-26T15:49:36.768125+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.330",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: SLC45A2 were set to 11574907; 14722913; 14961451",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2024-09-26T15:48:38.876495+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.329",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: SLC45A2 were set to ",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2024-09-26T15:46:07.302781+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.328",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: SLC6A3 as ready",
"entity_name": "SLC6A3",
"entity_type": "gene"
},
{
"created": "2024-09-26T15:46:07.281375+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.328",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: slc6a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC6A3",
"entity_type": "gene"
},
{
"created": "2024-09-26T15:46:00.229220+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.328",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: SLC6A3 were set to ",
"entity_name": "SLC6A3",
"entity_type": "gene"
},
{
"created": "2024-09-26T15:44:55.165585+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.327",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: SPAG1 as ready",
"entity_name": "SPAG1",
"entity_type": "gene"
},
{
"created": "2024-09-26T15:44:55.155725+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.327",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: spag1 has been classified as Green List (High Evidence).",
"entity_name": "SPAG1",
"entity_type": "gene"
},
{
"created": "2024-09-26T15:44:51.707345+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.327",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: SPAG1 were set to ",
"entity_name": "SPAG1",
"entity_type": "gene"
},
{
"created": "2024-09-26T15:44:06.735112+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.326",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: SPEG as ready",
"entity_name": "SPEG",
"entity_type": "gene"
},
{
"created": "2024-09-26T15:44:06.720751+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.326",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: speg has been classified as Green List (High Evidence).",
"entity_name": "SPEG",
"entity_type": "gene"
},
{
"created": "2024-09-26T15:44:02.116577+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.326",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: SPEG were set to 29614691; 30157964; 25087613; 29474540; 31625632; 28624463; 26578207; 30412272",
"entity_name": "SPEG",
"entity_type": "gene"
},
{
"created": "2024-09-26T14:55:44.154970+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6249",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 17603483, 17603482, 31145547, 31030682, 29271604; Phenotypes: Noonan syndrome 5, MIM# 611553; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2024-09-26T14:54:42.293336+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6249",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: RIT1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 23791108, 25124994, 24939608, 27101134; Phenotypes: Noonan syndrome 8, MIM# 615355; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RIT1",
"entity_type": "gene"
},
{
"created": "2024-09-26T14:54:13.287093+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6249",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RRAS2 as Green List (high evidence)",
"entity_name": "RRAS2",
"entity_type": "gene"
},
{
"created": "2024-09-26T14:54:13.272350+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6249",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rras2 has been classified as Green List (High Evidence).",
"entity_name": "RRAS2",
"entity_type": "gene"
},
{
"created": "2024-09-26T14:53:34.797015+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6248",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: RRAS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "RRAS2",
"entity_type": "gene"
},
{
"created": "2024-09-26T14:51:08.179570+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6248",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 11992261,21533187, 24935154; Phenotypes: LEOPARD syndrome 1, 151100 AD (for reporting use Noonan syndrome with multiple lentigines), Metachondromatosis, 156250 AD, Noonan syndrome 1, 163950 AD, Leukemia, juvenile myelomonocytic, somatic, 607785; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2024-09-26T14:49:22.695247+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6248",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 21797849, 16474404, 16474405, 16773572, 17056636; Phenotypes: Noonan syndrome 3, MIM# 609942, Cardiofaciocutaneous syndrome 2, MIM# 615278; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2024-09-26T14:49:02.090624+10:00",
"panel_name": "Rasopathy",
"panel_id": 164,
"panel_version": "0.105",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: KRAS: Rating: ; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "KRAS",
"entity_type": "gene"
}
]
}