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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=291",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=289",
"results": [
{
"created": "2025-03-03T13:23:58.335406+11:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC31A1 as ready",
"entity_name": "SLC31A1",
"entity_type": "gene"
},
{
"created": "2025-03-03T13:23:58.327203+11:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc31a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC31A1",
"entity_type": "gene"
},
{
"created": "2025-03-03T13:23:56.299841+11:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC31A1 were changed from congenital copper transport defect; seizures; neurodegeneration to Neurodegeneration and seizures due to copper transport defect, MIM# 620306",
"entity_name": "SLC31A1",
"entity_type": "gene"
},
{
"created": "2025-03-03T13:23:23.038271+11:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC31A1 as Amber List (moderate evidence)",
"entity_name": "SLC31A1",
"entity_type": "gene"
},
{
"created": "2025-03-03T13:23:23.028551+11:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc31a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC31A1",
"entity_type": "gene"
},
{
"created": "2025-03-03T13:23:09.323028+11:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC31A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SLC31A1",
"entity_type": "gene"
},
{
"created": "2025-03-03T13:20:45.565750+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCNN1G were set to ",
"entity_name": "SCNN1G",
"entity_type": "gene"
},
{
"created": "2025-03-03T13:20:20.043433+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCNN1G as Red List (low evidence)",
"entity_name": "SCNN1G",
"entity_type": "gene"
},
{
"created": "2025-03-03T13:20:20.033801+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scnn1g has been classified as Red List (Low Evidence).",
"entity_name": "SCNN1G",
"entity_type": "gene"
},
{
"created": "2025-03-03T13:18:41.498768+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NR5A1 were set to 31513305",
"entity_name": "NR5A1",
"entity_type": "gene"
},
{
"created": "2025-03-03T13:18:23.314078+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NR5A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NR5A1",
"entity_type": "gene"
},
{
"created": "2025-03-03T13:18:04.321388+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NR5A1: Added comment: Rare reports of sex reversal with biallelic variants (hmz). RED/AMBER for this MOI.; Changed publications: 31513305, 38650427, 20453312; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NR5A1",
"entity_type": "gene"
},
{
"created": "2025-03-03T13:17:21.561358+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NR5A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NR5A1",
"entity_type": "gene"
},
{
"created": "2025-03-03T13:16:08.056789+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NR5A1 were set to 31513305",
"entity_name": "NR5A1",
"entity_type": "gene"
},
{
"created": "2025-03-03T13:15:38.954166+11:00",
"panel_name": "Differences of Sex Development",
"panel_id": 99,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NR5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 38650427, 20453312; Phenotypes: 46XY sex reversal 3, (MIM#612965); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NR5A1",
"entity_type": "gene"
},
{
"created": "2025-03-03T11:52:10.226429+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2333",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: MBTPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008256; Phenotypes: spondyloepiphyseal dysplasia, kondo-fu type MONDO:0032721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MBTPS1",
"entity_type": "gene"
},
{
"created": "2025-03-03T09:54:21.000788+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2333",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: MBD5: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005344; Phenotypes: complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MBD5",
"entity_type": "gene"
},
{
"created": "2025-03-03T08:39:12.017097+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2333",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: MARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005338; Phenotypes: mitochondrial disease MONDO:0044970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2025-03-01T14:06:59.337611+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2333",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: DUOX2 were set to 35429653; 27373512; 26301257; 28683258",
"entity_name": "DUOX2",
"entity_type": "gene"
},
{
"created": "2025-03-01T14:02:51.754134+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: DUOX2: Rating: RED; Mode of pathogenicity: None; Publications: 27525530; Phenotypes: Congenital hypothyroidism MONDO:0018612; Mode of inheritance: Other",
"entity_name": "DUOX2",
"entity_type": "gene"
},
{
"created": "2025-03-01T13:59:27.477751+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: DUOX2 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DUOX2",
"entity_type": "gene"
},
{
"created": "2025-02-28T21:44:57.221086+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CNTN6 as ready",
"entity_name": "CNTN6",
"entity_type": "gene"
},
{
"created": "2025-02-28T21:44:57.206128+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cntn6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CNTN6",
"entity_type": "gene"
},
{
"created": "2025-02-28T21:43:58.999158+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CNTN6 as Amber List (moderate evidence)",
"entity_name": "CNTN6",
"entity_type": "gene"
},
{
"created": "2025-02-28T21:43:58.993070+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cntn6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CNTN6",
"entity_type": "gene"
},
{
"created": "2025-02-28T21:43:51.447328+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CNTN6 was added\ngene: CNTN6 was added to Congenital hypothyroidism. Sources: Literature\nMode of inheritance for gene: CNTN6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CNTN6 were set to 38183624\nPhenotypes for gene: CNTN6 were set to congenital hypothyroidism MONDO:0018612\nReview for gene: CNTN6 was set to AMBER\nAdded comment: 2 probands with CH, 1 with a homozygous missense & 1 with compound het missense variants. Supporting in vitro functional assays. \nSources: Literature",
"entity_name": "CNTN6",
"entity_type": "gene"
},
{
"created": "2025-02-28T21:42:42.386784+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2332",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: CNTN6 were changed from Neurodevelopmental disorder, MONDO:0700092, CNTN6-related to Neurodevelopmental disorder, MONDO:0700092, CNTN6-related; congenital hypothyroidism MONDO:0018612",
"entity_name": "CNTN6",
"entity_type": "gene"
},
{
"created": "2025-02-28T21:42:27.330183+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2331",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: CNTN6 were set to 30836150; 28641109; 29983269",
"entity_name": "CNTN6",
"entity_type": "gene"
},
{
"created": "2025-02-28T21:42:09.092950+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2330",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: CNTN6 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNTN6",
"entity_type": "gene"
},
{
"created": "2025-02-28T21:41:51.433259+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2329",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CNTN6 as Amber List (moderate evidence)",
"entity_name": "CNTN6",
"entity_type": "gene"
},
{
"created": "2025-02-28T21:41:51.426371+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2329",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cntn6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CNTN6",
"entity_type": "gene"
},
{
"created": "2025-02-28T21:41:28.241584+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2328",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: CNTN6: Rating: AMBER; Mode of pathogenicity: None; Publications: 38183624; Phenotypes: congenital hypothyroidism MONDO:0018612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNTN6",
"entity_type": "gene"
},
{
"created": "2025-02-28T21:39:26.817754+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: DUOX1 were set to PMID: 29650690",
"entity_name": "DUOX1",
"entity_type": "gene"
},
{
"created": "2025-02-28T21:39:17.542292+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DUOX1 as Red List (low evidence)",
"entity_name": "DUOX1",
"entity_type": "gene"
},
{
"created": "2025-02-28T21:39:17.536231+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: duox1 has been classified as Red List (Low Evidence).",
"entity_name": "DUOX1",
"entity_type": "gene"
},
{
"created": "2025-02-28T21:39:06.135162+11:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: DUOX1: Rating: RED; Mode of pathogenicity: None; Publications: 29650690, 28633507; Phenotypes: congenital hypothyroidism MONDO:0018612; Mode of inheritance: Unknown",
"entity_name": "DUOX1",
"entity_type": "gene"
},
{
"created": "2025-02-28T21:35:31.406372+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2328",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: DUOX1 were changed from congenital hypothyroidism, No OMIM # to congenital hypothyroidism MONDO:0018612",
"entity_name": "DUOX1",
"entity_type": "gene"
},
{
"created": "2025-02-28T21:35:15.261230+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2327",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: DUOX1 were set to 29650690",
"entity_name": "DUOX1",
"entity_type": "gene"
},
{
"created": "2025-02-28T21:34:51.875876+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2326",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DUOX1 as Red List (low evidence)",
"entity_name": "DUOX1",
"entity_type": "gene"
},
{
"created": "2025-02-28T21:34:51.869348+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2326",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: duox1 has been classified as Red List (Low Evidence).",
"entity_name": "DUOX1",
"entity_type": "gene"
},
{
"created": "2025-02-28T21:34:32.302648+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2325",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: DUOX1: Rating: RED; Mode of pathogenicity: None; Publications: 29650690, 28633507; Phenotypes: congenital hypothyroidism MONDO:0018612; Mode of inheritance: Unknown",
"entity_name": "DUOX1",
"entity_type": "gene"
},
{
"created": "2025-02-28T20:27:26.400384+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2325",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: None; Publications: 23862974, 37746849, 34608560; Phenotypes: congenital anomalies of kidney and urinary tract 1 MONDO:0012561; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2025-02-28T19:23:16.772180+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2325",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: DSPP were set to ",
"entity_name": "DSPP",
"entity_type": "gene"
},
{
"created": "2025-02-28T19:22:11.290883+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2324",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: DSG3 were set to 30528827",
"entity_name": "DSG3",
"entity_type": "gene"
},
{
"created": "2025-02-28T19:22:03.440044+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: DSG3 were set to 30528827",
"entity_name": "DSG3",
"entity_type": "gene"
},
{
"created": "2025-02-28T19:21:13.950751+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DSG3 as Amber List (moderate evidence)",
"entity_name": "DSG3",
"entity_type": "gene"
},
{
"created": "2025-02-28T19:21:13.943487+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dsg3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DSG3",
"entity_type": "gene"
},
{
"created": "2025-02-28T19:20:47.628416+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: DSG3: Rating: AMBER; Mode of pathogenicity: None; Publications: 26763450, 37850634, 30528827; Phenotypes: Blistering, acantholytic, of oral and laryngeal mucosa MONDO:0030986; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DSG3",
"entity_type": "gene"
},
{
"created": "2025-02-28T19:20:36.366157+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2323",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DSG3 as Amber List (moderate evidence)",
"entity_name": "DSG3",
"entity_type": "gene"
},
{
"created": "2025-02-28T19:20:36.355681+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2323",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: dsg3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DSG3",
"entity_type": "gene"
},
{
"created": "2025-02-28T19:20:20.264933+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2322",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: DSG3: Rating: AMBER; Mode of pathogenicity: None; Publications: 26763450, 37850634, 30528827; Phenotypes: Blistering, acantholytic, of oral and laryngeal mucosa MONDO:0030986; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DSG3",
"entity_type": "gene"
},
{
"created": "2025-02-28T19:15:52.940463+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2322",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: DRD3 were set to 16650084; 16809426; 17339592",
"entity_name": "DRD3",
"entity_type": "gene"
},
{
"created": "2025-02-28T19:15:09.244775+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2321",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: DRD3 were set to ",
"entity_name": "DRD3",
"entity_type": "gene"
},
{
"created": "2025-02-28T19:14:18.170343+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2320",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: DPYS were set to ",
"entity_name": "DPYS",
"entity_type": "gene"
},
{
"created": "2025-02-28T19:13:18.242486+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2319",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: DPY19L2 were set to ",
"entity_name": "DPY19L2",
"entity_type": "gene"
},
{
"created": "2025-02-28T19:11:43.466368+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2318",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: DRD2 as Amber List (moderate evidence)",
"entity_name": "DRD2",
"entity_type": "gene"
},
{
"created": "2025-02-28T19:11:43.458462+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2318",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: drd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DRD2",
"entity_type": "gene"
},
{
"created": "2025-02-28T19:11:22.171594+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2317",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: DRD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 36456191, 34145635, 33200438; Phenotypes: Combined dystonia, MONDO:0020065, DRD2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DRD2",
"entity_type": "gene"
},
{
"created": "2025-02-28T14:13:18.869779+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: APOA4 were changed from Hereditary amyloidosis, MONDO:0018634, APOA4-related to Hereditary amyloidosis, MONDO:0018634, APOA4-related; Tubulointerstitial kidney disease, autosomal dominant 6, MIM# 621106",
"entity_name": "APOA4",
"entity_type": "gene"
},
{
"created": "2025-02-28T14:12:58.678206+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: APOA4: Changed phenotypes: Hereditary amyloidosis, MONDO:0018634, APOA4-related, Tubulointerstitial kidney disease, autosomal dominant 6, MIM# 621106",
"entity_name": "APOA4",
"entity_type": "gene"
},
{
"created": "2025-02-28T14:10:56.395183+11:00",
"panel_name": "Amyloidosis",
"panel_id": 191,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: APOA4 were changed from Hereditary amyloidosis, MONDO:0018634, APOA4-related to Hereditary amyloidosis, MONDO:0018634, APOA4-related; Tubulointerstitial kidney disease, autosomal dominant 6, MIM#\t621106",
"entity_name": "APOA4",
"entity_type": "gene"
},
{
"created": "2025-02-28T13:46:13.233813+11:00",
"panel_name": "Metal Metabolism Disorders",
"panel_id": 3469,
"panel_version": "0.45",
"user_name": "Himanshu Goel",
"item_type": "entity",
"text": "gene: SLC31A1 was added\ngene: SLC31A1 was added to Metal Metabolism Disorders. Sources: Literature\nMode of inheritance for gene: SLC31A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC31A1 were set to 35913762, 36562171\nPhenotypes for gene: SLC31A1 were set to congenital copper transport defect; seizures; neurodegeneration\nPenetrance for gene: SLC31A1 were set to Complete\nReview for gene: SLC31A1 was set to GREEN\ngene: SLC31A1 was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "SLC31A1",
"entity_type": "gene"
},
{
"created": "2025-02-28T11:28:44.541159+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.6",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: PIK3CD was added\ngene: PIK3CD was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: PIK3CD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: PIK3CD were set to PMID: 37600808\nPhenotypes for gene: PIK3CD were set to Immune dysregulation\nReview for gene: PIK3CD was set to GREEN\nAdded comment: Currently included in predominantly antibody deficiency and CVID panels - patients frequently present with features of immune dysregulation eg. autoimmunity and lymphoproliferation. \nSources: Literature",
"entity_name": "PIK3CD",
"entity_type": "gene"
},
{
"created": "2025-02-28T11:25:38.936338+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.6",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "gene: PIK3R1 was added\ngene: PIK3R1 was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PIK3R1 were set to PMID: 37600808\nPhenotypes for gene: PIK3R1 were set to Immune dysregulation\nReview for gene: PIK3R1 was set to GREEN\nAdded comment: Currently included in predominantly antibody deficiency and CVID panels - patients frequently present with features of immune dysregulation eg. autoimmunity and lymphoproliferation. \nSources: Literature",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2025-02-27T17:31:46.641070+11:00",
"panel_name": "Neuromuscular Superpanel",
"panel_id": 4092,
"panel_version": "3.354",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Changed child panels to: Hereditary Spastic Paraplegia - paediatric; Muscular dystrophy and myopathy_Paediatric; Hereditary Neuropathy_CMT - isolated; Limb-Girdle Muscular Dystrophy and Distal Myopathy; Ataxia - paediatric; Motor Neurone Disease; Gastrointestinal neuromuscular disease; Rhabdomyolysis and Metabolic Myopathy; Hereditary Neuropathy - complex; Ataxia - adult onset; Hereditary Spastic Paraplegia - adult onset; Congenital Myasthenia; Skeletal Muscle Channelopathies; Arthrogryposis",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-02-27T17:26:24.831397+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DAP3 were changed from Mitochondrial disease MONDO:0044970, DAP3-related to Perrault syndrome 7, MIM# 621101",
"entity_name": "DAP3",
"entity_type": "gene"
},
{
"created": "2025-02-27T17:26:16.213588+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DAP3: Changed phenotypes: Perrault syndrome 7, MIM# 621101",
"entity_name": "DAP3",
"entity_type": "gene"
},
{
"created": "2025-02-27T17:26:04.397645+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DAP3 were changed from Mitochondrial disease MONDO:0044970, DAP3-related to Perrault syndrome 7, MIM# 621101",
"entity_name": "DAP3",
"entity_type": "gene"
},
{
"created": "2025-02-27T17:25:41.980427+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DAP3: Changed phenotypes: Perrault syndrome 7, MIM# 621101",
"entity_name": "DAP3",
"entity_type": "gene"
},
{
"created": "2025-02-27T17:25:28.820272+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DAP3 were changed from Mitochondrial disease MONDO:0044970, DAP3-related to Perrault syndrome 7, MIM# 621101",
"entity_name": "DAP3",
"entity_type": "gene"
},
{
"created": "2025-02-27T17:25:01.318146+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DAP3: Changed phenotypes: Perrault syndrome 7, MIM# 621101",
"entity_name": "DAP3",
"entity_type": "gene"
},
{
"created": "2025-02-27T17:24:46.414160+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DAP3 were changed from Mitochondrial disease MONDO:0044970, DAP3-related to Perrault syndrome 7, MIM# 621101",
"entity_name": "DAP3",
"entity_type": "gene"
},
{
"created": "2025-02-27T17:24:28.288699+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DAP3: Changed phenotypes: Perrault syndrome 7, MIM# 621101",
"entity_name": "DAP3",
"entity_type": "gene"
},
{
"created": "2025-02-27T17:23:42.583644+11:00",
"panel_name": "Defects of intrinsic and innate immunity",
"panel_id": 231,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IRF4 as ready",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2025-02-27T17:23:42.573112+11:00",
"panel_name": "Defects of intrinsic and innate immunity",
"panel_id": 231,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf4 has been classified as Green List (High Evidence).",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2025-02-27T17:23:40.044874+11:00",
"panel_name": "Defects of intrinsic and innate immunity",
"panel_id": 231,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IRF4 were changed from combined immunodeficiency MONDO:0015131 to Immunodeficiency 131, MIM# 621097",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2025-02-27T17:23:08.596284+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IRF4 were changed from Combined immunodeficiency, MONDO:0015131, IRF4-related to Immunodeficiency 131, MIM# 621097",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2025-02-27T17:22:31.866881+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IRF4 were changed from Combined immunodeficiency, MONDO:0015131, IRF4-related to Immunodeficiency 131, MIM#\t621097",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2025-02-27T17:22:11.005312+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IRF4: Changed phenotypes: Immunodeficiency 131, MIM# 621097",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2025-02-27T17:21:22.568212+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAF3 were changed from {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, MIM# 614849 to Immunodeficiency 132B, MIM# 621096",
"entity_name": "TRAF3",
"entity_type": "gene"
},
{
"created": "2025-02-27T17:21:04.163720+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TRAF3: Changed phenotypes: Immunodeficiency 132B, MIM# 621096",
"entity_name": "TRAF3",
"entity_type": "gene"
},
{
"created": "2025-02-27T17:20:50.844701+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAF3 were changed from Autoinflammatory syndrome, TRAF3-related, MONDO:0019751; hypergammaglobulinemia; lymphadenopathy; splenomegaly, Sjögren’s syndrome to Immunodeficiency 132B, MIM# 621096",
"entity_name": "TRAF3",
"entity_type": "gene"
},
{
"created": "2025-02-27T17:20:21.306665+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TRAF3: Changed phenotypes: Immunodeficiency 132B, MIM# 621096",
"entity_name": "TRAF3",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:30:04.358770+11:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SH2B3: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:29:53.977481+11:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SH2B3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: juvenile myelomonocytic leukemia MONDO:0011908, SH2B3-related; Mode of inheritance: None",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:29:25.308439+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SH2B3 were changed from Predisposition to haematological malignancies; Myeloproliferation and multi-organ autoimmunity; juvenile myelomonocytic leukemia MONDO:001190, SH2B3-related to Predisposition to haematological malignancies; Myeloproliferation and multi-organ autoimmunity; juvenile myelomonocytic leukemia MONDO:0011908, SH2B3-related",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:28:54.774487+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SH2B3 were changed from Predisposition to haematological malignancies; Myeloproliferation and multi-organ autoimmunity; juvenile myelomonocytic leukemia MONDO:001190, SH2B3-related to Predisposition to haematological malignancies; Myeloproliferation and multi-organ autoimmunity; juvenile myelomonocytic leukemia MONDO:0011908, SH2B3-related",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:26:04.856998+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C12orf66 were changed from complex neurodevelopmental disorder MONDO:0100038 to Intellectual developmental disorder, autosomal recessive 83, MIM# 621100",
"entity_name": "C12orf66",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:25:39.502125+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C12orf66 were set to ",
"entity_name": "C12orf66",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:25:11.953084+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: C12orf66: Changed rating: GREEN; Changed phenotypes: Intellectual developmental disorder, autosomal recessive 83, MIM# 621100; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C12orf66",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:24:55.829109+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C12orf66 were changed from Neurodevelopmental disorder MONDO:0700092 to Intellectual developmental disorder, autosomal recessive 83, MIM# 621100",
"entity_name": "C12orf66",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:24:28.308917+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: C12orf66: Changed rating: GREEN; Changed phenotypes: Intellectual developmental disorder, autosomal recessive 83, MIM# 621100; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C12orf66",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:24:10.889285+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C12orf66 were changed from complex neurodevelopmental disorder MONDO:0100038 to Intellectual developmental disorder, autosomal recessive 83, MIM# 621100",
"entity_name": "C12orf66",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:23:53.668448+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C12orf66 were set to ",
"entity_name": "C12orf66",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:23:37.127740+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: C12orf66: Changed rating: GREEN; Changed phenotypes: Intellectual developmental disorder, autosomal recessive 83, MIM# 621100; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C12orf66",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:20:35.462451+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARFGEF3 as Amber List (moderate evidence)",
"entity_name": "ARFGEF3",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:20:35.451667+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arfgef3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARFGEF3",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:19:39.801517+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ERBB4 as Amber List (moderate evidence)",
"entity_name": "ERBB4",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:19:39.788233+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: erbb4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ERBB4",
"entity_type": "gene"
},
{
"created": "2025-02-27T16:18:57.580525+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZFHX3 were changed from Neurodevelopmental disorder, MONDO:0700092, ZFHX3-related to Neurodevelopmental disorder, MONDO:0700092, ZFHX3-related; developmental and epileptic encephalopathy MONDO:0100062, ZFHX3-related",
"entity_name": "ZFHX3",
"entity_type": "gene"
}
]
}