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{
"count": 220423,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=798",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=796",
"results": [
{
"created": "2022-07-15T20:08:17.753977+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah5 has been classified as Green List (High Evidence).",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2022-07-15T20:08:15.369533+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAH5 were changed from Atrial septal defect; Ventricular septal defect; Atrioventricular septal defect; Transposition of the great arteries to Ciliary dyskinesia, primary, 3, with or without situs inversus, MIM# 608644",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2022-07-15T20:07:45.747072+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNAH5 as Green List (high evidence)",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2022-07-15T20:07:45.735259+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah5 has been classified as Green List (High Evidence).",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2022-07-15T20:07:19.113521+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DNAH5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 3, with or without situs inversus, MIM# 608644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2022-07-15T20:06:19.145068+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHST14 as ready",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2022-07-15T20:06:19.136737+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chst14 has been classified as Red List (Low Evidence).",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2022-07-15T20:06:16.142666+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHST14 were changed from Atrial septal defect; Coarctation of the aorta to Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2022-07-15T20:05:40.257290+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHST14 as Red List (low evidence)",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2022-07-15T20:05:40.245451+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chst14 has been classified as Red List (Low Evidence).",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2022-07-15T20:05:14.799531+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHST14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2022-07-15T20:04:15.702426+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFC1 as ready",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2022-07-15T20:04:15.690523+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfc1 has been classified as Green List (High Evidence).",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2022-07-15T20:04:13.472524+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFC1 were changed from Atrioventricular septal defect; Interrupted aortic arch; Tetralogy of fallot; Transposition of the great arteries; Truncus arteriosus; Double outlet right ventricle; Heterotaxy to Heterotaxy, visceral, 2, MIM# 605376",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2022-07-15T20:03:47.279613+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CFC1 were set to ",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2022-07-15T20:03:21.666461+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFC1 as Green List (high evidence)",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2022-07-15T20:03:21.653405+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfc1 has been classified as Green List (High Evidence).",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2022-07-15T20:02:53.153978+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CFC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31633655, 18162845, 25423076, 11062482; Phenotypes: Heterotaxy, visceral, 2, MIM# 605376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2022-07-15T19:59:59.284532+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: CNGA3.",
"entity_name": "CNGA3",
"entity_type": "gene"
},
{
"created": "2022-07-15T19:59:22.062921+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: F2.",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2022-07-15T19:58:54.669492+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: F5.",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2022-07-15T19:58:27.291831+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: F9.",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2022-07-15T19:57:44.226415+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITGA6 as ready",
"entity_name": "ITGA6",
"entity_type": "gene"
},
{
"created": "2022-07-15T19:57:44.207847+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itga6 has been classified as Green List (High Evidence).",
"entity_name": "ITGA6",
"entity_type": "gene"
},
{
"created": "2022-07-15T19:57:40.494966+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITGA6 were set to ",
"entity_name": "ITGA6",
"entity_type": "gene"
},
{
"created": "2022-07-15T19:57:02.148150+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: PDHA1.",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2022-07-15T18:09:30.920166+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.31",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33528536, 30542205; Phenotypes: Developmental and epileptic encephalopathy 99 (MIM# 619606); Mode of inheritance: None",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2022-07-15T14:50:16.060295+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.219",
"user_name": "Chloe Stutterd",
"item_type": "entity",
"text": "gene: ESCO2 was added\ngene: ESCO2 was added to Congenital Heart Defect. Sources: Expert list,Literature\nMode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ESCO2 were set to 19574259; 31976146\nPhenotypes for gene: ESCO2 were set to Atrial septal defect; Ventricular septal defect; Pulmonic stenosis; tricuspid regurgitation\nPenetrance for gene: ESCO2 were set to Complete\nReview for gene: ESCO2 was set to GREEN\ngene: ESCO2 was marked as current diagnostic\nAdded comment: CHD reported in 8/31 patients with molecularly-confirmed Roberts syndrome (PMID 19574259). Septal defect and tricuspid regurgitation reported in one patient with molecularly-confirmed Roberts syndrome (PMID:31976146). \nSources: Expert list, Literature",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2022-07-15T14:40:43.274363+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.49",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: RYR1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Central core disease (MIM#117000), Minicore myopathy with external ophthalmoplegia (MIM#255320), Neuromuscular disease, congenital, with uniform type 1 fiber (MIM#117000); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2022-07-15T14:03:43.541373+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.219",
"user_name": "Chloe Stutterd",
"item_type": "entity",
"text": "gene: EP300 was added\ngene: EP300 was added to Congenital Heart Defect. Sources: Expert list,Literature\nMode of inheritance for gene: EP300 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EP300 were set to 24352918; 24476420\nPhenotypes for gene: EP300 were set to Ventricular septal defect; Patent foramen ovale; Patent ductus arteriosus; mild valve dysplasia\nPenetrance for gene: EP300 were set to unknown\nReview for gene: EP300 was set to AMBER\ngene: EP300 was marked as current diagnostic\nAdded comment: Included in Victor Chang CHD gene list. Mice homozygotes for targeted null mutations have CHD (MGI ID: 1276116). Five patients reported with with CHD (VSD, PFO, PDA, valve dysplasia), all with extra-cardiac features of Rubinstein–Taybi syndrome (24352918; 24476420). \nSources: Expert list, Literature",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2022-07-15T13:33:15.264042+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.219",
"user_name": "Chloe Stutterd",
"item_type": "entity",
"text": "gene: DNAH5 was added\ngene: DNAH5 was added to Congenital Heart Defect. Sources: Expert list,Literature\nMode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAH5 were set to 31638833\nPhenotypes for gene: DNAH5 were set to Atrial septal defect; Ventricular septal defect; Atrioventricular septal defect; Transposition of the great arteries\nPenetrance for gene: DNAH5 were set to unknown\nReview for gene: DNAH5 was set to AMBER\ngene: DNAH5 was marked as current diagnostic\nAdded comment: Gene included in Victor Chang CHD gene list but all references to CHD are in association with heterotaxy. PMID 31638833: 8/132 (6.1%) patients with DNAH5-associated primary ciliary dyskinesia presented with CHD (septal defects with or without valve and vessel defects) and all had heterotaxy (three with situs solitus and five had situs inversus). \nSources: Expert list, Literature",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2022-07-15T12:50:23.925051+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.219",
"user_name": "Chloe Stutterd",
"item_type": "entity",
"text": "gene: CHST14 was added\ngene: CHST14 was added to Congenital Heart Defect. Sources: Expert list,Literature\nMode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHST14 were set to 20503305\nPhenotypes for gene: CHST14 were set to Atrial septal defect; Coarctation of the aorta\nPenetrance for gene: CHST14 were set to unknown\nReview for gene: CHST14 was set to RED\nAdded comment: Gene included in Victor Chang CHD gene list however evidence does not exist for causality of significant or isolated CHD and only reported in association with the EDS phenotype. PMID 20503305 reports one patient with EDS and moderate tricuspid valve regurgitation, prolapse of the tricuspid and mitral valves, and left-to-right shunt via a small atrial septal defect, and two patients with valvular regurgitation diagnosed in adulthood in association with the EDS phenotype. \nSources: Expert list, Literature",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2022-07-15T12:20:07.936142+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.219",
"user_name": "Chloe Stutterd",
"item_type": "entity",
"text": "gene: CFC1 was added\ngene: CFC1 was added to Congenital Heart Defect. Sources: Expert list,Literature\nMode of inheritance for gene: CFC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CFC1 were set to Atrioventricular septal defect; Interrupted aortic arch; Tetralogy of fallot; Transposition of the great arteries; Truncus arteriosus; Double outlet right ventricle; Heterotaxy\nPenetrance for gene: CFC1 were set to unknown\nReview for gene: CFC1 was set to RED\nAdded comment: Strong evidence for causality of heterotaxy syndromes with congenital cardiac malformations (11062482), however investigation of CFC1 as a cause of isolated CHD identified only the polymorphism R78W or the A145T variant which was also present in controls (11799476; 17072672). \nSources: Expert list, Literature",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2022-07-15T11:20:15.388234+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.49",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: CNGA3: Rating: RED; Mode of pathogenicity: None; Publications: 11536077, 35332618; Phenotypes: Achromatopsia 2 (MIM#216900); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CNGA3",
"entity_type": "gene"
},
{
"created": "2022-07-15T11:09:23.029431+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.49",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: F2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Dysprothrombinemia (MIM#613679), Hypoprothrombinemia (MIM#613679); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2022-07-15T10:51:52.117731+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.49",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: F5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Factor V deficiency (MIM#227400); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "F5",
"entity_type": "gene"
},
{
"created": "2022-07-15T10:48:11.667896+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.49",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: F9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemophilia B (MIM#306900); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2022-07-15T10:28:30.289171+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C9orf84 as ready",
"entity_name": "C9orf84",
"entity_type": "gene"
},
{
"created": "2022-07-15T10:28:30.279699+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c9orf84 has been classified as Green List (High Evidence).",
"entity_name": "C9orf84",
"entity_type": "gene"
},
{
"created": "2022-07-15T10:28:21.255052+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C9orf84 as Green List (high evidence)",
"entity_name": "C9orf84",
"entity_type": "gene"
},
{
"created": "2022-07-15T10:28:21.246060+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c9orf84 has been classified as Green List (High Evidence).",
"entity_name": "C9orf84",
"entity_type": "gene"
},
{
"created": "2022-07-15T10:27:59.840050+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: C9orf84.",
"entity_name": "C9orf84",
"entity_type": "gene"
},
{
"created": "2022-07-15T10:27:48.051340+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 8 families reported with bi-allelic variants in this gene and spermatogenic failure. \nSources: Literature; to: 8 families reported with bi-allelic variants in this gene and spermatogenic failure. A male germ cell-specific Shoc1 knockout mouse model recapitulates the phenotype (germline knockout: early lethality).\r\n\r\nHGNC approved name is SHOC1.\r\n\r\nSources: Literature",
"entity_name": "C9orf84",
"entity_type": "gene"
},
{
"created": "2022-07-15T10:26:41.413317+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C9orf84 was added\ngene: C9orf84 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: C9orf84 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C9orf84 were set to 32741963; 32900840; 35485979\nPhenotypes for gene: C9orf84 were set to Spermatogenic failure 75, MIM#\t619949\nReview for gene: C9orf84 was set to GREEN\nAdded comment: 8 families reported with bi-allelic variants in this gene and spermatogenic failure. \nSources: Literature",
"entity_name": "C9orf84",
"entity_type": "gene"
},
{
"created": "2022-07-15T10:15:45.708718+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HIST1H4E were changed from Neurodevelopmental disorder, HIST1H4E-related MONDO:0700092 to Tessadori-van Haaften neurodevelopmental syndrome 3, MIM# 619950",
"entity_name": "HIST1H4E",
"entity_type": "gene"
},
{
"created": "2022-07-15T10:15:04.918729+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HIST1H4E was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HIST1H4E",
"entity_type": "gene"
},
{
"created": "2022-07-15T10:14:31.426766+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HIST1H4E: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tessadori-van Haaften neurodevelopmental syndrome 3, MIM# 619950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HIST1H4E",
"entity_type": "gene"
},
{
"created": "2022-07-15T10:14:11.356609+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HIST1H4E as ready",
"entity_name": "HIST1H4E",
"entity_type": "gene"
},
{
"created": "2022-07-15T10:14:11.348597+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hist1h4e has been classified as Green List (High Evidence).",
"entity_name": "HIST1H4E",
"entity_type": "gene"
},
{
"created": "2022-07-15T10:14:01.935197+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HIST1H4E were changed from Neurodevelopmental disorder, HIST1H4E-related MONDO:0700092 to Tessadori-van Haaften neurodevelopmental syndrome 3, MIM# 619950",
"entity_name": "HIST1H4E",
"entity_type": "gene"
},
{
"created": "2022-07-15T10:13:24.054230+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HIST1H4E was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HIST1H4E",
"entity_type": "gene"
},
{
"created": "2022-07-15T10:12:58.192466+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HIST1H4E as Green List (high evidence)",
"entity_name": "HIST1H4E",
"entity_type": "gene"
},
{
"created": "2022-07-15T10:12:58.181341+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hist1h4e has been classified as Green List (High Evidence).",
"entity_name": "HIST1H4E",
"entity_type": "gene"
},
{
"created": "2022-07-15T10:12:21.144269+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: HIST1H4E.",
"entity_name": "HIST1H4E",
"entity_type": "gene"
},
{
"created": "2022-07-15T10:12:12.055782+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HIST1H4E: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tessadori-van Haaften neurodevelopmental syndrome 3, MIM# 619950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HIST1H4E",
"entity_type": "gene"
},
{
"created": "2022-07-15T10:11:47.785712+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HIST1H4E were changed from Neurodevelopmental disorder, HIST1H4E-related MONDO:0700092 to Tessadori-van Haaften neurodevelopmental syndrome 3, MIM# 619950",
"entity_name": "HIST1H4E",
"entity_type": "gene"
},
{
"created": "2022-07-15T10:11:19.034554+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: HIST1H4E.",
"entity_name": "HIST1H4E",
"entity_type": "gene"
},
{
"created": "2022-07-15T10:11:04.726109+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HIST1H4E: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tessadori-van Haaften neurodevelopmental syndrome 3, MIM# 619950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HIST1H4E",
"entity_type": "gene"
},
{
"created": "2022-07-15T10:07:45.134911+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KMT2B were changed from Dystonia 28, childhood-onset, MIM#617284 to Dystonia 28, childhood-onset 617284; MONDO:0015004; Intellectual developmental disorder, autosomal dominant 68, MIM# 619934",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2022-07-15T10:07:14.442375+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KMT2B were set to ",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2022-07-15T10:06:44.662053+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: ID described as part of the phenotype in some patients.; to: Childhood-onset dystonia: ID described as part of the phenotype in some patients.",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2022-07-15T10:06:28.096420+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KMT2B: Added comment: Nine individuals reported in PMID 33150406 with heterozygous variants in this gene and intellectual disability, speech delay, microcephaly, growth delay, feeding problems, and dysmorphic features, including epicanthic folds, posteriorly rotated ears, syndactyly/clinodactyly of toes, and fifth finger clinodactyly, normal MRIs and NO dystonia.; Changed publications: 33150406; Changed phenotypes: Dystonia 28, childhood-onset 617284, MONDO:0015004, Intellectual developmental disorder, autosomal dominant 68, MIM# 619934",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2022-07-15T10:06:11.542135+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KMT2B were set to 27839873; 27992417",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2022-07-15T10:04:42.502544+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KMT2B: Added comment: Nine individuals reported in PMID 33150406 with heterozygous variants in this gene and intellectual disability, speech delay, microcephaly, growth delay, feeding problems, and dysmorphic features, including epicanthic folds, posteriorly rotated ears, syndactyly/clinodactyly of toes, and fifth finger clinodactyly, normal MRIs and NO dystonia.; Changed publications: 27839873, 27992417, 33150406; Changed phenotypes: Dystonia 28, childhood-onset 617284, MONDO:0015004, Intellectual developmental disorder, autosomal dominant 68, MIM# 619934",
"entity_name": "KMT2B",
"entity_type": "gene"
},
{
"created": "2022-07-15T10:01:30.457937+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMAN2L were changed from ?Mental retardation, autosomal recessive, 52; OMIM #616887 to Mental retardation, autosomal recessive, 52 OMIM #616887; Intellectual developmental disorder, autosomal dominant 69 , MIM# 617863",
"entity_name": "LMAN2L",
"entity_type": "gene"
},
{
"created": "2022-07-15T10:00:43.946528+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LMAN2L: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, autosomal recessive, 52 OMIM #616887, Intellectual developmental disorder, autosomal dominant 69 , MIM# 617863; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LMAN2L",
"entity_type": "gene"
},
{
"created": "2022-07-15T10:00:20.100082+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMAN2L were changed from Mental retardation, autosomal recessive, 52; OMIM #616887 to Mental retardation, autosomal recessive, 52 OMIM #616887; Intellectual developmental disorder, autosomal dominant 69 , MIM# 617863",
"entity_name": "LMAN2L",
"entity_type": "gene"
},
{
"created": "2022-07-15T09:59:56.097512+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LMAN2L: Changed phenotypes: Mental retardation, autosomal recessive, 52 OMIM #616887, Intellectual developmental disorder, autosomal dominant 69 , MIM# 617863",
"entity_name": "LMAN2L",
"entity_type": "gene"
},
{
"created": "2022-07-15T09:58:50.301588+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CDH2: Changed phenotypes: Intellectual disability, corpus callosum abnormalities, congenital abnormalities, Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MIM# 618929, Attention deficit-hyperactivity disorder 8 , MIM# 619957",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2022-07-15T09:58:19.167946+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDH2 were changed from Intellectual disability; corpus callosum abnormalities; congenital abnormalities; Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MIM#\t618929 to Intellectual disability; corpus callosum abnormalities; congenital abnormalities; Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MIM#\t618929; Attention deficit-hyperactivity disorder 8 , MIM# 619957",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2022-07-15T09:57:41.453808+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2022-07-15T09:56:11.718337+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CDH2: Added comment: PMID 34702855: three sibs with homozygous missense and strikingly severe ADHD. Mouse model of same variant recapitulated the phenotype. AMBER for bi-allelic association (segregation and functional data).; Changed publications: 31585109, 34702855; Changed phenotypes: Intellectual disability, corpus callosum abnormalities, congenital abnormalities, Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MIM# 618929:Attention deficit-hyperactivity disorder 8 , MIM# 619957; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CDH2",
"entity_type": "gene"
},
{
"created": "2022-07-15T09:53:42.857459+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLXNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2022-07-15T09:53:28.993391+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLXNA1 were changed from Neurodevelopmental disorder with cerebral and eye anomalies to Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2022-07-15T09:52:52.521335+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLXNA1 were changed from Neurodevelopmental disorder with cerebral and eye anomalies to Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2022-07-15T09:52:20.051933+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PLXNA1: Changed phenotypes: Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2022-07-15T09:51:54.274961+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLXNA1 were changed from Neurodevelopmental disorder with cerebral and eye anomalies to Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2022-07-15T09:51:27.166182+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PLXNA1: Changed phenotypes: Dworschak-Punetha neurodevelopmental syndrome, MIM# 619955",
"entity_name": "PLXNA1",
"entity_type": "gene"
},
{
"created": "2022-07-15T09:31:04.763208+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag STR tag was added to gene: TBP.",
"entity_name": "TBP",
"entity_type": "gene"
},
{
"created": "2022-07-15T09:26:30.211328+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.49",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: ITGA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31502654, 27607025, 9158140, 34525201, 20301336; Phenotypes: Epidermolysis bullosa, junctional 6, with pyloric atresia (MIM#619817); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITGA6",
"entity_type": "gene"
},
{
"created": "2022-07-15T09:12:05.314826+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.49",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: PDHA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28584645, 22142326; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency (MIM#312170); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2022-07-14T20:49:14.499995+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAT3 as ready",
"entity_name": "ADAT3",
"entity_type": "gene"
},
{
"created": "2022-07-14T20:49:14.487983+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adat3 has been classified as Green List (High Evidence).",
"entity_name": "ADAT3",
"entity_type": "gene"
},
{
"created": "2022-07-14T20:49:07.130954+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADAT3 were changed from MIM #615286 to Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies, MIM#\t615286",
"entity_name": "ADAT3",
"entity_type": "gene"
},
{
"created": "2022-07-14T19:21:54.750038+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADAT3 as Green List (high evidence)",
"entity_name": "ADAT3",
"entity_type": "gene"
},
{
"created": "2022-07-14T19:21:54.742310+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adat3 has been classified as Green List (High Evidence).",
"entity_name": "ADAT3",
"entity_type": "gene"
},
{
"created": "2022-07-14T19:21:11.614038+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTN as ready",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2022-07-14T19:21:11.605976+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttn has been classified as Amber List (Moderate Evidence).",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2022-07-14T19:21:04.418779+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TTN as Amber List (moderate evidence)",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2022-07-14T19:21:04.407865+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttn has been classified as Amber List (Moderate Evidence).",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2022-07-14T19:20:29.225425+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VWF as ready",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2022-07-14T19:20:29.213363+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vwf has been classified as Amber List (Moderate Evidence).",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2022-07-14T19:20:24.259939+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VWF as Amber List (moderate evidence)",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2022-07-14T19:20:24.248694+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vwf has been classified as Amber List (Moderate Evidence).",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2022-07-14T19:19:45.574478+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHOX as ready",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2022-07-14T19:19:45.563395+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shox has been classified as Amber List (Moderate Evidence).",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2022-07-14T19:19:34.564398+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SHOX was changed from BIALLELIC, autosomal or pseudoautosomal to Other",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2022-07-14T19:19:20.136737+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SHOX as Amber List (moderate evidence)",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2022-07-14T19:19:20.124369+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shox has been classified as Amber List (Moderate Evidence).",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2022-07-14T19:19:11.195485+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: SHOX.",
"entity_name": "SHOX",
"entity_type": "gene"
}
]
}