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{
"count": 220212,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1388",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1386",
"results": [
{
"created": "2021-03-13T13:26:50.811166+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6673",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AIMP1 as ready",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:26:50.798133+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6673",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aimp1 has been classified as Green List (High Evidence).",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:26:18.354953+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6673",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AIMP1 were changed from to Leukodystrophy, hypomyelinating, 3, MIM# 260600",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:25:58.981354+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AIMP1 were set to ",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:25:38.323038+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AIMP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:25:13.522806+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AIMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21092922, 24958424, 33402283, 32531460, 30486714, 30477741; Phenotypes: Leukodystrophy, hypomyelinating, 3, MIM# 260600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:24:03.909494+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AIMP1 as ready",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:24:03.901378+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aimp1 has been classified as Green List (High Evidence).",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:24:01.202069+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AIMP1 were changed from Leukodystrophy, hypomyelinating, 3, autosomomal recessive, 260600 to Leukodystrophy, hypomyelinating, 3, MIM#260600",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:23:40.570323+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AIMP1 were set to ",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:23:25.925039+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AIMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21092922, 24958424, 33402283, 32531460, 30486714, 30477741; Phenotypes: Leukodystrophy, hypomyelinating, 3, MIM# 260600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:17:36.046162+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AFG3L2 as ready",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:17:36.029179+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: afg3l2 has been classified as Green List (High Evidence).",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:17:33.541308+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AFG3L2 were changed from Ataxia, spastic, 5, autosomal recessive; Spinocerebellar ataxia 28, autosomal dominant, 610246; Spastic ataxia 5, autosomal recessive to Spastic ataxia 5, autosomal recessive, MIM# 614487; Spinocerebellar ataxia 28, MIM# 610246",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:17:09.173620+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AFG3L2 were set to ",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:16:57.507870+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: AFG3L2 was changed from to Other",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2021-03-13T13:16:44.790167+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22022284, 25401298, 20208537, 20725928, 33075064, 32248051, 30910913; Phenotypes: Spastic ataxia 5, autosomal recessive, MIM# 614487, Spinocerebellar ataxia 28, MIM# 610246; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "AFG3L2",
"entity_type": "gene"
},
{
"created": "2021-03-12T21:45:29.123695+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MMACHC as ready",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2021-03-12T21:45:29.113230+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmachc has been classified as Green List (High Evidence).",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2021-03-12T20:51:07.982485+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBA1 were set to 18179898; 32181232; 31932168; 29034082; 27699224; 26028276; 23518311; 33108101",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2021-03-12T20:50:43.983874+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6669",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UBA1: Changed publications: 33690815; Changed phenotypes: VEXAS syndrome, somatic, MIM# 301054",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2021-03-12T20:49:58.607533+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6669",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: UBA1.",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2021-03-12T20:36:41.224673+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HTRA1 as ready",
"entity_name": "HTRA1",
"entity_type": "gene"
},
{
"created": "2021-03-12T20:36:41.216621+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: htra1 has been classified as Green List (High Evidence).",
"entity_name": "HTRA1",
"entity_type": "gene"
},
{
"created": "2021-03-12T20:36:37.879870+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HTRA1 were changed from Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 to CARASIL syndrome, MIM# 600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, MIM# 616779",
"entity_name": "HTRA1",
"entity_type": "gene"
},
{
"created": "2021-03-12T20:36:05.837319+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HTRA1 were set to ",
"entity_name": "HTRA1",
"entity_type": "gene"
},
{
"created": "2021-03-12T20:35:51.890602+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HTRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19387015, 26063658; Phenotypes: CARASIL syndrome, MIM# 600142, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, MIM# 616779; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HTRA1",
"entity_type": "gene"
},
{
"created": "2021-03-12T20:31:10.121199+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLA as ready",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2021-03-12T20:31:10.108310+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gla has been classified as Green List (High Evidence).",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2021-03-12T20:31:04.706283+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLA were changed from Fabry disease to Fabry disease, MIM# 301500, MONDO:0010526",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2021-03-12T18:01:45.593613+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fabry disease, MIM# 301500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2021-03-12T17:56:52.621917+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FLNA as ready",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-03-12T17:56:52.610815+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flna has been classified as Amber List (Moderate Evidence).",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-03-12T17:56:49.982810+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FLNA were changed from Periventricular nodular heterotopia 1 to Heterotopia, periventricular, 1 , MIM#300049; Melnick-Needles syndrome 30, MIM#9350",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-03-12T17:56:39.243917+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FLNA were set to ",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-03-12T17:56:16.004314+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FLNA was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to Other",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-03-12T17:56:06.712132+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FLNA as Amber List (moderate evidence)",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-03-12T17:56:06.692053+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flna has been classified as Amber List (Moderate Evidence).",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-03-12T17:55:57.872885+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FLNA: Added comment: XLD. Stroke is said to be a feature of PVNH in OMIM but few documented reports found.; Changed rating: AMBER; Changed phenotypes: Heterotopia, periventricular, 1 , MIM#300049, Melnick-Needles syndrome 30, MIM#9350; Changed mode of inheritance: Other",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-03-12T17:49:33.180574+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FLNA: Rating: ; Mode of pathogenicity: None; Publications: 21031081; Phenotypes: ; Mode of inheritance: None",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-03-12T10:11:23.903879+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6669",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DSG3 were changed from Mucosal blistering to Blistering, acantholytic, of oral and laryngeal mucosa, MIM# 619226",
"entity_name": "DSG3",
"entity_type": "gene"
},
{
"created": "2021-03-12T10:11:03.374482+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DSG3: Changed phenotypes: Blistering, acantholytic, of oral and laryngeal mucosa, MIM# 619226",
"entity_name": "DSG3",
"entity_type": "gene"
},
{
"created": "2021-03-12T10:10:29.572152+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DSG3 were changed from Mucosal blistering to Blistering, acantholytic, of oral and laryngeal mucosa, MIM# 619226",
"entity_name": "DSG3",
"entity_type": "gene"
},
{
"created": "2021-03-12T10:09:55.602379+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DSG3: Changed phenotypes: Blistering, acantholytic, of oral and laryngeal mucosa, MIM# 619226",
"entity_name": "DSG3",
"entity_type": "gene"
},
{
"created": "2021-03-12T10:08:04.378815+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WBP11 as ready",
"entity_name": "WBP11",
"entity_type": "gene"
},
{
"created": "2021-03-12T10:08:04.368431+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wbp11 has been classified as Green List (High Evidence).",
"entity_name": "WBP11",
"entity_type": "gene"
},
{
"created": "2021-03-12T10:08:00.255371+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WBP11 as Green List (high evidence)",
"entity_name": "WBP11",
"entity_type": "gene"
},
{
"created": "2021-03-12T10:08:00.244568+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wbp11 has been classified as Green List (High Evidence).",
"entity_name": "WBP11",
"entity_type": "gene"
},
{
"created": "2021-03-12T10:07:27.414225+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WBP11 was added\ngene: WBP11 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: WBP11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WBP11 were set to 33276377\nPhenotypes for gene: WBP11 were set to Vertebral, cardiac, tracheoesophageal, renal, and limb defects, MIM# 619227\nReview for gene: WBP11 was set to GREEN\nAdded comment: PMID: 33276377 - Martin et al 2020 - report 13 affected individuals from 7 unrelated families identified through various different cohort analysis (vertebral malformation, renal hypodysplasia, syndromic esophageal atresia, multiple congenital anomalies) in whom a WBP11 heterozygous variant is considered the top causative candidate. 5 identified variants were predicted to be protein truncating whilst the 6th was a missense variant. All variants are absent from population databases. In family 1, the variant was inherited from the apparently unaffected mother, indicating reduced penetrance, and phenotypic variance within families was observed. Phenotypes covered cardiac, vertebral, renal, craniofacial and gastrointestinal systems. At least at least 5 of the patients affected had features in three component organs so can be considered a VACTERL association. Wbp11 heterozygous null mice had vertebral and renal anomalies. \nSources: Literature",
"entity_name": "WBP11",
"entity_type": "gene"
},
{
"created": "2021-03-12T10:05:16.784608+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WBP11 were changed from malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems to Vertebral, cardiac, tracheoesophageal, renal, and limb defects, MIM# 619227; malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems",
"entity_name": "WBP11",
"entity_type": "gene"
},
{
"created": "2021-03-12T10:04:50.847160+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WBP11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Vertebral, cardiac, tracheoesophageal, renal, and limb defects, MIM# 619227; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "WBP11",
"entity_type": "gene"
},
{
"created": "2021-03-12T10:04:12.328216+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WBP11 were changed from malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems to Vertebral, cardiac, tracheoesophageal, renal, and limb defects, MIM#\t619227; malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems",
"entity_name": "WBP11",
"entity_type": "gene"
},
{
"created": "2021-03-12T10:03:35.454628+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: WBP11: Changed phenotypes: Vertebral, cardiac, tracheoesophageal, renal, and limb defects, MIM# 619227, malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems",
"entity_name": "WBP11",
"entity_type": "gene"
},
{
"created": "2021-03-11T18:46:39.916623+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ENG as ready",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2021-03-11T18:46:39.907215+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eng has been classified as Green List (High Evidence).",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2021-03-11T18:46:29.852549+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 1, MIM# 187300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2021-03-11T18:45:42.312506+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL4A1 as ready",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2021-03-11T18:45:42.301640+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a1 has been classified as Green List (High Evidence).",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2021-03-11T18:45:34.009413+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A1 were changed from Brain small vessel disease with or without ocular anomalies; Brain Small Vessel Disease with Hemorrhage to Brain small vessel disease with or without ocular anomalies MIM#175780; Brain Small Vessel Disease with Hemorrhage",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2021-03-11T18:45:18.208696+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COL4A1: Changed phenotypes: Brain small vessel disease with or without ocular anomalies MIM#175780, Brain Small Vessel Disease with Hemorrhage",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2021-03-11T18:44:44.308029+11:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2021-03-11T18:11:54.191068+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CC2D1A as ready",
"entity_name": "CC2D1A",
"entity_type": "gene"
},
{
"created": "2021-03-11T18:11:54.179769+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cc2d1a has been classified as Green List (High Evidence).",
"entity_name": "CC2D1A",
"entity_type": "gene"
},
{
"created": "2021-03-11T18:11:46.689070+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CC2D1A were changed from to Autosomal recessive mental retardation, (MIM#608443)",
"entity_name": "CC2D1A",
"entity_type": "gene"
},
{
"created": "2021-03-11T18:11:26.307870+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CC2D1A were set to ",
"entity_name": "CC2D1A",
"entity_type": "gene"
},
{
"created": "2021-03-11T18:11:06.271764+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CC2D1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CC2D1A",
"entity_type": "gene"
},
{
"created": "2021-03-11T18:10:33.927014+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CC2D1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25066123; Phenotypes: Autosomal recessive mental retardation, (MIM#608443); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CC2D1A",
"entity_type": "gene"
},
{
"created": "2021-03-11T18:09:23.358803+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZAP70 as ready",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2021-03-11T18:09:23.348335+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zap70 has been classified as Green List (High Evidence).",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2021-03-11T18:09:07.400094+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZAP70 were changed from to Immunodeficiency 48, MIM# 269840; Autoimmune disease, multisystem, infantile-onset, 2, MIM# 617006",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2021-03-11T18:08:42.179758+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CC2D1A as ready",
"entity_name": "CC2D1A",
"entity_type": "gene"
},
{
"created": "2021-03-11T18:08:42.170004+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cc2d1a has been classified as Green List (High Evidence).",
"entity_name": "CC2D1A",
"entity_type": "gene"
},
{
"created": "2021-03-11T18:08:32.130127+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CC2D1A were changed from to Autosomal recessive mental retardation, (MIM#608443)",
"entity_name": "CC2D1A",
"entity_type": "gene"
},
{
"created": "2021-03-11T18:07:59.812632+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CC2D1A were set to ",
"entity_name": "CC2D1A",
"entity_type": "gene"
},
{
"created": "2021-03-11T18:07:28.223358+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CC2D1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CC2D1A",
"entity_type": "gene"
},
{
"created": "2021-03-11T18:01:36.388821+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZAP70 were set to ",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2021-03-11T18:01:05.074071+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ZAP70: Changed publications: 8124727, 8202712, 11412303, 26783323, 33628209, 33531381",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2021-03-11T18:01:04.407521+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZAP70 were set to ",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2021-03-11T18:00:37.188375+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: ZAP70 was changed from to Other",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2021-03-11T18:00:22.633116+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZAP70 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2021-03-11T18:00:03.743268+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZAP70: Rating: GREEN; Mode of pathogenicity: Other; Publications: 8124727, 8202712, 11412303, 26783323, 33628209, 33531381; Phenotypes: Immunodeficiency 48, MIM# 269840, Autoimmune disease, multisystem, infantile-onset, 2, MIM# 617006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2021-03-11T17:56:14.296953+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ZAP70: Changed rating: RED",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2021-03-11T15:41:20.686363+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6660",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: GDF5: Rating: RED; Mode of pathogenicity: None; Publications: 8589725, 33333243; Phenotypes: ? Hunter-Thompson type acromesomelic dysplasia (MIM#201250) AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GDF5",
"entity_type": "gene"
},
{
"created": "2021-03-11T15:21:48.352479+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3488",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "edited their review of gene: CC2D1A: Added comment: 7 NMD predicted reported, no missense (ClinVar, Decipher, LOVD, PMID: 25066123). Severity of ID and presence of cognitive and social features, as well as seizures is variable inter and intra-familial (PMID: 25066123).; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CC2D1A",
"entity_type": "gene"
},
{
"created": "2021-03-11T15:08:23.745690+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3488",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: CC2D1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25066123; Phenotypes: Autosomal recessive mental retardation, (MIM#608443), AR; Mode of inheritance: None",
"entity_name": "CC2D1A",
"entity_type": "gene"
},
{
"created": "2021-03-11T11:59:09.680822+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZAP70 as ready",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2021-03-11T11:59:09.674917+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Single family.",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2021-03-11T11:59:09.628421+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zap70 has been classified as Red List (Low Evidence).",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2021-03-11T11:59:00.931487+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZAP70 as Red List (low evidence)",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2021-03-11T11:59:00.922513+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zap70 has been classified as Red List (Low Evidence).",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2021-03-10T21:39:54.986986+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.47",
"user_name": "Lavvina Thiyagarajan",
"item_type": "entity",
"text": "gene: ZAP70 was added\ngene: ZAP70 was added to Inflammatory bowel disease. Sources: Other\nMode of inheritance for gene: ZAP70 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZAP70 were set to 26783323\nPhenotypes for gene: ZAP70 were set to Autoimmune disease, multisystem, infantile-onset, 2; inflammatory colitis\nPenetrance for gene: ZAP70 were set to Complete\nReview for gene: ZAP70 was set to AMBER\nAdded comment: 1 family described - 2 siblings of unrelated Caucasian parents with clinical findings and compound heterozygous missense mutations in ZAP70. \nSources: Other",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2021-03-10T21:25:34.982479+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.47",
"user_name": "Lavvina Thiyagarajan",
"item_type": "entity",
"text": "reviewed gene: NOD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 32463623; Phenotypes: Inflammatory bowel disease, Crohn's disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NOD2",
"entity_type": "gene"
},
{
"created": "2021-03-10T21:11:04.291336+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CST3 as Amber List (moderate evidence)",
"entity_name": "CST3",
"entity_type": "gene"
},
{
"created": "2021-03-10T21:11:04.282275+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cst3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CST3",
"entity_type": "gene"
},
{
"created": "2021-03-10T21:10:35.486159+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: CST3.",
"entity_name": "CST3",
"entity_type": "gene"
},
{
"created": "2021-03-10T21:10:27.067601+11:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CST3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CST3",
"entity_type": "gene"
},
{
"created": "2021-03-10T21:06:43.370556+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CST3 as ready",
"entity_name": "CST3",
"entity_type": "gene"
},
{
"created": "2021-03-10T21:06:43.359563+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cst3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CST3",
"entity_type": "gene"
},
{
"created": "2021-03-10T21:06:36.115683+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CST3 were changed from to Cerebral amyloid angiopathy, MIM# 105150",
"entity_name": "CST3",
"entity_type": "gene"
},
{
"created": "2021-03-10T21:06:13.431267+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CST3 were set to ",
"entity_name": "CST3",
"entity_type": "gene"
}
]
}