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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1087",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1085",
"results": [
{
"created": "2021-12-13T16:11:54.558548+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1241",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: FAT4: Rating: GREEN; Mode of pathogenicity: None; Publications: 29681106; Phenotypes: Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006, Van Maldergem syndrome 2 MIM#615546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2021-12-13T15:43:49.912846+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1241",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: FBXL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940506; Phenotypes: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2021-12-13T15:43:48.250093+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10207",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: FBXL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940506; Phenotypes: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FBXL4",
"entity_type": "gene"
},
{
"created": "2021-12-13T15:27:50.146322+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1241",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: ERCC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 2167179, 10447254, 16947863, 9012405, 32557569, 27004399; Phenotypes: Xeroderma pigmentosum, group B 61, MIM#0651, Trichothiodystrophy 2, photosensitive, MIM# 616390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2021-12-13T15:11:35.120082+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1241",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: FGF8: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301509; Phenotypes: Hypogonadotropic hypogonadism 6 with or without anosmia MIM#612702; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2021-12-13T14:55:43.719009+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1241",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: FKBP14: Rating: AMBER; Mode of pathogenicity: None; Publications: 22265013, 24773188, 27149304, 31132235, 30561154, 28617417; Phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 2, MIM# 614557; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FKBP14",
"entity_type": "gene"
},
{
"created": "2021-12-13T14:50:31.653451+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1241",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: FOXE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9697705, 12165566, 16882747, 24219130, 20484477; Phenotypes: Bamforth-Lazarus syndrome, MIM# 241850, MONDO:0009437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FOXE1",
"entity_type": "gene"
},
{
"created": "2021-12-13T14:47:35.379994+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1241",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: FOXF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19500772, 23505205; Phenotypes: Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "FOXF1",
"entity_type": "gene"
},
{
"created": "2021-12-13T14:42:50.749903+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1241",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: FOXG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28661489; Phenotypes: Rett syndrome, congenital variant MIM#613454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2021-12-13T14:21:16.933902+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBE4A as ready",
"entity_name": "UBE4A",
"entity_type": "gene"
},
{
"created": "2021-12-13T14:21:16.923256+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube4a has been classified as Green List (High Evidence).",
"entity_name": "UBE4A",
"entity_type": "gene"
},
{
"created": "2021-12-13T14:21:06.684595+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBE4A were changed from Intellectual disability and global developmental delay to Neurodevelopmental disorder with hypotonia and gross motor and seech delay, MIM# 619639",
"entity_name": "UBE4A",
"entity_type": "gene"
},
{
"created": "2021-12-13T14:20:27.968429+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UBE4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with hypotonia and gross motor and seech delay, MIM# 619639; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UBE4A",
"entity_type": "gene"
},
{
"created": "2021-12-13T14:20:07.402169+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBE4A were changed from Intellectual disability and global developmental delay to Neurodevelopmental disorder with hypotonia and gross motor and seech delay, MIM# 619639",
"entity_name": "UBE4A",
"entity_type": "gene"
},
{
"created": "2021-12-13T14:19:35.450171+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UBE4A: Changed phenotypes: Neurodevelopmental disorder with hypotonia and gross motor and seech delay, MIM# 619639",
"entity_name": "UBE4A",
"entity_type": "gene"
},
{
"created": "2021-12-13T14:14:57.413495+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1241",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: FOXRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33613441; Phenotypes: Mitochondrial complex I deficiency, nuclear type 19 MIM#618241; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FOXRED1",
"entity_type": "gene"
},
{
"created": "2021-12-13T14:14:53.493105+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10206",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: FOXRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33613441; Phenotypes: Mitochondrial complex I deficiency, nuclear type 19 MIM#618241; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "FOXRED1",
"entity_type": "gene"
},
{
"created": "2021-12-13T14:06:38.165297+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10206",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: FREM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15838507, 18203166, 29688405, 33082983; Phenotypes: Cryptophthalmos, unilateral or bilateral, isolated MIM#123570, Fraser syndrome 2 MIM#617666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FREM2",
"entity_type": "gene"
},
{
"created": "2021-12-13T14:06:16.378065+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1241",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: FREM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15838507, 18203166, 29688405, 33082983; Phenotypes: Cryptophthalmos, unilateral or bilateral, isolated MIM#123570, Fraser syndrome 2 MIM#617666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FREM2",
"entity_type": "gene"
},
{
"created": "2021-12-13T14:02:49.978165+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZNFX1 were changed from Multisystem inflammation; susceptibility to viral infections to Immunodeficiency 91 and hyperinflammation, MIM# 619644",
"entity_name": "ZNFX1",
"entity_type": "gene"
},
{
"created": "2021-12-13T14:02:17.715219+11:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ZNFX1: Changed phenotypes: Immunodeficiency 91 and hyperinflammation, MIM# 619644",
"entity_name": "ZNFX1",
"entity_type": "gene"
},
{
"created": "2021-12-13T14:02:05.637012+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZNFX1 were changed from Multisystem inflammation; susceptibility to viral infections to Immunodeficiency 91 and hyperinflammation, MIM# 619644",
"entity_name": "ZNFX1",
"entity_type": "gene"
},
{
"created": "2021-12-13T14:01:32.628651+11:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ZNFX1: Changed phenotypes: Immunodeficiency 91 and hyperinflammation, MIM# 619644",
"entity_name": "ZNFX1",
"entity_type": "gene"
},
{
"created": "2021-12-13T14:00:30.069252+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZNFX1 were changed from Multisystem inflammation; susceptibility to viral infections; monocytosis; susceptibility to mycobacterial infection to Immunodeficiency 91 and hyperinflammation, MIM# 619644",
"entity_name": "ZNFX1",
"entity_type": "gene"
},
{
"created": "2021-12-13T14:00:06.008214+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ZNFX1: Changed phenotypes: Immunodeficiency 91 and hyperinflammation, MIM# 619644",
"entity_name": "ZNFX1",
"entity_type": "gene"
},
{
"created": "2021-12-13T13:52:13.026132+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMAD2 were changed from Aortic and arterial aneurysmal disease; connective tissue disease; congenital heart disease to Loeys-Dietz syndrome 6, MIM# 619656; Congenital heart defects, multiple types, 8, with or without heterotaxy, MIM# 619657",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2021-12-13T13:51:59.396237+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SMAD2: Changed phenotypes: Loeys-Dietz syndrome 6, MIM# 619656, Congenital heart defects, multiple types, 8, with or without heterotaxy, MIM# 619657",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2021-12-13T13:51:44.296639+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMAD2 were changed from Aortic and arterial aneurysmal disease; connective tissue disease; congenital heart disease to Loeys-Dietz syndrome 6, MIM# 619656; Congenital heart defects, multiple types, 8, with or without heterotaxy, MIM# 619657",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2021-12-13T13:51:12.693153+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SMAD2: Changed phenotypes: Loeys-Dietz syndrome 6, MIM# 619656, Congenital heart defects, multiple types, 8, with or without heterotaxy, MIM# 619657",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2021-12-13T13:50:52.492992+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1240",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease II MIM#232300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2021-12-13T13:50:29.155082+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMAD2 were changed from Aortic and arterial aneurysmal disease; connective tissue disease; congenital heart disease to Loeys-Dietz syndrome 6, MIM# 619656; Congenital heart defects, multiple types, 8, with or without heterotaxy, MIM# 619657",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2021-12-13T13:50:04.002520+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMAD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 6, MIM# 619656, Congenital heart defects, multiple types, 8, with or without heterotaxy, MIM# 619657; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2021-12-13T13:49:28.595992+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMAD2 were changed from Aortic and arterial aneurysmal disease; connective tissue disease to Loeys-Dietz syndrome 6, MIM# 619656",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2021-12-13T13:48:53.887293+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SMAD2: Changed phenotypes: Loeys-Dietz syndrome 6, MIM# 619656",
"entity_name": "SMAD2",
"entity_type": "gene"
},
{
"created": "2021-12-13T13:14:05.788269+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1240",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: NPR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 15146390, 31990356, 30602027, 24001744, 24057292; Phenotypes: Acromesomelic dysplasia 1, Maroteaux type (MIM#602875), Epiphyseal chondrodysplasia, Miura type (MIM#615923), Short stature with nonspecific skeletal abnormalities (MIM#616255); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "NPR2",
"entity_type": "gene"
},
{
"created": "2021-12-13T13:05:57.593063+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1240",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GALE: Rating: GREEN; Mode of pathogenicity: None; Publications: 21290786; Phenotypes: Galactose epimerase deficiency MIM#230350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2021-12-13T13:00:55.492552+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1240",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GALK1: Rating: RED; Mode of pathogenicity: None; Publications: 27604308, 5129682; Phenotypes: Galactokinase deficiency with cataracts MIM#230200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GALK1",
"entity_type": "gene"
},
{
"created": "2021-12-13T12:58:25.560039+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1240",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GALNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9298823; Phenotypes: Mucopolysaccharidosis IVA, MIM# 253000, MONDO:0009659; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2021-12-13T12:56:56.834584+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1240",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12845333, 18055909, 15689439, 33413087, 30455927; Phenotypes: Atrial septal defect 2 MIM#607941, Atrioventricular septal defect 4 MIM#614430, Ventricular septal defect 1 MIM#614429; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2021-12-13T12:56:53.836726+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10204",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GATA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12845333, 18055909, 15689439, 33413087, 30455927; Phenotypes: Atrial septal defect 2 MIM#607941, Atrioventricular septal defect 4 MIM#614430, Ventricular septal defect 1 MIM#614429; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2021-12-13T12:25:46.870461+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1240",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: NPHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10577936, 17413422; Phenotypes: Nephrotic syndrome, type 1 (MIM#256300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPHS1",
"entity_type": "gene"
},
{
"created": "2021-12-13T12:04:19.659918+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10204",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: NPC1 was added\ngene: NPC1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NPC1 were set to 12408188; 9211849\nPhenotypes for gene: NPC1 were set to Niemann-Pick disease, type C1/ type D (MIM#257220)\nReview for gene: NPC1 was set to GREEN\nAdded comment: Biallelic NPC1 variants cause Niemann-Pick disease, type C1/ type D. Prenatal manifestation: hydrops fetalis. \nSources: Literature",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2021-12-13T12:03:35.929698+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1240",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "edited their review of gene: NPC1: Changed publications: 12408188, 9211849",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2021-12-13T11:59:33.602429+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1240",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12408188, 12408188; Phenotypes: Niemann-Pick disease, type C1/ type D (MIM#257220); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2021-12-13T11:40:02.925897+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1240",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16773578, 21378985, 21378989; Phenotypes: Alagille syndrome 2 (MIM#610205), Hajdu-Cheney syndrome (MIM#102500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2021-12-13T11:21:04.708427+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1240",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 31536184; Phenotypes: Glutaricaciduria, type I MIM#231670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "GCDH",
"entity_type": "gene"
},
{
"created": "2021-12-13T11:19:27.320297+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1240",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25963545, 25132448; Phenotypes: Adams-Oliver syndrome 5 (MIM#616028); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2021-12-13T11:06:32.285997+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10204",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: COMT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "COMT",
"entity_type": "gene"
},
{
"created": "2021-12-13T10:45:30.942174+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1240",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: NOG: Rating: AMBER; Mode of pathogenicity: None; Publications: 11846737, 18440889, 12089654, 10080184, 15066478, 22088931, 17381491; Phenotypes: Brachydactyly, type B2 (MIM#611377), Multiple synostoses syndrome 1 (MIM#186500), Stapes ankylosis with broad thumbs and toes (MIM#184460), Symphalangism, proximal, 1A (MIM#185800), Tarsal-carpal coalition syndrome (MIM#186570); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2021-12-13T10:02:48.180494+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1240",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: NKX3-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20004766, 29704686; Phenotypes: Spondylo-megaepiphyseal-metaphyseal dysplasia (MIM#613330); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NKX3-2",
"entity_type": "gene"
},
{
"created": "2021-12-12T23:47:24.794047+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10204",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: KCND2 was added\ngene: KCND2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KCND2 were set to 24501278; 16934482; 29581270; 34245260\nPhenotypes for gene: KCND2 were set to global developmental delay, HP:0001263; seizure, HP:0001250\nMode of pathogenicity for gene: KCND2 was set to Other\nReview for gene: KCND2 was set to GREEN\nAdded comment: 6 new unrelated cases with developmental delay reported in PMID: 34245260 (Zhang et al 2021), 3 of whom had seizures. All had heterozygous missense variants of KCND2 in sites known to be critical for channel gating (E323K, P403A, two individuals, V404L, two individuals and V404M). Functional studies suggest that these missense changes cause both a partial loss-of-function (LOF) and gain-of-function (GOF). The V404 change appears to increase epileptic seizure susceptibility with the 3 patients with a V404 change showing this phenotype.\r\n\r\nPMID:24501278 - Lee et al, 2014 - reports pair of monozygotic twin boys with infantile onset severe refractory epilepsy and autism. A de novo heterozygous missense variant was identified by WES - V404M. \r\n\r\nPMID: 29581270 - Lin et al, 2018 - performed functional work that shows V404M enhances inactivation of channels that have not yet opened and dramatically impairs the inactivation of channels that have opened.\r\n\r\nPMID:16934482 - Singh et al, 2006 - reports a patient with cognative impairment who also went on to have seizures starting from age 13 with a 5 bp deletion in KCND2 leading to premature stop codon. The proband's asymptomatic father also shared this variant. \nSources: Literature",
"entity_name": "KCND2",
"entity_type": "gene"
},
{
"created": "2021-12-12T21:01:38.538055+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2B2 as ready",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2021-12-12T21:01:38.525927+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2b2 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2021-12-12T21:01:31.650710+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF2B2 were changed from to Leukoencephalopathy with vanishing white matter, MIM#603896; Ovarioleukodystrophy, MIM# 603896",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2021-12-12T21:01:14.999687+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EIF2B2 were set to ",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2021-12-12T21:00:57.153557+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EIF2B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2021-12-12T21:00:39.279798+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple families reported, marked phenotypic variability.; to: Multiple families reported, marked phenotypic variability, age of onset from infancy to adulthood.",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2021-12-12T21:00:10.590715+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21484434, 14566705, 28041799, 30266093, 28597716; Phenotypes: Leukoencephalopathy with vanishing white matter, MIM#603896, Ovarioleukodystrophy, MIM# 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2021-12-12T20:58:41.097923+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2B2 as ready",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2021-12-12T20:58:41.087912+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2b2 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2021-12-12T20:58:15.546861+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF2B2 were changed from Leukoencephalopathy with vanishing white matter, 603896 to Leukoencephalopathy with vanishing white matter, MIM#603896; congenital cataract",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2021-12-12T20:57:56.990822+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EIF2B2 were set to 30266093; 28597716",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2021-12-12T20:57:31.705360+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EIF2B2: Changed rating: GREEN",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2021-12-12T20:57:23.426966+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2021-12-12T20:56:29.481496+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EHMT1 as ready",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2021-12-12T20:56:29.470056+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ehmt1 has been classified as Green List (High Evidence).",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2021-12-12T20:56:16.819679+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EHMT1 were changed from 9Q SUBTELOMERIC DELETION SYNDROME to Kleefstra syndrome 1, MIM# 610253; MONDO:0027407",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2021-12-12T20:55:57.460765+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EHMT1 were set to ",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2021-12-12T20:55:45.253103+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EHMT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2021-12-12T20:54:47.394121+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EFTUD2 as ready",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2021-12-12T20:54:47.380856+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eftud2 has been classified as Green List (High Evidence).",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2021-12-12T20:54:43.680288+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EFTUD2 were changed from MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY to Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536; Mandibulofacial dysostosis-microcephaly syndrome MONDO:0012516",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2021-12-12T20:54:31.030677+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EFTUD2 were set to ",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2021-12-12T20:53:56.843056+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EFTUD2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2021-12-12T20:53:09.645969+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EFNB1 as ready",
"entity_name": "EFNB1",
"entity_type": "gene"
},
{
"created": "2021-12-12T20:53:09.634875+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: efnb1 has been classified as Green List (High Evidence).",
"entity_name": "EFNB1",
"entity_type": "gene"
},
{
"created": "2021-12-12T20:52:26.375374+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EFNB1 were changed from CRANIOFRONTONASAL SYNDROME to Craniofrontonasal dysplasia, MIM# 304110; Diaphragmatic hernia",
"entity_name": "EFNB1",
"entity_type": "gene"
},
{
"created": "2021-12-12T20:52:10.653423+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EFNB1 were set to ",
"entity_name": "EFNB1",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:20:38.844920+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRNB2 as ready",
"entity_name": "CHRNB2",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:20:38.836223+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrnb2 has been classified as Green List (High Evidence).",
"entity_name": "CHRNB2",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:20:36.342272+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1408",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRNB2 were changed from to Epilepsy, nocturnal frontal lobe, 3, MIM# 605375",
"entity_name": "CHRNB2",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:20:08.320442+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1407",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHRNB2 were set to ",
"entity_name": "CHRNB2",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:19:32.512997+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHRNB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHRNB2",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:19:01.571315+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHRNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11062464, 11104662, 19153075, 32536355, 25770198, 23032131; Phenotypes: Epilepsy, nocturnal frontal lobe, 3, MIM# 605375; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHRNB2",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:18:40.029799+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRNB2 as ready",
"entity_name": "CHRNB2",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:18:40.016223+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrnb2 has been classified as Red List (Low Evidence).",
"entity_name": "CHRNB2",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:18:21.671757+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRNB2 as ready",
"entity_name": "CHRNB2",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:18:21.662587+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrnb2 has been classified as Green List (High Evidence).",
"entity_name": "CHRNB2",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:18:11.726218+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRNB2 were changed from to Epilepsy, nocturnal frontal lobe, 3, MIM# 605375",
"entity_name": "CHRNB2",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:17:52.717866+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHRNB2 were set to ",
"entity_name": "CHRNB2",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:17:34.447333+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHRNB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHRNB2",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:16:51.108597+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHRNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11062464, 11104662, 19153075, 32536355, 25770198, 23032131; Phenotypes: Epilepsy, nocturnal frontal lobe, 3, MIM# 605375; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHRNB2",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:16:28.973187+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRNB2 were changed from CHRNB2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT; NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT to Epilepsy, nocturnal frontal lobe, 3, MIM# 605375",
"entity_name": "CHRNB2",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:16:12.656542+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHRNB2 were set to ",
"entity_name": "CHRNB2",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:15:46.075169+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHRNB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHRNB2",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:15:36.924551+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHRNB2 as Red List (low evidence)",
"entity_name": "CHRNB2",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:15:36.914309+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrnb2 has been classified as Red List (Low Evidence).",
"entity_name": "CHRNB2",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:15:25.647837+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHRNB2: Rating: RED; Mode of pathogenicity: None; Publications: 11062464, 11104662, 19153075, 32536355, 25770198, 23032131; Phenotypes: Epilepsy, nocturnal frontal lobe, 3 605375; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHRNB2",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:12:18.083741+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRNB1 as ready",
"entity_name": "CHRNB1",
"entity_type": "gene"
},
{
"created": "2021-12-11T17:12:18.073061+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrnb1 has been classified as Green List (High Evidence).",
"entity_name": "CHRNB1",
"entity_type": "gene"
}
]
}