{"count":220423,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=792","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=790","results":[{"created":"2022-07-23T14:03:53.434385+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.239","user_name":"Chloe Stutterd","item_type":"entity","text":"edited their review of gene: HAAO: Added comment: CHD reported: Atrial septal defect; Hypoplastic left heart syndrome; Aortic stenosis; Mitral stenosis; Tetralogy of fallot with complete atriventricular canal and pulmonary stenosis; Lsvc and left pulmonary artery arising from the ductus arteriosus; Shone syndrome with aortic coarctation; Changed phenotypes: MIM#617660 Vertebral, cardiac, renal, and limb defects syndrome 1","entity_name":"HAAO","entity_type":"gene"},{"created":"2022-07-23T13:46:57.846036+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.239","user_name":"Chloe Stutterd","item_type":"entity","text":"gene: HAAO was added\ngene: HAAO was added to Congenital Heart Defect. Sources: Literature,Expert list\nMode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HAAO were set to 28792876; 33942433\nPhenotypes for gene: HAAO were set to Atrial septal defect; Hypoplastic left heart syndrome; Aortic stenosis; Mitral stenosis; Tetralogy of fallot with complete atriventricular canal and pulmonary stenosis; Lsvc and left pulmonary artery arising from the ductus arteriosus; Shone syndrome with aortic coarctation\nReview for gene: HAAO was set to GREEN\ngene: HAAO was marked as current diagnostic\nAdded comment: MIM#617660 phenotype is called 'Vertebral, cardiac, renal, and limb defects syndrome type 1' and is a form of Congenital NAD Deficiency Disorder. \r\n\r\nBiallelic, inactivating variants in three genes encoding enzymes of the NAD biosynthesis pathway (KYNU, HAAO, and NADSYN1) disrupt NAD synthesis and have been identified in patients with multiple malformations of the heart, kidney, vertebrae, and limbs; these patients have Congenital NAD Deficiency Disorder (PMID: 33942433). \nSources: Literature, Expert list","entity_name":"HAAO","entity_type":"gene"},{"created":"2022-07-23T13:26:50.490316+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.239","user_name":"Chloe Stutterd","item_type":"entity","text":"gene: GLI3 was added\ngene: GLI3 was added to Congenital Heart Defect. Sources: Literature,Expert list\nMode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GLI3 were set to 24736735; 7211952\nPhenotypes for gene: GLI3 were set to ASD, VSD, AVSD, aortic arch anomaly, PDA\nMode of pathogenicity for gene: GLI3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: GLI3 was set to GREEN\ngene: GLI3 was marked as current diagnostic\nAdded comment: Syndromic CHD associated with the Pallister-Hall syndrome (PHS) phenotype which is caused by truncating mutations in the middle third of the gene that produce a truncated functional repressor protein.\r\n\r\nOMIM #146510 (Pallister-Hall syndrome; PHS) phenotype includes ventricular septal defect, aortic coarctation and patent ductus arteriosus based on original clinical description of syndrome in 1980 in patients without molecular confirmation of diagnosis (PubMed 7211952)\r\n\r\nPMID 24736735 (2015): French cohort of 76 individuals from 55 families carrying a GLI3 molecular defect. CHD identified in 5/21 unrelated patients with PHS (septal defects, aortic arch anomaly). \nSources: Literature, Expert list","entity_name":"GLI3","entity_type":"gene"},{"created":"2022-07-23T11:42:53.137199+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.239","user_name":"Chloe Stutterd","item_type":"entity","text":"gene: FOXP1 was added\ngene: FOXP1 was added to Congenital Heart Defect. Sources: Literature,Expert list\nMode of inheritance for gene: FOXP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXP1 were set to 29090079; 23766104\nPhenotypes for gene: FOXP1 were set to Atrial septal defect; Atrioventricular septal defect; Patent ductus arteriosus; Pulmonic stenosis; Hypoplastic left heart syndrome\nReview for gene: FOXP1 was set to AMBER\ngene: FOXP1 was marked as current diagnostic\nAdded comment: Best evidence of association with CHD comes from PMID:29090079 but only for two patients and one with very mild CHD only. Study is a prospective investigation of nine children with FOXP1 syndrome using a battery of standardized clinical assessments, two had CHD (one with pulmonary stenosis, the other with self-resolving PDA). Authors recommend cardiac screening for patients with FOXP1 neurodevelopmental syndrome.\r\n\r\nPMID:23766104: Single patient with CHD (AVSD, hypoplastic left ventricle and aortic arch, left atrioventricular valve stenosis, bilateral superior vena cavae, transposed great vessels) and cryptorchidism and a novel 3p14 microdeletion involving first 4 exons of FOXP1, inherited from an unaffected mother. FOXP1 sequenced in 82 patients with AVSD or HLHS: 2/82 patients had FOXP1 variant c.1702C>T;p.(Pro568Ser), inheritance unknown, variant present gnomAD in 153 hets, benign/likely benign in ClinVar  . \r\n\r\nPMID: 25908055; 22290856: CHD associated with 3p14 contiguous gene deletion syndrome involving FOXP1 and up to 30 other genes.\r\n\r\nHomozygous null mice have CHD (MGI ID:1914004; PMID: 15342473). \nSources: Literature, Expert list","entity_name":"FOXP1","entity_type":"gene"},{"created":"2022-07-22T18:43:39.035754+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.171","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CTR9 were changed from Neurodevelopmental disorder (MONDO:0700092), CTR9 related to Neurodevelopmental disorder (MONDO:0700092), CTR9 related; Familial Wilms tumour, MONDO:0006058, CTR9-related","entity_name":"CTR9","entity_type":"gene"},{"created":"2022-07-22T18:43:11.775801+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.170","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CTR9 were set to PMID: 35499524","entity_name":"CTR9","entity_type":"gene"},{"created":"2022-07-22T18:42:46.081039+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.169","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CTR9: Rating: GREEN; Mode of pathogenicity: None; Publications: 25099282, 29292210; Phenotypes: Familial Wilms tumour, MONDO:0006058, CTR9-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CTR9","entity_type":"gene"},{"created":"2022-07-22T18:41:39.182314+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CTR9 as ready","entity_name":"CTR9","entity_type":"gene"},{"created":"2022-07-22T18:41:39.168819+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctr9 has been classified as Green List (High Evidence).","entity_name":"CTR9","entity_type":"gene"},{"created":"2022-07-22T18:26:51.819191+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CTR9 as Green List (high evidence)","entity_name":"CTR9","entity_type":"gene"},{"created":"2022-07-22T18:26:51.808008+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctr9 has been classified as Green List (High Evidence).","entity_name":"CTR9","entity_type":"gene"},{"created":"2022-07-22T18:26:26.240878+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CTR9 was added\ngene: CTR9 was added to Cancer Predisposition_Paediatric. Sources: Expert Review\nMode of inheritance for gene: CTR9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CTR9 were set to 25099282; 29292210\nPhenotypes for gene: CTR9 were set to Familial Wilms tumour, MONDO:0006058, CTR9-related\nReview for gene: CTR9 was set to GREEN\nAdded comment: Four unrelated families reported, where germline variants segregated with disease. Postulated to be a tumour suppressor gene.\r\n\r\nNote variants in this gene have also been associated with a neurodevelopmental disorder. \nSources: Expert Review","entity_name":"CTR9","entity_type":"gene"},{"created":"2022-07-22T16:57:19.501984+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"edited their review of gene: CERKL: Changed rating: AMBER","entity_name":"CERKL","entity_type":"gene"},{"created":"2022-07-22T16:54:08.851925+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"gene: CYP19A1 was added\ngene: CYP19A1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: CYP19A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP19A1 were set to 29553041; 17164303; 25264451\nPhenotypes for gene: CYP19A1 were set to Aromatase deficiency (MIM#613546)\nReview for gene: CYP19A1 was set to AMBER\nAdded comment: Aromatase deficiency is a rare disease characterized by a decrease in estrogen synthesis. Clinical characteristics of patients with aromatase deficiency vary depending on gender, age and enzymatic activity\r\n\r\nCYP19A1 loss-of-function because of biallelic mutations leads to aromatase deficiency, whereas CYP19A1 overexpression because of genomic rearrangements results in aromatase excess syndrome (https://doi.org/10.1016/j.coemr.2020.03.002) \nSources: Literature","entity_name":"CYP19A1","entity_type":"gene"},{"created":"2022-07-22T16:53:47.982987+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.215","user_name":"SHEKEEB MOHAMMAD","item_type":"entity","text":"gene: MT-ND6 was added\ngene: MT-ND6 was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL\nPublications for gene: MT-ND6 were set to PMID: 33109474\nPhenotypes for gene: MT-ND6 were set to Leber Optic Atrophy; Parkinsonism; OMIM 516006\nReview for gene: MT-ND6 was set to GREEN\nAdded comment: Sources: Literature","entity_name":"MT-ND6","entity_type":"gene"},{"created":"2022-07-22T16:46:46.639511+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.215","user_name":"SHEKEEB MOHAMMAD","item_type":"entity","text":"gene: WASL was added\ngene: WASL was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: WASL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WASL were set to PMID: 33571872\nPhenotypes for gene: WASL were set to Early onset parkinsonism\nReview for gene: WASL was set to GREEN\nAdded comment: Sources: Literature","entity_name":"WASL","entity_type":"gene"},{"created":"2022-07-22T16:44:57.808974+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.215","user_name":"SHEKEEB MOHAMMAD","item_type":"entity","text":"gene: KMT2B was added\ngene: KMT2B was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: KMT2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KMT2B were set to PMID: 33816656\nPhenotypes for gene: KMT2B were set to DYT28; Childhood‐onset and progressive dystonia; Dysarthria; Dysphagia; Developmental delay; Dysmorphic features; Parkinsonism; OMIM 617284\nReview for gene: KMT2B was set to GREEN\nAdded comment: Sources: Literature","entity_name":"KMT2B","entity_type":"gene"},{"created":"2022-07-22T16:42:08.335024+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.215","user_name":"SHEKEEB MOHAMMAD","item_type":"entity","text":"gene: GBA was added\ngene: GBA was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GBA were set to PMID: 12809640\nPhenotypes for gene: GBA were set to Gaucher Disease Type 1; Early onset parkinsonism; Bone lesions; Hepatosplenomegaly; Hematologic disorders; OMIM 230800\nReview for gene: GBA was set to GREEN\nAdded comment: Sources: Literature","entity_name":"GBA","entity_type":"gene"},{"created":"2022-07-22T16:39:55.470360+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.215","user_name":"SHEKEEB MOHAMMAD","item_type":"entity","text":"gene: FRRS1L was added\ngene: FRRS1L was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: FRRS1L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FRRS1L were set to PMID: 29086067\nPhenotypes for gene: FRRS1L were set to Developmental and epileptic dyskinetic encephalopathy; Seizures; Chorea; Parkinsonism; Developmental delay; OMIM 616981\nReview for gene: FRRS1L was set to GREEN\nAdded comment: Sources: Literature","entity_name":"FRRS1L","entity_type":"gene"},{"created":"2022-07-22T16:39:50.050055+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"gene: CYP11B1 was added\ngene: CYP11B1 was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: CYP11B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP11B1 were set to 8768848\nPhenotypes for gene: CYP11B1 were set to Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency (MIM#202010)\nReview for gene: CYP11B1 was set to AMBER\nAdded comment: CAH due to 11-beta-hydroxylase deficiency is an autosomal recessive disorder of corticosteroid biosynthesis resulting in androgen excess, virilization, and hypertension.\r\n\r\nWell established gene-disease association. \nSources: Literature","entity_name":"CYP11B1","entity_type":"gene"},{"created":"2022-07-22T16:33:16.301446+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.215","user_name":"SHEKEEB MOHAMMAD","item_type":"entity","text":"gene: ALPL was added\ngene: ALPL was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: ALPL were set to PMID: 32956941\nPhenotypes for gene: ALPL were set to Hypophosphatasia; Osteomalacia; Parkinsonism; OMIM 146300\nReview for gene: ALPL was set to GREEN\nAdded comment: Sources: Literature","entity_name":"ALPL","entity_type":"gene"},{"created":"2022-07-22T16:16:03.955666+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"edited their review of gene: CERKL: Changed publications: 33322828, 32036094","entity_name":"CERKL","entity_type":"gene"},{"created":"2022-07-22T16:15:54.397211+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"changed review comment from: More than 20 families reported, though some variants are recurrent (founder). This gene causes nonsyndromic retinal disease.  Highly variable age of onset (7-45 years) and severity. There is also evidence of phenotypic intra- and inter-familial variability between patients with the same genotype. \nSources: Literature; to: More than 20 families reported, though some variants are recurrent (founder). This gene causes nonsyndromic retinal disease.  Highly variable age of onset (7-45 years) and severity. There is also evidence of phenotypic intra- and inter-familial variability between patients with the same genotype. \r\nSources: Literature","entity_name":"CERKL","entity_type":"gene"},{"created":"2022-07-22T16:15:22.547009+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"gene: CERKL was added\ngene: CERKL was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: CERKL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CERKL were set to 33322828\nPhenotypes for gene: CERKL were set to Retinitis pigmentosa 26 (MIM#608380)\nReview for gene: CERKL was set to RED\nAdded comment: More than 20 families reported, though some variants are recurrent (founder). This gene causes nonsyndromic retinal disease.  Highly variable age of onset (7-45 years) and severity. There is also evidence of phenotypic intra- and inter-familial variability between patients with the same genotype. \nSources: Literature","entity_name":"CERKL","entity_type":"gene"},{"created":"2022-07-22T16:10:43.648516+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.215","user_name":"SHEKEEB MOHAMMAD","item_type":"entity","text":"gene: ADAR was added\ngene: ADAR was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAR were set to PMID: 32911246\nPhenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6; neuroinflammatory disorder with cerebral calcification; progressive loss of cognition; spasticity; dystonia; parkinsonism; OMIM 615010\nReview for gene: ADAR was set to GREEN\nAdded comment: Sources: Literature","entity_name":"ADAR","entity_type":"gene"},{"created":"2022-07-22T15:51:50.899840+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"gene: BTD was added\ngene: BTD was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BTD were set to 16435182; 20301497; 32440248\nPhenotypes for gene: BTD were set to Biotinidase deficiency (MIM#253260)\nReview for gene: BTD was set to RED\nAdded comment: Well-established gene disease association. Genotype/phenotype correlations in biotinidase deficiency are not well established, decisions regarding treatment should be based on the results of enzyme activity rather than molecular genetic testing.\r\n\r\nMay be challenging to predict phenotypic outcome in a carrier screening context. \nSources: Literature","entity_name":"BTD","entity_type":"gene"},{"created":"2022-07-22T14:08:58.338546+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"gene: AIRE was added\ngene: AIRE was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: AIRE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AIRE were set to 35521792; 28323927\nPhenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia (MIM#240300)\nReview for gene: AIRE was set to AMBER\nAdded comment: Well established gene disease association. Onset in childhood however phenotype can vary even between siblings with the same genotype. Therefore, it may be difficult (?impossible) to predict the severity/age of onset from the genotype\r\n\r\nMost reported individuals have bi-allelic variants. AD inheritance has been reported in a single family (OMIM) p.G228W has been shown to have a dominant-negative effect by binding to WT AIRE (OMIM) \nSources: Literature","entity_name":"AIRE","entity_type":"gene"},{"created":"2022-07-22T13:03:17.757185+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: KCNE1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 5, MIM# 613695, Jervell and Lange-Nielsen syndrome 2, MIM# 612347, Acquired LQTS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KCNE1","entity_type":"gene"},{"created":"2022-07-22T13:00:05.256989+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: VPS13A: Rating: AMBER; Mode of pathogenicity: None; Publications: 28446873; Phenotypes: Choreoacanthocytosis (MIM#200150); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"VPS13A","entity_type":"gene"},{"created":"2022-07-22T12:54:15.120578+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: TH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Segawa syndrome, recessive (MIM#605407); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TH","entity_type":"gene"},{"created":"2022-07-22T12:47:22.610978+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: None; Publications: 33581793; Phenotypes: Spastic paraplegia 11, autosomal recessive (MIM#604360); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPG11","entity_type":"gene"},{"created":"2022-07-22T12:40:43.051634+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: SPART: Rating: GREEN; Mode of pathogenicity: None; Publications: 31535723, 28875386, 28679690; Phenotypes: Troyer syndrome (MIM#275900), SPG20, MONDO:0010156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPART","entity_type":"gene"},{"created":"2022-07-22T12:32:51.038495+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: None; Publications: 23129421; Phenotypes: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 (MIM#606002); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SETX","entity_type":"gene"},{"created":"2022-07-22T12:24:33.671027+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: None; Publications: 35803092; Phenotypes: Infantile neuroaxonal dystrophy 1 MIM#256600, Neurodegeneration with brain iron accumulation 2B MIM#610217; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLA2G6","entity_type":"gene"},{"created":"2022-07-22T12:16:10.532481+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15911822; Phenotypes: HARP syndrome (MIM#607236), Neurodegeneration with brain iron accumulation 1 (MIM#234200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PANK2","entity_type":"gene"},{"created":"2022-07-22T12:06:14.013957+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29625568, 17470133; Phenotypes: Niemann-pick disease, type C2 (MIM#607625); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPC2","entity_type":"gene"},{"created":"2022-07-22T11:28:31.734200+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11333381, 26910362; Phenotypes: Niemann-Pick disease, type C1 (MIM#257220); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPC1","entity_type":"gene"},{"created":"2022-07-22T11:17:32.947399+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 18551513, 15148145, 17377071; Phenotypes: Emery-Dreifuss muscular dystrophy 3, autosomal recessive (MIM#616516), Mandibuloacral dysplasia (MIM#248370); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"LMNA","entity_type":"gene"},{"created":"2022-07-22T11:06:54.281494+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: LDLR: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: LDL cholesterol level QTL2/Hypercholesterolemia, familial, 1 (MIM#143890); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"LDLR","entity_type":"gene"},{"created":"2022-07-22T10:57:39.362345+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 30740813, 23623387, 17572665, 24878229; Phenotypes: Yunis-Varon syndrome (MIM#216340); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FIG4","entity_type":"gene"},{"created":"2022-07-22T10:51:51.400890+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.48","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: PMM2 as Green List (high evidence)","entity_name":"PMM2","entity_type":"gene"},{"created":"2022-07-22T10:51:51.393007+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.48","user_name":"Chirag Patel","item_type":"entity","text":"Gene: pmm2 has been classified as Green List (High Evidence).","entity_name":"PMM2","entity_type":"gene"},{"created":"2022-07-22T10:50:46.416378+10:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.47","user_name":"Chirag Patel","item_type":"entity","text":"gene: PMM2 was added\ngene: PMM2 was added to Renal Macrocystic Disease. Sources: Literature\nMode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PMM2 were set to PMID: 28373276, 32595772\nPhenotypes for gene: PMM2 were set to Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease (HIPKD)\nReview for gene: PMM2 was set to GREEN\ngene: PMM2 was marked as current diagnostic\nAdded comment: Cabezas et al (2017) reported co-occurrence of hyperinsulinaemic hypoglycaemia and polycystic kidney disease (HIPKD in 17 children from 11 unrelated families. Patients presented with hyperinsulinaemic hypoglycaemia in infancy and enlarged kidneys with multiple kidney cysts. Some progressed to ESKD and some had liver cysts.\r\n\r\nWhole-genome linkage analysis in 5 informative families identified a single significant locus on chromosome 16p13.2. Sequencing of the coding regions of all linked genes failed to identify biallelic mutations. Instead, they found in all patients a promoter mutation (c.-167G>T) in PMM2, either homozygous or in trans with PMM2 coding mutations. They found deglycosylation in cultured pancreatic β cells altered insulin secretion. In vitro, the PMM2 promoter mutation associated with decreased transcriptional activity in patient kidney cells and impaired binding of the transcription factor ZNF143. In silico analysis suggested an important role of ZNF143 for the formation of a chromatin loop including PMM2. They proposed that the PMM2 promoter mutation alters tissue-specific chromatin loop formation, with consequent organ-specific deficiency of PMM2 leading to the restricted phenotype of HIPKD. \r\n\r\nNone of the patients exhibited the typical clinical or diagnostic features of CDG1A. Serum transferrin glycosylation was normal in 11 patients who had assessment. \nSources: Literature","entity_name":"PMM2","entity_type":"gene"},{"created":"2022-07-22T10:21:28.241200+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: IGHM: Rating: AMBER; Mode of pathogenicity: None; Publications: 12370281, 8890099; Phenotypes: Agammaglobulinemia 1 (MIM#601495); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IGHM","entity_type":"gene"},{"created":"2022-07-22T10:15:17.113549+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: DOCK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26083206, 29204803, 33928462, 30826364; Phenotypes: Immunodeficiency 40 (MIM#616433); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOCK2","entity_type":"gene"},{"created":"2022-07-22T09:55:09.887523+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: PRKRA: Rating: AMBER; Mode of pathogenicity: None; Publications: 35844281, 18243799, 25142429, 35844287; Phenotypes: Dystonia 16 (MIM#612067); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRKRA","entity_type":"gene"},{"created":"2022-07-22T08:48:55.554820+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.78","user_name":"Peter McNaughton","item_type":"entity","text":"gene: SLCO2A1 was added\ngene: SLCO2A1 was added to Inflammatory bowel disease. Sources: Literature\nMode of inheritance for gene: SLCO2A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLCO2A1 were set to PMID: 29313109\nPhenotypes for gene: SLCO2A1 were set to Enteropathy\nReview for gene: SLCO2A1 was set to GREEN\nAdded comment: Sources: Literature","entity_name":"SLCO2A1","entity_type":"gene"},{"created":"2022-07-22T08:07:17.929460+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4859","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C20orf24 as ready","entity_name":"C20orf24","entity_type":"gene"},{"created":"2022-07-22T08:07:17.921656+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4859","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c20orf24 has been classified as Red List (Low Evidence).","entity_name":"C20orf24","entity_type":"gene"},{"created":"2022-07-22T08:07:07.148843+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4859","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C20orf24 was added\ngene: C20orf24 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nnew gene name tags were added to gene: C20orf24.\nMode of inheritance for gene: C20orf24 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C20orf24 were set to 35614220; 24194475\nPhenotypes for gene: C20orf24 were set to Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2, MIM# 616994\nReview for gene: C20orf24 was set to RED\nAdded comment: Bi-allelic LoF variant identified in patient originally reported in PMID 24194475. HGNC approved name is RAB5IF. \nSources: Literature","entity_name":"C20orf24","entity_type":"gene"},{"created":"2022-07-22T08:06:51.945805+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.169","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: C20orf24.","entity_name":"C20orf24","entity_type":"gene"},{"created":"2022-07-22T08:05:27.420113+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.169","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C20orf24 as ready","entity_name":"C20orf24","entity_type":"gene"},{"created":"2022-07-22T08:05:27.408993+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.169","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c20orf24 has been classified as Red List (Low Evidence).","entity_name":"C20orf24","entity_type":"gene"},{"created":"2022-07-22T08:01:36.174747+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.169","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C20orf24 was added\ngene: C20orf24 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: C20orf24 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C20orf24 were set to 35614220; 24194475\nPhenotypes for gene: C20orf24 were set to Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2, MIM# \t616994\nReview for gene: C20orf24 was set to RED\nAdded comment: Bi-allelic LoF variant identified in patient originally reported in PMID 24194475.\r\n\r\nHGNC approved name is RAB5IF. \nSources: Literature","entity_name":"C20orf24","entity_type":"gene"},{"created":"2022-07-21T16:49:02.847100+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: KCNQ1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29033053, 28438721; Phenotypes: Jervell and Lange-Nielsen syndrome (MIM#220400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2022-07-21T16:25:02.590852+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: 29649853, 20301469; Phenotypes: Fabry disease (MIM#301500); 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":"GLA","entity_type":"gene"},{"created":"2022-07-21T16:20:27.243797+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DSP as ready","entity_name":"DSP","entity_type":"gene"},{"created":"2022-07-21T16:20:27.228973+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dsp has been classified as Green List (High Evidence).","entity_name":"DSP","entity_type":"gene"},{"created":"2022-07-21T16:20:24.221022+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DSP were changed from Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3) to Cardiomyopathy, dilated, with woolly hair and keratoderma (MIM#605676); Epidermolysis bullosa, lethal acantholytic (MIM#609638)","entity_name":"DSP","entity_type":"gene"},{"created":"2022-07-21T16:20:10.142157+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DSP were set to ","entity_name":"DSP","entity_type":"gene"},{"created":"2022-07-21T16:17:04.610637+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: CASQ2.","entity_name":"CASQ2","entity_type":"gene"},{"created":"2022-07-21T16:16:38.205676+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP7B as ready","entity_name":"ATP7B","entity_type":"gene"},{"created":"2022-07-21T16:16:38.193297+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp7b has been classified as Green List (High Evidence).","entity_name":"ATP7B","entity_type":"gene"},{"created":"2022-07-21T16:16:33.712563+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATP7B were set to ","entity_name":"ATP7B","entity_type":"gene"},{"created":"2022-07-21T16:15:52.504338+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: ATP13A2.","entity_name":"ATP13A2","entity_type":"gene"},{"created":"2022-07-21T16:14:30.243213+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: BGN.","entity_name":"BGN","entity_type":"gene"},{"created":"2022-07-21T16:13:50.055108+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: C8B.","entity_name":"C8B","entity_type":"gene"},{"created":"2022-07-21T16:08:15.109701+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: C7.","entity_name":"C7","entity_type":"gene"},{"created":"2022-07-21T16:06:44.170650+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: C6.","entity_name":"C6","entity_type":"gene"},{"created":"2022-07-21T16:05:27.415201+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.168","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IL23R: Changed phenotypes: Immunodeficiency disease, MONDO:0021094, Susceptibility to mycobacteria and Salmonella Edit","entity_name":"IL23R","entity_type":"gene"},{"created":"2022-07-21T16:05:07.308662+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.168","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IL23R: Changed phenotypes: Immunodeficiency disease, MONDO:0021094","entity_name":"IL23R","entity_type":"gene"},{"created":"2022-07-21T16:04:49.363801+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.168","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IL23R were changed from Susceptibility to mycobacteria and Salmonella to Immunodeficiency disease, MONDO:0021094; Susceptibility to mycobacteria and Salmonella","entity_name":"IL23R","entity_type":"gene"},{"created":"2022-07-21T16:04:20.295858+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.167","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IL23R were set to 30578351","entity_name":"IL23R","entity_type":"gene"},{"created":"2022-07-21T16:03:58.882975+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.166","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IL23R as Amber List (moderate evidence)","entity_name":"IL23R","entity_type":"gene"},{"created":"2022-07-21T16:03:58.870841+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.166","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: il23r has been classified as Amber List (Moderate Evidence).","entity_name":"IL23R","entity_type":"gene"},{"created":"2022-07-21T16:03:40.222688+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.165","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IL23R: Added comment: PMID 35829840: 48yo male with disseminated NTM homozygous (p.R381X) with supportive functional data.; Changed rating: AMBER; Changed publications: 30578351, 35829840","entity_name":"IL23R","entity_type":"gene"},{"created":"2022-07-21T16:01:31.632769+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IL23R were changed from Susceptibility to mycobacteria and Salmonella to Immunodeficiency disease, MONDO:0021094; Susceptibility to mycobacteria and Salmonella","entity_name":"IL23R","entity_type":"gene"},{"created":"2022-07-21T15:59:16.753636+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IL23R were set to 30578351","entity_name":"IL23R","entity_type":"gene"},{"created":"2022-07-21T15:57:56.076193+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IL23R as Green List (high evidence)","entity_name":"IL23R","entity_type":"gene"},{"created":"2022-07-21T15:57:56.066778+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: il23r has been classified as Green List (High Evidence).","entity_name":"IL23R","entity_type":"gene"},{"created":"2022-07-21T15:56:20.952817+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.58","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: None; Publications: 31135052, 31837835, 22146942, 19068277; Phenotypes: Spastic paraplegia 35, autosomal recessive (MIM#612319); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FA2H","entity_type":"gene"},{"created":"2022-07-21T15:54:38.114398+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: HYOU1: Changed rating: AMBER; Changed phenotypes: Immunodeficiency 59 and hypoglycemia, MIM# 233600","entity_name":"HYOU1","entity_type":"gene"},{"created":"2022-07-21T15:41:53.886787+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.58","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: 22795705, 16175511, 20302578, 20613772, 16467215; Phenotypes: Cardiomyopathy, dilated, with woolly hair and keratoderma (MIM#605676), Epidermolysis bullosa, lethal acantholytic (MIM#609638); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DSP","entity_type":"gene"},{"created":"2022-07-21T15:30:38.860044+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.165","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HYOU1 as Amber List (moderate evidence)","entity_name":"HYOU1","entity_type":"gene"},{"created":"2022-07-21T15:30:38.851467+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.165","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hyou1 has been classified as Amber List (Moderate Evidence).","entity_name":"HYOU1","entity_type":"gene"},{"created":"2022-07-21T15:30:21.040070+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.164","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: HYOU1: Added comment: Second individual reported in PMID: 35822684 with severe neutropenia.; Changed rating: AMBER; Changed publications: 27913302, 35822684; Changed phenotypes: Immunodeficiency 59 and hypoglycemia, MIM# 233600","entity_name":"HYOU1","entity_type":"gene"},{"created":"2022-07-21T15:29:29.304868+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HYOU1 as ready","entity_name":"HYOU1","entity_type":"gene"},{"created":"2022-07-21T15:29:29.293381+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Promoted to Amber as two individuals now reported.","entity_name":"HYOU1","entity_type":"gene"},{"created":"2022-07-21T15:29:29.269069+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hyou1 has been classified as Amber List (Moderate Evidence).","entity_name":"HYOU1","entity_type":"gene"},{"created":"2022-07-21T15:28:47.447111+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HYOU1 were set to 27913302","entity_name":"HYOU1","entity_type":"gene"},{"created":"2022-07-21T15:28:09.864233+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HYOU1 as Amber List (moderate evidence)","entity_name":"HYOU1","entity_type":"gene"},{"created":"2022-07-21T15:28:09.852295+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hyou1 has been classified as Amber List (Moderate Evidence).","entity_name":"HYOU1","entity_type":"gene"},{"created":"2022-07-21T15:26:31.372710+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: PGK1.","entity_name":"PGK1","entity_type":"gene"},{"created":"2022-07-21T15:26:00.629689+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: GK.","entity_name":"GK","entity_type":"gene"},{"created":"2022-07-21T15:16:59.904734+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.58","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: CASQ2: Rating: AMBER; Mode of pathogenicity: None; Publications: 34012068; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 2 (MIM#611938); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CASQ2","entity_type":"gene"},{"created":"2022-07-21T14:52:52.298189+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.58","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28433102; Phenotypes: Wilson disease (MIM#277900); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP7B","entity_type":"gene"},{"created":"2022-07-21T13:49:08.584826+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.58","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: ATP13A2: Rating: RED; Mode of pathogenicity: None; Publications: 28137957, 30746398; Phenotypes: Kufor-Rakeb syndrome (MIM#606693), Spastic paraplegia 78, autosomal recessive (MIM#617225); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP13A2","entity_type":"gene"},{"created":"2022-07-21T13:34:06.187558+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.58","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: BGN: Rating: AMBER; Mode of pathogenicity: None; Publications: 27632686, 17502576, 27236923; Phenotypes: Meester-Loeys syndrome (MIM#300989), Spondyloepimetaphyseal dysplasia, X-linked (MIM#300106); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"BGN","entity_type":"gene"},{"created":"2022-07-21T13:03:19.156029+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.58","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: C8B: Rating: AMBER; Mode of pathogenicity: None; Publications: 8098723, 33563058, 27183977, 9476133, 19434484, 31440263; Phenotypes: C8 deficiency, type II (MIM#613789); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"C8B","entity_type":"gene"},{"created":"2022-07-21T12:55:29.613893+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.58","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: C7: Rating: AMBER; Mode of pathogenicity: None; Publications: 22206826, 20591074, 17407100, 16771861; Phenotypes: C7 deficiency (MIM#610102); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"C7","entity_type":"gene"}]}