{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1105","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1103","results":[{"created":"2021-12-03T16:29:52.239506+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10031","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hibadh has been classified as Red List (Low Evidence).","entity_name":"HIBADH","entity_type":"gene"},{"created":"2021-12-03T16:29:43.065715+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10031","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HIBADH was added\ngene: HIBADH was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HIBADH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HIBADH were set to 34176136\nPhenotypes for gene: HIBADH were set to Organic aciduria\nReview for gene: HIBADH was set to RED\nAdded comment: Single family reported with two siblings presenting with 3-Hydroxyisobutyric aciduria. Male sib with neurodevelopmental symptoms, female sibling asymptomatic. No functional studies \nSources: Literature","entity_name":"HIBADH","entity_type":"gene"},{"created":"2021-12-03T16:27:28.264709+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10030","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LAMB1 were changed from Lissencephaly 5, MIM# 615191; Cystic leukoencephalopathy to Lissencephaly 5, MIM# 615191; Cystic leukoencephalopathy; Adult-onset leukoencephalopathy","entity_name":"LAMB1","entity_type":"gene"},{"created":"2021-12-03T16:27:10.918274+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10029","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LAMB1 were set to 23472759; 25925986; 29888467; 25925986; 32548278","entity_name":"LAMB1","entity_type":"gene"},{"created":"2021-12-03T16:26:46.324278+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10028","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LAMB1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"LAMB1","entity_type":"gene"},{"created":"2021-12-03T16:26:25.770361+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10027","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LAMB1: Added comment: Association between mono-allelic variants and adult-onset leukoencephalopathy:\r\n\r\nLAMB1 variants found in 5 families with cerebral small vessel disease. 4 are truncating frameshifts (and 2 of the families have the same frameshift), 1 is a canonical splice. All families had adult onset of symptoms ranging from 20-63yo. All have white matter hypersignals. ‘These variants are associated with a novel phenotype characterized by the association of a hippocampal type episodic memory defect and a diffuse vascular leukoencephalopathy.’; Changed publications: 23472759, 25925986, 29888467, 25925986, 32548278, 34606115; Changed phenotypes: Lissencephaly 5, MIM# 615191, Cystic leukoencephalopathy, Adult-onset leukoencephalopathy; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"LAMB1","entity_type":"gene"},{"created":"2021-12-03T16:23:50.924778+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.155","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TAB2 as ready","entity_name":"TAB2","entity_type":"gene"},{"created":"2021-12-03T16:23:50.906137+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.155","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tab2 has been classified as Green List (High Evidence).","entity_name":"TAB2","entity_type":"gene"},{"created":"2021-12-03T16:23:38.460335+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.155","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TAB2 were changed from  to Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like; Congenital heart defects, nonsyndromic, 2 (MIM#614980)","entity_name":"TAB2","entity_type":"gene"},{"created":"2021-12-03T15:19:12.043819+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.154","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TAB2 were set to ","entity_name":"TAB2","entity_type":"gene"},{"created":"2021-12-03T15:18:42.011328+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.153","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TAB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TAB2","entity_type":"gene"},{"created":"2021-12-03T15:18:12.215401+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.152","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TAB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34456334; Phenotypes: Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like, Congenital heart defects, nonsyndromic, 2 (MIM#614980); Mode of inheritance: None","entity_name":"TAB2","entity_type":"gene"},{"created":"2021-12-03T15:14:58.118372+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.906","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TAB2 as ready","entity_name":"TAB2","entity_type":"gene"},{"created":"2021-12-03T15:14:58.109280+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.906","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tab2 has been classified as Green List (High Evidence).","entity_name":"TAB2","entity_type":"gene"},{"created":"2021-12-03T15:14:49.860960+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.906","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TAB2 were changed from CONGENITAL HEART DISEASE, NONSYNDROMIC, 2 to Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like; Congenital heart defects, nonsyndromic, 2 (MIM#614980)","entity_name":"TAB2","entity_type":"gene"},{"created":"2021-12-03T15:14:26.908213+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.905","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TAB2 were set to ","entity_name":"TAB2","entity_type":"gene"},{"created":"2021-12-03T15:14:14.869566+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.904","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TAB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TAB2","entity_type":"gene"},{"created":"2021-12-03T15:14:01.758335+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.903","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TAB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34456334; Phenotypes: Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like, Congenital heart defects, nonsyndromic, 2 (MIM#614980); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TAB2","entity_type":"gene"},{"created":"2021-12-03T15:13:02.465316+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TAB2 as ready","entity_name":"TAB2","entity_type":"gene"},{"created":"2021-12-03T15:13:02.447349+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tab2 has been classified as Green List (High Evidence).","entity_name":"TAB2","entity_type":"gene"},{"created":"2021-12-03T15:12:57.224277+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TAB2 as Green List (high evidence)","entity_name":"TAB2","entity_type":"gene"},{"created":"2021-12-03T15:12:57.215562+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tab2 has been classified as Green List (High Evidence).","entity_name":"TAB2","entity_type":"gene"},{"created":"2021-12-03T15:12:19.519576+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TAB2 as ready","entity_name":"TAB2","entity_type":"gene"},{"created":"2021-12-03T15:12:19.504222+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tab2 has been classified as Green List (High Evidence).","entity_name":"TAB2","entity_type":"gene"},{"created":"2021-12-03T15:12:11.184675+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TAB2 were changed from  to Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like; Congenital heart defects, nonsyndromic, 2 (MIM#614980)","entity_name":"TAB2","entity_type":"gene"},{"created":"2021-12-03T15:11:59.700305+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TAB2 were set to ","entity_name":"TAB2","entity_type":"gene"},{"created":"2021-12-03T15:11:52.336245+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TAB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TAB2","entity_type":"gene"},{"created":"2021-12-03T15:11:45.648516+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TAB2 as Green List (high evidence)","entity_name":"TAB2","entity_type":"gene"},{"created":"2021-12-03T15:11:45.638672+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tab2 has been classified as Green List (High Evidence).","entity_name":"TAB2","entity_type":"gene"},{"created":"2021-12-03T15:10:54.096938+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.75","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOXR1 as ready","entity_name":"FOXR1","entity_type":"gene"},{"created":"2021-12-03T15:10:54.087496+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.75","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxr1 has been classified as Amber List (Moderate Evidence).","entity_name":"FOXR1","entity_type":"gene"},{"created":"2021-12-03T15:10:46.300482+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.75","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FOXR1 as Amber List (moderate evidence)","entity_name":"FOXR1","entity_type":"gene"},{"created":"2021-12-03T15:10:46.289762+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.75","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxr1 has been classified as Amber List (Moderate Evidence).","entity_name":"FOXR1","entity_type":"gene"},{"created":"2021-12-03T15:10:12.687863+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4325","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: FOXR1 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None","entity_name":"FOXR1","entity_type":"gene"},{"created":"2021-12-03T15:09:26.677283+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4324","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOXR1 as ready","entity_name":"FOXR1","entity_type":"gene"},{"created":"2021-12-03T15:09:26.661637+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4324","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxr1 has been classified as Amber List (Moderate Evidence).","entity_name":"FOXR1","entity_type":"gene"},{"created":"2021-12-03T15:09:19.675007+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4324","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FOXR1 as Amber List (moderate evidence)","entity_name":"FOXR1","entity_type":"gene"},{"created":"2021-12-03T15:09:19.664909+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4324","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxr1 has been classified as Amber List (Moderate Evidence).","entity_name":"FOXR1","entity_type":"gene"},{"created":"2021-12-03T15:08:37.165396+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4323","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:FOXR2 from the panel","entity_name":null,"entity_type":null},{"created":"2021-12-03T14:57:41.355232+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10027","user_name":"Melanie Marty","item_type":"entity","text":"edited their review of gene: OGDHL: Changed phenotypes: Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment and ataxia","entity_name":"OGDHL","entity_type":"gene"},{"created":"2021-12-03T14:57:39.803423+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.103","user_name":"Melanie Marty","item_type":"entity","text":"edited their review of gene: OGDHL: Changed phenotypes: Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment and ataxia","entity_name":"OGDHL","entity_type":"gene"},{"created":"2021-12-03T14:56:44.871035+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10027","user_name":"Melanie Marty","item_type":"entity","text":"edited their review of gene: OGDHL: Changed phenotypes: Neurodevelopmental disorder featuring epilepsy, hearing loss and visual impairment","entity_name":"OGDHL","entity_type":"gene"},{"created":"2021-12-03T14:56:19.546287+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10027","user_name":"Melanie Marty","item_type":"entity","text":"edited their review of gene: OGDHL: Changed publications: 34800363","entity_name":"OGDHL","entity_type":"gene"},{"created":"2021-12-03T14:55:55.284644+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.103","user_name":"Melanie Marty","item_type":"entity","text":"gene: OGDHL was added\ngene: OGDHL was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: OGDHL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OGDHL were set to 34800363\nPhenotypes for gene: OGDHL were set to Neurodevelopmental disorder featuring epilepsy, hearing loss and visual impairment\nReview for gene: OGDHL was set to GREEN\nAdded comment: Nine individuals from eight unrelated families carrying bi-allelic variants in OGDHL with a range of neurological and neurodevelopmental phenotypes including epilepsy, hearing\r\nloss, visual impairment, gait ataxia, microcephaly, and hypoplastic corpus callosum.\r\n\r\nHomozygous and compound heterozygous variants reported. Variant types reported include missense, PTCs and a synonymous variant that was shown to affect splicing.\r\n\r\nFunctional studies with a CRISPR-Cas9-mediated tissue knockout with cDNA rescue system showed that the missense variants result in loss-of-function. \nSources: Literature","entity_name":"OGDHL","entity_type":"gene"},{"created":"2021-12-03T14:51:01.216529+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4322","user_name":"Melanie Marty","item_type":"entity","text":"Deleted their comment","entity_name":"OGDHL","entity_type":"gene"},{"created":"2021-12-03T14:50:42.556665+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4322","user_name":"Melanie Marty","item_type":"entity","text":"edited their review of gene: OGDHL: Added comment: Nine individuals from eight unrelated families carrying bi-allelic variants in OGDHL with a range of neurological and neurodevelopmental phenotypes including epilepsy, hearing\r\nloss, visual impairment, gait ataxia, microcephaly, and hypoplastic corpus callosum.\r\n\r\nHomozygous and compound heterozygous variants reported. Variant types reported include missense, PTCs and a synonymous variant that was shown to affect splicing.\r\n\r\nFunctional studies with a CRISPR-Cas9-mediated tissue knockout with cDNA rescue system showed that the missense variants result in loss-of-function.; Changed rating: GREEN","entity_name":"OGDHL","entity_type":"gene"},{"created":"2021-12-03T14:50:17.817729+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4322","user_name":"Melanie Marty","item_type":"entity","text":"commented on gene: OGDHL: Nine individuals from eight unrelated families carrying bi-allelic variants in OGDHL with a range of neurological and neurodevelopmental phenotypes including epilepsy, hearing\r\nloss, visual impairment, gait ataxia, microcephaly, and hypoplastic corpus callosum.\r\n\r\nHomozygous and compound heterozygous variants reported. Variant types reported include missense, PTCs and a synonymous variant that was shown to affect splicing.\r\n\r\nFunctional studies with a CRISPR-Cas9-mediated tissue knockout with cDNA rescue system showed that the missense variants result in loss-of-function.","entity_name":"OGDHL","entity_type":"gene"},{"created":"2021-12-03T14:50:11.285332+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4322","user_name":"Melanie Marty","item_type":"entity","text":"Deleted their comment","entity_name":"OGDHL","entity_type":"gene"},{"created":"2021-12-03T14:49:59.268710+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4322","user_name":"Melanie Marty","item_type":"entity","text":"changed review comment from: Nine individuals from eight unrelated families carrying bi-allelic variants in OGDHL with a range of neurological and neurodevelopmental phenotypes including epilepsy, hearing\r\nloss, visual impairment, gait ataxia, microcephaly, and hypoplastic corpus callosum.\r\n\r\nHomozygous and compound heterozygous variants reported. Variant types reported include missense, PTCs and a synonymous variant that was shown to affect splicing.\r\n\r\nFunctional studies with a CRISPR-Cas9-mediated tissue knockout with cDNA rescue system showed that the missense variants result in loss-of-function. \nSources: Literature; to: Nine individuals from eight unrelated families carrying bi-allelic variants in OGDHL with a range of neurological and neurodevelopmental phenotypes including epilepsy, hearing\r\nloss, visual impairment, gait ataxia, microcephaly, and hypoplastic corpus callosum.\r\n\r\nHomozygous and compound heterozygous variants reported. Variant types reported include missense, PTCs and a synonymous variant that was shown to affect splicing.\r\n\r\nFunctional studies with a CRISPR-Cas9-mediated tissue knockout with cDNA rescue system showed that the missense variants result in loss-of-function. \r\nSources: Literature","entity_name":"OGDHL","entity_type":"gene"},{"created":"2021-12-03T14:49:36.258999+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4322","user_name":"Melanie Marty","item_type":"entity","text":"gene: OGDHL was added\ngene: OGDHL was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: OGDHL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OGDHL were set to PMID: 34800363\nPhenotypes for gene: OGDHL were set to Neurodevelopmental disorder featuring epilepsy, hearing loss and visual impairment\nAdded comment: Nine individuals from eight unrelated families carrying bi-allelic variants in OGDHL with a range of neurological and neurodevelopmental phenotypes including epilepsy, hearing\r\nloss, visual impairment, gait ataxia, microcephaly, and hypoplastic corpus callosum.\r\n\r\nHomozygous and compound heterozygous variants reported. Variant types reported include missense, PTCs and a synonymous variant that was shown to affect splicing.\r\n\r\nFunctional studies with a CRISPR-Cas9-mediated tissue knockout with cDNA rescue system showed that the missense variants result in loss-of-function. \nSources: Literature","entity_name":"OGDHL","entity_type":"gene"},{"created":"2021-12-03T14:49:04.017014+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.678","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP5A1 were changed from Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228; Mitochondrial disorder, autosomal dominant to Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228; Mitochondrial disorder, autosomal dominant","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2021-12-03T14:48:23.240395+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.677","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP5A1 were changed from Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228 to Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228; Mitochondrial disorder, autosomal dominant","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2021-12-03T14:46:33.859343+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.676","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATP5A1 were set to 23599390","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2021-12-03T14:45:58.978760+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.675","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATP5A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2021-12-03T14:44:47.956450+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1397","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OGDHL as ready","entity_name":"OGDHL","entity_type":"gene"},{"created":"2021-12-03T14:44:47.946852+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1397","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ogdhl has been classified as Green List (High Evidence).","entity_name":"OGDHL","entity_type":"gene"},{"created":"2021-12-03T14:44:21.173168+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1397","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: OGDHL as Green List (high evidence)","entity_name":"OGDHL","entity_type":"gene"},{"created":"2021-12-03T14:44:21.162587+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1397","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ogdhl has been classified as Green List (High Evidence).","entity_name":"OGDHL","entity_type":"gene"},{"created":"2021-12-03T14:44:13.987956+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10027","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: OGDHL as ready","entity_name":"OGDHL","entity_type":"gene"},{"created":"2021-12-03T14:44:13.976810+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10027","user_name":"Alison Yeung","item_type":"entity","text":"Gene: ogdhl has been classified as Green List (High Evidence).","entity_name":"OGDHL","entity_type":"gene"},{"created":"2021-12-03T14:43:59.944035+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10027","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: OGDHL as Green List (high evidence)","entity_name":"OGDHL","entity_type":"gene"},{"created":"2021-12-03T14:43:59.934722+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10027","user_name":"Alison Yeung","item_type":"entity","text":"Gene: ogdhl has been classified as Green List (High Evidence).","entity_name":"OGDHL","entity_type":"gene"},{"created":"2021-12-03T14:43:52.085847+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1396","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OGDHL was added\ngene: OGDHL was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: OGDHL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OGDHL were set to 34800363\nPhenotypes for gene: OGDHL were set to Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment, and ataxia\nReview for gene: OGDHL was set to GREEN\nAdded comment: Nine individuals from eight unrelated families carrying bi-allelic variants in OGDHL with a range of neurological and neurodevelopmental phenotypes including epilepsy, hearing\r\nloss, visual impairment, gait ataxia, microcephaly, and hypoplastic corpus callosum.\r\n\r\nFour individuals had seizures.\r\n\r\nHomozygous and compound heterozygous variants reported. Variant types reported include missense, PTCs and a synonymous variant that was shown to affect splicing. \r\n\r\nFunctional studies with a CRISPR-Cas9-mediated tissue knockout with cDNA rescue system showed that the missense variants result in loss-of-function. \nSources: Literature","entity_name":"OGDHL","entity_type":"gene"},{"created":"2021-12-03T14:43:13.217896+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4322","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: FOXR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Other; Current diagnostic: yes","entity_name":"FOXR2","entity_type":"gene"},{"created":"2021-12-03T14:42:56.198274+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.674","user_name":"Naomi Baker","item_type":"entity","text":"reviewed gene: ATP5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 34483339; Phenotypes: feeding intolerance, failure to thrive, hyperammonemia, lactic acidemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2021-12-03T14:42:34.643548+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4322","user_name":"Paul De Fazio","item_type":"entity","text":"Deleted their review","entity_name":"FOXR2","entity_type":"gene"},{"created":"2021-12-03T14:41:18.633349+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.74","user_name":"Paul De Fazio","item_type":"entity","text":"gene: FOXR1 was added\ngene: FOXR1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: FOXR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FOXR1 were set to 34723967\nPhenotypes for gene: FOXR1 were set to Postnatal microcephaly, progressive brain atrophy and global developmental delay\nReview for gene: FOXR1 was set to AMBER\ngene: FOXR1 was marked as current diagnostic\nAdded comment: 1 patient described with a de novo missense variant. Phenotypes include: postnatal microcephaly, progressive brain atrophy, skeletal abnormalities, brain abnormalities, ophthalmic abnormalities, neuromuscular abnormalities, and dysmorphic features. A variant in ATP1A3 was considered to have contributed to the final phenotype.\r\n\r\nIn vitro functional evidence is supportive of pathogenicity (variant causes protein instability and abnormal nuclear aggregation).\r\n\r\nA mouse knockout has comparable phenotypes, and a severe survival deficit.\r\n\r\nRated amber (1 patient, functional evidence, mouse model). \nSources: Literature","entity_name":"FOXR1","entity_type":"gene"},{"created":"2021-12-03T14:41:08.103519+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10026","user_name":"Naomi Baker","item_type":"entity","text":"reviewed gene: ATP5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 34483339; Phenotypes: feeding intolerance, failure to thrive, hyperammonemia, lactic acidemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2021-12-03T14:40:26.735846+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4322","user_name":"Paul De Fazio","item_type":"entity","text":"edited their review of gene: FOXR2: Changed publications: -; Changed phenotypes: -","entity_name":"FOXR2","entity_type":"gene"},{"created":"2021-12-03T14:40:11.672287+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4322","user_name":"Paul De Fazio","item_type":"entity","text":"edited their review of gene: FOXR2: Changed rating: RED; Changed mode of inheritance: Other","entity_name":"FOXR2","entity_type":"gene"},{"created":"2021-12-03T14:40:06.249123+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.674","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLIRP as ready","entity_name":"SLIRP","entity_type":"gene"},{"created":"2021-12-03T14:40:06.236843+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.674","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slirp has been classified as Red List (Low Evidence).","entity_name":"SLIRP","entity_type":"gene"},{"created":"2021-12-03T14:39:54.411320+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4322","user_name":"Paul De Fazio","item_type":"entity","text":"changed review comment from: Geme added incorrectly.; to: Gene added incorrectly.","entity_name":"FOXR2","entity_type":"gene"},{"created":"2021-12-03T14:39:46.922564+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4322","user_name":"Paul De Fazio","item_type":"entity","text":"changed review comment from: 1 patient described with a de novo missense variant. Phenotypes include: postnatal microcephaly, progressive brain atrophy, skeletal abnormalities, brain abnormalities, ophthalmic abnormalities, neuromuscular abnormalities, and dysmorphic features. A variant in ATP1A3 was considered to have contributed to the final phenotype.\r\n\r\nIn vitro functional evidence is supportive of pathogenicity (variant causes protein instability and abnormal nuclear aggregation).\r\n\r\nA mouse knockout has comparable phenotypes, and a severe survival deficit.\r\n\r\nRated amber (1 patient, functional evidence, mouse model). \nSources: Literature; to: Geme added incorrectly.","entity_name":"FOXR2","entity_type":"gene"},{"created":"2021-12-03T14:39:41.263844+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.674","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLIRP as Red List (low evidence)","entity_name":"SLIRP","entity_type":"gene"},{"created":"2021-12-03T14:39:41.253384+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.674","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slirp has been classified as Red List (Low Evidence).","entity_name":"SLIRP","entity_type":"gene"},{"created":"2021-12-03T14:39:00.796791+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10026","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLIRP as ready","entity_name":"SLIRP","entity_type":"gene"},{"created":"2021-12-03T14:39:00.786354+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10026","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slirp has been classified as Red List (Low Evidence).","entity_name":"SLIRP","entity_type":"gene"},{"created":"2021-12-03T14:38:41.943330+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4322","user_name":"Paul De Fazio","item_type":"entity","text":"gene: FOXR1 was added\ngene: FOXR1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: FOXR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FOXR1 were set to 34723967\nPhenotypes for gene: FOXR1 were set to Postnatal microcephaly, progressive brain atrophy and global developmental delay\nMode of pathogenicity for gene: FOXR1 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: FOXR1 was set to AMBER\ngene: FOXR1 was marked as current diagnostic\nAdded comment: 1 patient described with a de novo missense variant. Phenotypes include: postnatal microcephaly, progressive brain atrophy, skeletal abnormalities, brain abnormalities, ophthalmic abnormalities, neuromuscular abnormalities, and dysmorphic features. A variant in ATP1A3 was considered to have contributed to the final phenotype.\r\n\r\nIn vitro functional evidence is supportive of pathogenicity (variant causes protein instability and abnormal nuclear aggregation).\r\n\r\nA mouse knockout has comparable phenotypes, and a severe survival deficit.\r\n\r\nRated amber (1 patient, functional evidence, mouse model). \nSources: Literature","entity_name":"FOXR1","entity_type":"gene"},{"created":"2021-12-03T14:38:28.381235+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10026","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLIRP as Red List (low evidence)","entity_name":"SLIRP","entity_type":"gene"},{"created":"2021-12-03T14:38:28.371007+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10026","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slirp has been classified as Red List (Low Evidence).","entity_name":"SLIRP","entity_type":"gene"},{"created":"2021-12-03T14:38:14.901896+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.673","user_name":"Belinda Chong","item_type":"entity","text":"gene: SLIRP was added\ngene: SLIRP was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: SLIRP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLIRP were set to 34426662\nPhenotypes for gene: SLIRP were set to Mitochondrial encephalomyopathy with complex I and IV deficiency\nAdded comment: Single Dutch non-consanguineous patient having mitochondrial encephalomyopathy with complex I and complex IV deficiency, whole exome sequencing revealed two compound heterozygous variants (NM_031210.5:c.248_252del; NP_112487.1:p.(Ile83Argfs*10) and NC_000014.8:g.78177003 A > G; NM_031210.5:c.98-178 A > G) in SLIRP. Report SLIRP variants as a novel cause of mitochondrial encephalomyopathy with OXPHOS deficiency\r\nSources: Literature \nSources: Literature","entity_name":"SLIRP","entity_type":"gene"},{"created":"2021-12-03T14:35:46.115786+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10025","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOXR1 as ready","entity_name":"FOXR1","entity_type":"gene"},{"created":"2021-12-03T14:35:46.106137+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10025","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxr1 has been classified as Amber List (Moderate Evidence).","entity_name":"FOXR1","entity_type":"gene"},{"created":"2021-12-03T14:35:34.090978+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10025","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FOXR1 as Amber List (moderate evidence)","entity_name":"FOXR1","entity_type":"gene"},{"created":"2021-12-03T14:35:34.080380+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10025","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxr1 has been classified as Amber List (Moderate Evidence).","entity_name":"FOXR1","entity_type":"gene"},{"created":"2021-12-03T14:34:48.133885+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10024","user_name":"Melanie Marty","item_type":"entity","text":"gene: OGDHL was added\ngene: OGDHL was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: OGDHL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OGDHL were set to PMID: 34800363\nPhenotypes for gene: OGDHL were set to Neurodevelopmental disorder featuring epilepsy, hearing loss, visual impairment, and ataxia\nReview for gene: OGDHL was set to GREEN\nAdded comment: Nine individuals from eight unrelated families carrying bi-allelic variants in OGDHL with a range of neurological and neurodevelopmental phenotypes including epilepsy, hearing\r\nloss, visual impairment, gait ataxia, microcephaly, and hypoplastic corpus callosum. \r\n\r\nHomozygous and compound heterozygous variants reported. Variant types reported include missense, PTCs and a synonymous variant that was shown to affect splicing. \r\n\r\nFunctional studies with a CRISPR-Cas9-mediated tissue knockout with cDNA rescue system showed that the missense variants result in loss-of-function. \nSources: Literature","entity_name":"OGDHL","entity_type":"gene"},{"created":"2021-12-03T14:34:16.679566+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.112","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: TAB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34456334; Phenotypes: Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like, Congenital heart defects, nonsyndromic, 2 (MIM#614980); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"TAB2","entity_type":"gene"},{"created":"2021-12-03T14:33:16.291726+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.152","user_name":"Chern Lim","item_type":"entity","text":"edited their review of gene: TAB2: Changed phenotypes: Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like, Congenital heart defects, nonsyndromic, 2 (MIM#614980)","entity_name":"TAB2","entity_type":"gene"},{"created":"2021-12-03T14:32:41.980727+11:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.92","user_name":"Chern Lim","item_type":"entity","text":"gene: TAB2 was added\ngene: TAB2 was added to Rasopathy. Sources: Literature\nMode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TAB2 were set to PMID: 34456334\nPhenotypes for gene: TAB2 were set to Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like; Congenital heart defects, nonsyndromic, 2 (MIM#614980)\nReview for gene: TAB2 was set to GREEN\ngene: TAB2 was marked as current diagnostic\nAdded comment: PMID: 34456334\r\n- Identified 11 patients with a deletion containing TAB2 (size 1.68–14.31 Mb) and 14 patients\r\nfrom six families with novel truncating TAB2 variants. \r\n- Twenty (80%) patients had cardiac disease, often mitral valve defects and/or cardiomyopathy, 18 (72%) had short stature and 18 (72%) had hypermobility. Twenty patients (80%) had facial features suggestive for Noonan syndrome. \r\n- Gene was previously associated with congenital heart defects and cardiomyopathy. \nSources: Literature","entity_name":"TAB2","entity_type":"gene"},{"created":"2021-12-03T14:30:43.950800+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10024","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: TAB2.","entity_name":"TAB2","entity_type":"gene"},{"created":"2021-12-03T14:30:05.683588+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10024","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TAB2 as ready","entity_name":"TAB2","entity_type":"gene"},{"created":"2021-12-03T14:30:05.672865+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10024","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tab2 has been classified as Green List (High Evidence).","entity_name":"TAB2","entity_type":"gene"},{"created":"2021-12-03T14:29:11.631049+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10024","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TAB2 were changed from  to Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like; Congenital heart defects, nonsyndromic, 2 (MIM#614980)","entity_name":"TAB2","entity_type":"gene"},{"created":"2021-12-03T14:28:23.693871+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10023","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TAB2 were set to ","entity_name":"TAB2","entity_type":"gene"},{"created":"2021-12-03T14:28:03.184508+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10022","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TAB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TAB2","entity_type":"gene"},{"created":"2021-12-03T14:27:37.448904+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.9","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: HIBADH as ready","entity_name":"HIBADH","entity_type":"gene"},{"created":"2021-12-03T14:27:37.439260+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.9","user_name":"Alison Yeung","item_type":"entity","text":"Gene: hibadh has been classified as Red List (Low Evidence).","entity_name":"HIBADH","entity_type":"gene"},{"created":"2021-12-03T14:26:58.003785+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.9","user_name":"Alison Yeung","item_type":"entity","text":"gene: HIBADH was added\ngene: HIBADH was added to Miscellaneous Metabolic Disorders. Sources: Literature\nMode of inheritance for gene: HIBADH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HIBADH were set to 34176136\nPhenotypes for gene: HIBADH were set to organic aciduria\nReview for gene: HIBADH was set to RED\nAdded comment: Single family reported with two siblings presenting with 3-Hydroxyisobutyric aciduria. Male sib with neurodevelopmental symptoms, female sibling asymptomatic. No functional studies \nSources: Literature","entity_name":"HIBADH","entity_type":"gene"},{"created":"2021-12-03T14:26:48.220826+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4322","user_name":"Paul De Fazio","item_type":"entity","text":"gene: FOXR2 was added\ngene: FOXR2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: FOXR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FOXR2 were set to 34723967\nPhenotypes for gene: FOXR2 were set to Postnatal microcephaly, progressive brain atrophy and global developmental delay\nReview for gene: FOXR2 was set to AMBER\ngene: FOXR2 was marked as current diagnostic\nAdded comment: 1 patient described with a de novo missense variant. Phenotypes include: postnatal microcephaly, progressive brain atrophy, skeletal abnormalities, brain abnormalities, ophthalmic abnormalities, neuromuscular abnormalities, and dysmorphic features. A variant in ATP1A3 was considered to have contributed to the final phenotype.\r\n\r\nIn vitro functional evidence is supportive of pathogenicity (variant causes protein instability and abnormal nuclear aggregation).\r\n\r\nA mouse knockout has comparable phenotypes, and a severe survival deficit.\r\n\r\nRated amber (1 patient, functional evidence, mouse model). \nSources: Literature","entity_name":"FOXR2","entity_type":"gene"}]}