{"count":220423,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=782","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=780","results":[{"created":"2022-08-12T10:45:22.773162+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PKP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PKP2","entity_type":"gene"},{"created":"2022-08-12T10:44:15.143577+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LMNA as ready","entity_name":"LMNA","entity_type":"gene"},{"created":"2022-08-12T10:44:15.135627+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lmna has been classified as Green List (High Evidence).","entity_name":"LMNA","entity_type":"gene"},{"created":"2022-08-12T10:44:11.705926+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LMNA were changed from  to Cardiomyopathy, dilated, 1A, MIM# 115200; Arrhythmogenic right ventricular cardiomyopathy; Lipodystrophy, familial partial, type 2, MIM# 151660; Emery-Dreifuss muscular dystrophy 2, MIM#181350; Mandibuloacral dysplasia 248370; Restrictive dermopathy, lethal 275210; Hutchinson-Gilford progeria 176670; Muscular dystrophy, congenital 613205","entity_name":"LMNA","entity_type":"gene"},{"created":"2022-08-12T10:43:46.961285+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LMNA were set to ","entity_name":"LMNA","entity_type":"gene"},{"created":"2022-08-12T10:43:20.627069+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LMNA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"LMNA","entity_type":"gene"},{"created":"2022-08-12T10:42:52.069351+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LMNA: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"LMNA","entity_type":"gene"},{"created":"2022-08-12T10:42:15.779276+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LMNA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LMNA","entity_type":"gene"},{"created":"2022-08-12T10:41:44.528903+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Association between LMNA and ARVC has been rated as LIMITED by ClinGen: small number of families reported where only some of the individuals with the variants had convincing ARVC phenotype. Rated Amber on this panel more due to phenotypic overlap with DCM and arrhythmias arising in this context. \nSources: Expert list; to: Established association with multiple phenotypes.","entity_name":"LMNA","entity_type":"gene"},{"created":"2022-08-12T10:41:11.063954+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LMNA: Changed rating: GREEN; Changed phenotypes: Cardiomyopathy, dilated, 1A, MIM# 115200, Arrhythmogenic right ventricular cardiomyopathy, Lipodystrophy, familial partial, type 2, MIM# 151660, Emery-Dreifuss muscular dystrophy 2, MIM#181350, Mandibuloacral dysplasia 248370, Restrictive dermopathy, lethal 275210, Hutchinson-Gilford progeria 176670, Muscular dystrophy, congenital 613205","entity_name":"LMNA","entity_type":"gene"},{"created":"2022-08-12T10:38:45.212814+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DSP as ready","entity_name":"DSP","entity_type":"gene"},{"created":"2022-08-12T10:38:45.204193+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.132","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":"2022-08-12T10:38:41.691437+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DSP were changed from  to Arrhythmogenic right ventricular dysplasia 8, MIM# 607450; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821; Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676; Epidermolysis bullosa, lethal acantholytic, MIM# 609638","entity_name":"DSP","entity_type":"gene"},{"created":"2022-08-12T10:38:15.030709+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DSP were set to ","entity_name":"DSP","entity_type":"gene"},{"created":"2022-08-12T10:37:25.737873+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DSP was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DSP","entity_type":"gene"},{"created":"2022-08-12T10:36:52.966595+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DSP: Added comment: Established gene-disease associations.; Changed phenotypes: Arrhythmogenic right ventricular dysplasia 8, MIM# 607450, Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821, Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676, Epidermolysis bullosa, lethal acantholytic, MIM# 609638","entity_name":"DSP","entity_type":"gene"},{"created":"2022-08-12T10:31:20.363075+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DSG2 as ready","entity_name":"DSG2","entity_type":"gene"},{"created":"2022-08-12T10:31:20.345659+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dsg2 has been classified as Green List (High Evidence).","entity_name":"DSG2","entity_type":"gene"},{"created":"2022-08-12T10:31:17.460829+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DSG2 were changed from  to Arrhythmogenic right ventricular dysplasia 10, MIM# 610193; Cardiomyopathy, dilated, 1BB, MIM# 612877","entity_name":"DSG2","entity_type":"gene"},{"created":"2022-08-12T10:30:53.052018+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DSG2 were set to ","entity_name":"DSG2","entity_type":"gene"},{"created":"2022-08-12T10:30:09.229327+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DSG2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DSG2","entity_type":"gene"},{"created":"2022-08-12T10:29:45.265479+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"DSG2","entity_type":"gene"},{"created":"2022-08-12T10:29:33.083472+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DSG2: Added comment: Assessed as LIMITED by ClinGen for mono-allelic variants and DCM:\r\n\r\nHuman genetic evidence supporting this gene-disease relationship includes one published definitive DCM case with truncating variant in DSG2 published by Garcia-Pavia et al (2011, PMID: 21859740). Of note, this person had limited ECG/arrhythmia phenotyping. Multiple other published variants have population frequencies which exclude them from scoring, as they are observed at a frequency higher than would be expected to have a pathogenic effect. In addition, this gene-disease association is supported by experimental evidence from postnatal DCM hearts showing reduced DSG2 signal in myocardium and other intercalated disc proteins were normal(Kessler et al, 2017, PMID: 28764973). In summary, there is limited evidence to support this gene-disease relationship.\r\n\r\nBi-allelic variants and DCM: three families reported, two with missense variants.\r\n\r\nDEFINITIVE for ARVC.; Changed phenotypes: Arrhythmogenic right ventricular dysplasia 10, MIM# 610193, Cardiomyopathy, dilated, 1BB, MIM# 612877; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DSG2","entity_type":"gene"},{"created":"2022-08-12T10:28:22.741893+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DSG2 were set to 23071725","entity_name":"DSG2","entity_type":"gene"},{"created":"2022-08-12T10:27:56.390549+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DSG2 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DSG2","entity_type":"gene"},{"created":"2022-08-12T10:27:29.972620+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DSG2 as Amber List (moderate evidence)","entity_name":"DSG2","entity_type":"gene"},{"created":"2022-08-12T10:27:29.961172+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dsg2 has been classified as Amber List (Moderate Evidence).","entity_name":"DSG2","entity_type":"gene"},{"created":"2022-08-12T10:26:46.036989+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Assessed as LIMITED by ClinGen for mono-allelic variants:\r\n\r\nHuman genetic evidence supporting this gene-disease relationship includes one published definitive DCM case with truncating variant in DSG2 published by Garcia-Pavia et al (2011, PMID: 21859740). Of note, this person had limited ECG/arrhythmia phenotyping. Multiple other published variants have population frequencies which exclude them from scoring, as they are observed at a frequency higher than would be expected to have a pathogenic effect. In addition, this gene-disease association is supported by experimental evidence from postnatal DCM hearts showing reduced DSG2 signal in myocardium and other intercalated disc proteins were normal(Kessler et al, 2017, PMID: 28764973). In summary, there is limited evidence to support this gene-disease relationship.\r\n\r\nBi-allelic variants: three families reported.; to: Assessed as LIMITED by ClinGen for mono-allelic variants:\r\n\r\nHuman genetic evidence supporting this gene-disease relationship includes one published definitive DCM case with truncating variant in DSG2 published by Garcia-Pavia et al (2011, PMID: 21859740). Of note, this person had limited ECG/arrhythmia phenotyping. Multiple other published variants have population frequencies which exclude them from scoring, as they are observed at a frequency higher than would be expected to have a pathogenic effect. In addition, this gene-disease association is supported by experimental evidence from postnatal DCM hearts showing reduced DSG2 signal in myocardium and other intercalated disc proteins were normal(Kessler et al, 2017, PMID: 28764973). In summary, there is limited evidence to support this gene-disease relationship.\r\n\r\nBi-allelic variants: three families reported, two with missense variants.\r\n\r\nDEFINITIVE for ARVC.","entity_name":"DSG2","entity_type":"gene"},{"created":"2022-08-12T10:25:19.464506+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Assessed as LIMITED by ClinGen for mono-allelic variants:\r\n\r\nHuman genetic evidence supporting this gene-disease relationship includes one published definitive DCM case with truncating variant in DSG2 published by Garcia-Pavia et al (2011, PMID: 21859740). Of note, this person had limited ECG/arrhythmia phenotyping. Multiple other published variants have population frequencies which exclude them from scoring, as they are observed at a frequency higher than would be expected to have a pathogenic effect. In addition, this gene-disease association is supported by experimental evidence from postnatal DCM hearts showing reduced DSG2 signal in myocardium and other intercalated disc proteins were normal(Kessler et al, 2017, PMID: 28764973). In summary, there is limited evidence to support this gene-disease relationship.\r\n\r\nBi-allelic variants: two families reported.; to: Assessed as LIMITED by ClinGen for mono-allelic variants:\r\n\r\nHuman genetic evidence supporting this gene-disease relationship includes one published definitive DCM case with truncating variant in DSG2 published by Garcia-Pavia et al (2011, PMID: 21859740). Of note, this person had limited ECG/arrhythmia phenotyping. Multiple other published variants have population frequencies which exclude them from scoring, as they are observed at a frequency higher than would be expected to have a pathogenic effect. In addition, this gene-disease association is supported by experimental evidence from postnatal DCM hearts showing reduced DSG2 signal in myocardium and other intercalated disc proteins were normal(Kessler et al, 2017, PMID: 28764973). In summary, there is limited evidence to support this gene-disease relationship.\r\n\r\nBi-allelic variants: three families reported.","entity_name":"DSG2","entity_type":"gene"},{"created":"2022-08-12T10:25:09.084635+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DSG2: Changed publications: 33949662, 18678517, 21859740, 28764973, 35941102","entity_name":"DSG2","entity_type":"gene"},{"created":"2022-08-12T10:24:13.502554+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DSG2: Rating: AMBER; Mode of pathogenicity: None; Publications: 33949662, 18678517, 21859740, 28764973; Phenotypes: Cardiomyopathy, dilated, 1BB, MIM# 612877; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DSG2","entity_type":"gene"},{"created":"2022-08-12T10:13:57.081065+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DSC2 as ready","entity_name":"DSC2","entity_type":"gene"},{"created":"2022-08-12T10:13:57.071521+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dsc2 has been classified as Green List (High Evidence).","entity_name":"DSC2","entity_type":"gene"},{"created":"2022-08-12T10:13:42.324796+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DSC2 were changed from  to Arrhythmogenic right ventricular dysplasia 11, MIM# 610476; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476","entity_name":"DSC2","entity_type":"gene"},{"created":"2022-08-12T10:13:02.455938+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DSC2 were set to ","entity_name":"DSC2","entity_type":"gene"},{"created":"2022-08-12T10:09:24.108088+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DSC2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"DSC2","entity_type":"gene"},{"created":"2022-08-12T10:00:06.058314+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4874","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: THUMPD1: Changed phenotypes: Neurodevelopmental disorder with speech delay and variable ocular anomalies, MIM# 619989; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"THUMPD1","entity_type":"gene"},{"created":"2022-08-12T09:59:40.413047+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.141","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: THUMPD1 were changed from Syndromic disease, MONDO:0002254, THUMPD1-related to Neurodevelopmental disorder with speech delay and variable ocular anomalies, MIM# 619989","entity_name":"THUMPD1","entity_type":"gene"},{"created":"2022-08-12T09:59:06.767432+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.140","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: THUMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with speech delay and variable ocular anomalies, MIM# 619989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"THUMPD1","entity_type":"gene"},{"created":"2022-08-12T09:58:49.427474+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.148","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: THUMPD1 were changed from Syndromic disease, MONDO:0002254, THUMPD1-related to Neurodevelopmental disorder with speech delay and variable ocular anomalies, MIM# 619989","entity_name":"THUMPD1","entity_type":"gene"},{"created":"2022-08-12T09:58:20.594593+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.147","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: THUMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with speech delay and variable ocular anomalies, MIM# 619989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"THUMPD1","entity_type":"gene"},{"created":"2022-08-12T09:57:52.741381+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.239","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: THUMPD1 were changed from Syndromic disease, MONDO:0002254, THUMPD1-related to Neurodevelopmental disorder with speech delay and variable ocular anomalies, MIM# 619989","entity_name":"THUMPD1","entity_type":"gene"},{"created":"2022-08-12T09:57:30.660704+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.238","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: THUMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with speech delay and variable ocular anomalies, MIM# 619989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"THUMPD1","entity_type":"gene"},{"created":"2022-08-12T09:55:14.307792+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OTULIN were changed from Susceptibility to infection with Staphylococcus aureus; Hereditary predisposition to infections, MONDO:0015979, OTULIN-related to Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection, MIM# 619986","entity_name":"OTULIN","entity_type":"gene"},{"created":"2022-08-12T09:54:43.784425+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: OTULIN: Changed phenotypes: Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection, MIM# 619986","entity_name":"OTULIN","entity_type":"gene"},{"created":"2022-08-12T09:54:19.934597+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.238","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OTULIN were changed from Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099; Susceptibility to infection with Staphylococcus aureus; Hereditary predisposition to infections, MONDO:0015979, OTULIN-related to Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099; Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection, MIM# 619986","entity_name":"OTULIN","entity_type":"gene"},{"created":"2022-08-12T09:52:45.219936+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.237","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: OTULIN: Changed phenotypes: Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099, Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection, MIM# 619986","entity_name":"OTULIN","entity_type":"gene"},{"created":"2022-08-11T17:33:38.201108+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GYS2 as ready","entity_name":"GYS2","entity_type":"gene"},{"created":"2022-08-11T17:33:38.189498+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gys2 has been classified as Red List (Low Evidence).","entity_name":"GYS2","entity_type":"gene"},{"created":"2022-08-11T17:33:33.024223+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GYS2 were set to ","entity_name":"GYS2","entity_type":"gene"},{"created":"2022-08-11T17:33:22.157067+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GYS2 as Red List (low evidence)","entity_name":"GYS2","entity_type":"gene"},{"created":"2022-08-11T17:33:22.145177+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gys2 has been classified as Red List (Low Evidence).","entity_name":"GYS2","entity_type":"gene"},{"created":"2022-08-11T17:33:06.647647+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: GYS2.","entity_name":"GYS2","entity_type":"gene"},{"created":"2022-08-11T17:32:56.859938+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GYS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease 0, liver (MIM#240600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GYS2","entity_type":"gene"},{"created":"2022-08-11T17:28:25.586861+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GK: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"GK","entity_type":"gene"},{"created":"2022-08-11T17:28:13.808204+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GK as ready","entity_name":"GK","entity_type":"gene"},{"created":"2022-08-11T17:28:13.793236+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gk has been classified as Red List (Low Evidence).","entity_name":"GK","entity_type":"gene"},{"created":"2022-08-11T17:28:09.097310+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GK were set to ","entity_name":"GK","entity_type":"gene"},{"created":"2022-08-11T17:27:50.478159+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GK as Red List (low evidence)","entity_name":"GK","entity_type":"gene"},{"created":"2022-08-11T17:27:50.465456+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gk has been classified as Red List (Low Evidence).","entity_name":"GK","entity_type":"gene"},{"created":"2022-08-11T17:27:41.652141+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: GK.","entity_name":"GK","entity_type":"gene"},{"created":"2022-08-11T17:27:31.378981+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GK: Changed rating: RED; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GK","entity_type":"gene"},{"created":"2022-08-11T17:27:21.300902+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GK: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycerol kinase deficiency (MIM#307030); Mode of inheritance: None","entity_name":"GK","entity_type":"gene"},{"created":"2022-08-11T17:24:07.497205+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.119","user_name":"Crystle Lee","item_type":"entity","text":"gene: PCDH19 was added\ngene: PCDH19 was added to Reproductive Carrier Screen_VCGS. Sources: Literature\nMode of inheritance for gene: PCDH19 was set to Other\nPublications for gene: PCDH19 were set to 18469813; 30287595\nPhenotypes for gene: PCDH19 were set to Developmental and epileptic encephalopathy 9 (MIM#300088)\nReview for gene: PCDH19 was set to AMBER\nAdded comment: XLD. Affects heterozygous females, hemizygous males are mainly unaffected\r\n> 3 unrelated families with phenotype, > 3 de novo mutation carriers with phenotype\r\nEvidence of mosaicism and incomplete penetrance \nSources: Literature","entity_name":"PCDH19","entity_type":"gene"},{"created":"2022-08-11T17:21:34.852831+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FTCD as ready","entity_name":"FTCD","entity_type":"gene"},{"created":"2022-08-11T17:21:34.840940+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ftcd has been classified as Red List (Low Evidence).","entity_name":"FTCD","entity_type":"gene"},{"created":"2022-08-11T17:21:31.826582+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FTCD were changed from Glutamate formiminotransferase deficiency, 229100 (3) to Glutamate formiminotransferase deficiency (MIM#229100)","entity_name":"FTCD","entity_type":"gene"},{"created":"2022-08-11T17:21:17.846268+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FTCD as Red List (low evidence)","entity_name":"FTCD","entity_type":"gene"},{"created":"2022-08-11T17:21:17.836869+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ftcd has been classified as Red List (Low Evidence).","entity_name":"FTCD","entity_type":"gene"},{"created":"2022-08-11T17:21:07.233687+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: FTCD.","entity_name":"FTCD","entity_type":"gene"},{"created":"2022-08-11T17:20:57.517485+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FTCD: Rating: RED; Mode of pathogenicity: None; Publications: 29178637, 30740726; Phenotypes: Glutamate formiminotransferase deficiency (MIM#229100); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FTCD","entity_type":"gene"},{"created":"2022-08-11T17:15:40.798773+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EFNB1 as ready","entity_name":"EFNB1","entity_type":"gene"},{"created":"2022-08-11T17:15:40.787271+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: efnb1 has been classified as Green List (High Evidence).","entity_name":"EFNB1","entity_type":"gene"},{"created":"2022-08-11T17:15:37.715756+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EFNB1 were changed from Craniofrontonasal dysplasia, 304110 (3) to Craniofrontonasal dysplasia (MIM#304110)","entity_name":"EFNB1","entity_type":"gene"},{"created":"2022-08-11T17:15:17.782398+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: EFNB1.","entity_name":"EFNB1","entity_type":"gene"},{"created":"2022-08-11T17:15:07.631431+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EFNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniofrontonasal dysplasia (MIM#304110); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"EFNB1","entity_type":"gene"},{"created":"2022-08-11T17:11:40.104331+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CNGA3 as ready","entity_name":"CNGA3","entity_type":"gene"},{"created":"2022-08-11T17:11:40.095786+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cnga3 has been classified as Amber List (Moderate Evidence).","entity_name":"CNGA3","entity_type":"gene"},{"created":"2022-08-11T17:11:36.155365+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CNGA3 were set to ","entity_name":"CNGA3","entity_type":"gene"},{"created":"2022-08-11T17:11:25.866227+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CNGA3 as Amber List (moderate evidence)","entity_name":"CNGA3","entity_type":"gene"},{"created":"2022-08-11T17:11:25.854175+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cnga3 has been classified as Amber List (Moderate Evidence).","entity_name":"CNGA3","entity_type":"gene"},{"created":"2022-08-11T17:11:18.107614+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: CNGA3.","entity_name":"CNGA3","entity_type":"gene"},{"created":"2022-08-11T17:11:08.728902+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CNGA3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Achromatopsia 2 (MIM#216900); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CNGA3","entity_type":"gene"},{"created":"2022-08-11T17:05:55.314168+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.237","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: TAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 33875846, 28191890, 35904126; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, TAF4-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"TAF4","entity_type":"gene"},{"created":"2022-08-11T17:03:50.660290+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHM as ready","entity_name":"CHM","entity_type":"gene"},{"created":"2022-08-11T17:03:50.646299+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chm has been classified as Red List (Low Evidence).","entity_name":"CHM","entity_type":"gene"},{"created":"2022-08-11T17:03:47.415084+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHM were changed from Choroideremia to Choroideremia (MIM#303100)","entity_name":"CHM","entity_type":"gene"},{"created":"2022-08-11T17:03:37.845548+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHM were changed from Choroideremia to Choroideremia","entity_name":"CHM","entity_type":"gene"},{"created":"2022-08-11T17:03:33.146812+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CHM were set to 33110609; 27820636","entity_name":"CHM","entity_type":"gene"},{"created":"2022-08-11T17:03:32.671360+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CHM were set to ","entity_name":"CHM","entity_type":"gene"},{"created":"2022-08-11T17:03:19.911502+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CHM as Red List (low evidence)","entity_name":"CHM","entity_type":"gene"},{"created":"2022-08-11T17:03:19.902402+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chm has been classified as Red List (Low Evidence).","entity_name":"CHM","entity_type":"gene"},{"created":"2022-08-11T17:03:11.385831+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: CHM.","entity_name":"CHM","entity_type":"gene"},{"created":"2022-08-11T17:03:02.380922+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CHM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Choroideremia (MIM#303100); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"CHM","entity_type":"gene"},{"created":"2022-08-11T17:00:13.892415+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CASQ2 as ready","entity_name":"CASQ2","entity_type":"gene"},{"created":"2022-08-11T17:00:13.880859+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: casq2 has been classified as Green List (High Evidence).","entity_name":"CASQ2","entity_type":"gene"},{"created":"2022-08-11T17:00:05.966411+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CASQ2 were set to ","entity_name":"CASQ2","entity_type":"gene"},{"created":"2022-08-11T16:59:54.274390+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: CASQ2.","entity_name":"CASQ2","entity_type":"gene"},{"created":"2022-08-11T16:59:46.089142+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CASQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 2 (MIM#611938); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CASQ2","entity_type":"gene"},{"created":"2022-08-11T16:58:30.571802+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CARD9 as ready","entity_name":"CARD9","entity_type":"gene"}]}