{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1686","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1684","results":[{"created":"2020-08-07T09:40:20.108555+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3707","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hyls1 has been classified as Green List (High Evidence).","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T09:39:03.990166+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3707","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: HYLS1.","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T09:38:48.072349+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3707","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HYLS1 were changed from  to Hydrolethalus syndrome (MIM#236680)","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T09:38:36.329760+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3706","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HYLS1 were set to ","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T09:38:06.758380+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3705","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: HYLS1 was changed from  to Other","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T09:37:52.147235+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3704","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HYLS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-07T09:08:43.166257+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3703","user_name":"Melanie Marty","item_type":"entity","text":"reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: Other; Publications: 15843405, 18648327, 19400947, 19656802, 32509774; Phenotypes: Hydrolethalus syndrome (MIM#236680); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HYLS1","entity_type":"gene"},{"created":"2020-08-06T18:00:47.505945+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RAC1 as Amber List (moderate evidence)","entity_name":"RAC1","entity_type":"gene"},{"created":"2020-08-06T18:00:47.495997+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rac1 has been classified as Amber List (Moderate Evidence).","entity_name":"RAC1","entity_type":"gene"},{"created":"2020-08-06T18:00:20.223714+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RAC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30042656, 29276006, 30293988; Phenotypes: Mental retardation, autosomal dominant 48, MIM# 617751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAC1","entity_type":"gene"},{"created":"2020-08-06T17:57:47.693667+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2828","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAC1 as ready","entity_name":"RAC1","entity_type":"gene"},{"created":"2020-08-06T17:57:47.683901+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2828","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rac1 has been classified as Green List (High Evidence).","entity_name":"RAC1","entity_type":"gene"},{"created":"2020-08-06T17:57:35.420512+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2828","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAC1 were changed from Mental retardation, autosomal dominant 48, MIM# 617751 to Mental retardation, autosomal dominant 48, MIM# 617751","entity_name":"RAC1","entity_type":"gene"},{"created":"2020-08-06T17:57:22.219650+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2827","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAC1 were changed from Mental retardation, autosomal dominant 48 617751 to Mental retardation, autosomal dominant 48, MIM# 617751","entity_name":"RAC1","entity_type":"gene"},{"created":"2020-08-06T17:57:03.327154+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2827","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAC1 were changed from  to Mental retardation, autosomal dominant 48 617751","entity_name":"RAC1","entity_type":"gene"},{"created":"2020-08-06T17:56:36.413784+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2826","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAC1 were set to ","entity_name":"RAC1","entity_type":"gene"},{"created":"2020-08-06T17:55:23.428523+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2825","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: RAC1 was changed from  to Other","entity_name":"RAC1","entity_type":"gene"},{"created":"2020-08-06T17:54:59.389862+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2824","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RAC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAC1","entity_type":"gene"},{"created":"2020-08-06T17:54:21.526228+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2823","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RAC1: Changed phenotypes: Mental retardation, autosomal dominant 48 617751","entity_name":"RAC1","entity_type":"gene"},{"created":"2020-08-06T17:54:15.225574+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3703","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAC1 were changed from Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies (MIM#618577), AD to Mental retardation, autosomal dominant 48, MIM#\t617751","entity_name":"RAC1","entity_type":"gene"},{"created":"2020-08-06T17:53:26.131584+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2823","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RAC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30042656, 29276006, 30293988; Phenotypes: Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies (MIM#618577), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAC1","entity_type":"gene"},{"created":"2020-08-06T17:49:22.199990+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3702","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAC1 as ready","entity_name":"RAC1","entity_type":"gene"},{"created":"2020-08-06T17:49:22.192254+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3702","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rac1 has been classified as Green List (High Evidence).","entity_name":"RAC1","entity_type":"gene"},{"created":"2020-08-06T17:49:15.617895+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3702","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAC1 were changed from  to Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies (MIM#618577), AD","entity_name":"RAC1","entity_type":"gene"},{"created":"2020-08-06T17:49:00.177309+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3701","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAC1 were set to ","entity_name":"RAC1","entity_type":"gene"},{"created":"2020-08-06T17:48:42.767337+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3700","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: RAC1 was changed from  to Other","entity_name":"RAC1","entity_type":"gene"},{"created":"2020-08-06T17:48:27.918762+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3699","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RAC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAC1","entity_type":"gene"},{"created":"2020-08-06T17:29:42.425501+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3698","user_name":"Kristin Rigbye","item_type":"entity","text":"reviewed gene: RAC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 30042656, 29276006, 30293988; Phenotypes: Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies (MIM#618577), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAC1","entity_type":"gene"},{"created":"2020-08-06T16:02:09.163922+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3698","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FANCD2 as ready","entity_name":"FANCD2","entity_type":"gene"},{"created":"2020-08-06T16:02:09.152840+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3698","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fancd2 has been classified as Green List (High Evidence).","entity_name":"FANCD2","entity_type":"gene"},{"created":"2020-08-06T16:01:45.839480+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3698","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FANCD2 were changed from  to Fanconi anemia, complementation group D2, MIM#227646","entity_name":"FANCD2","entity_type":"gene"},{"created":"2020-08-06T16:01:23.481612+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3697","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FANCD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FANCD2","entity_type":"gene"},{"created":"2020-08-06T15:16:32.938938+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3696","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group D2, MIM#227646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FANCD2","entity_type":"gene"},{"created":"2020-08-06T14:14:55.254443+10:00","panel_name":"Cardiomyopathy_Adult_SuperPanel","panel_id":253,"panel_version":"0.309","user_name":"Zornitza Stark","item_type":"panel","text":"Panel name changed from Cardiomyopathy_SuperPanel to Cardiomyopathy_Adult_SuperPanel\nChanged child panels to: Hypertrophic cardiomyopathy_HCM; Dilated Cardiomyopathy; Arrhythmogenic Cardiomyopathy","entity_name":null,"entity_type":null},{"created":"2020-08-06T07:14:30.293341+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BCOR as ready","entity_name":"BCOR","entity_type":"gene"},{"created":"2020-08-06T07:14:30.281476+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bcor has been classified as Red List (Low Evidence).","entity_name":"BCOR","entity_type":"gene"},{"created":"2020-08-06T07:14:27.227332+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BCOR were changed from  to Microphthalmia, syndromic 2, MIM# 300166; Oculofaciocardiodental syndrome; Lenz microphthalmia","entity_name":"BCOR","entity_type":"gene"},{"created":"2020-08-06T07:14:01.142585+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BCOR were set to ","entity_name":"BCOR","entity_type":"gene"},{"created":"2020-08-06T07:13:36.591940+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.177","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BCOR was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"BCOR","entity_type":"gene"},{"created":"2020-08-06T07:13:14.861889+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BCOR as Red List (low evidence)","entity_name":"BCOR","entity_type":"gene"},{"created":"2020-08-06T07:13:14.851305+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bcor has been classified as Red List (Low Evidence).","entity_name":"BCOR","entity_type":"gene"},{"created":"2020-08-06T07:12:47.337585+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BCOR: Rating: RED; Mode of pathogenicity: None; Publications: 29974297; Phenotypes: Microphthalmia, syndromic 2, MIM# 300166, Oculofaciocardiodental syndrome, Lenz microphthalmia; 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":"BCOR","entity_type":"gene"},{"created":"2020-08-06T07:03:49.008088+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BCOR as ready","entity_name":"BCOR","entity_type":"gene"},{"created":"2020-08-06T07:03:48.993995+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bcor has been classified as Green List (High Evidence).","entity_name":"BCOR","entity_type":"gene"},{"created":"2020-08-06T07:03:46.062695+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BCOR were changed from  to Microphthalmia, syndromic 2, MIM# 300166; Oculofaciocardiodental syndrome; Lenz microphthalmia","entity_name":"BCOR","entity_type":"gene"},{"created":"2020-08-06T07:03:28.700392+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BCOR were set to ","entity_name":"BCOR","entity_type":"gene"},{"created":"2020-08-06T07:03:08.080978+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BCOR was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"BCOR","entity_type":"gene"},{"created":"2020-08-06T07:02:43.903990+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BCOR: Rating: GREEN; Mode of pathogenicity: None; Publications: 29974297; Phenotypes: Microphthalmia, syndromic 2, MIM# 300166, Oculofaciocardiodental syndrome, Lenz microphthalmia; 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":"BCOR","entity_type":"gene"},{"created":"2020-08-06T07:02:04.141752+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.225","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BCOR as ready","entity_name":"BCOR","entity_type":"gene"},{"created":"2020-08-06T07:02:04.133180+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.225","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bcor has been classified as Green List (High Evidence).","entity_name":"BCOR","entity_type":"gene"},{"created":"2020-08-06T07:02:01.607627+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.225","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BCOR were changed from  to Microphthalmia, syndromic 2, MIM# 300166; Oculofaciocardiodental syndrome; Lenz microphthalmia","entity_name":"BCOR","entity_type":"gene"},{"created":"2020-08-06T07:01:26.279923+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.224","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BCOR were set to ","entity_name":"BCOR","entity_type":"gene"},{"created":"2020-08-06T07:01:03.275284+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.223","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BCOR was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"BCOR","entity_type":"gene"},{"created":"2020-08-06T07:00:37.721132+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.222","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BCOR: Rating: GREEN; Mode of pathogenicity: None; Publications: 29974297; Phenotypes: Microphthalmia, syndromic 2, MIM# 300166, Oculofaciocardiodental syndrome, Lenz microphthalmia; 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":"BCOR","entity_type":"gene"},{"created":"2020-08-06T06:59:49.865719+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BCOR as ready","entity_name":"BCOR","entity_type":"gene"},{"created":"2020-08-06T06:59:49.854444+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bcor has been classified as Green List (High Evidence).","entity_name":"BCOR","entity_type":"gene"},{"created":"2020-08-06T06:59:46.742929+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BCOR were changed from  to Microphthalmia, syndromic 2, MIM# 300166; Oculofaciocardiodental syndrome; Lenz microphthalmia","entity_name":"BCOR","entity_type":"gene"},{"created":"2020-08-06T06:59:26.856724+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BCOR were set to ","entity_name":"BCOR","entity_type":"gene"},{"created":"2020-08-06T06:58:58.074802+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BCOR was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"BCOR","entity_type":"gene"},{"created":"2020-08-06T06:58:30.107763+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BCOR: Rating: GREEN; Mode of pathogenicity: None; Publications: 29974297; Phenotypes: Microphthalmia, syndromic 2, MIM# 300166, Oculofaciocardiodental syndrome, Lenz microphthalmia; 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":"BCOR","entity_type":"gene"},{"created":"2020-08-06T06:57:44.734078+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3696","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BCOR as ready","entity_name":"BCOR","entity_type":"gene"},{"created":"2020-08-06T06:57:44.725118+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3696","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bcor has been classified as Green List (High Evidence).","entity_name":"BCOR","entity_type":"gene"},{"created":"2020-08-06T06:57:38.637396+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3696","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BCOR were changed from  to Microphthalmia, syndromic 2, MIM# 300166; Oculofaciocardiodental syndrome; Lenz microphthalmia","entity_name":"BCOR","entity_type":"gene"},{"created":"2020-08-06T06:57:21.609263+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3695","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BCOR were set to ","entity_name":"BCOR","entity_type":"gene"},{"created":"2020-08-06T06:57:04.335925+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3694","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BCOR was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"BCOR","entity_type":"gene"},{"created":"2020-08-06T06:56:47.401479+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3693","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BCOR: Rating: GREEN; Mode of pathogenicity: None; Publications: 29974297; Phenotypes: Microphthalmia, syndromic 2, MIM# 300166, Oculofaciocardiodental syndrome, Lenz microphthalmia; 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":"BCOR","entity_type":"gene"},{"created":"2020-08-06T06:55:04.722761+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2823","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BCOR as ready","entity_name":"BCOR","entity_type":"gene"},{"created":"2020-08-06T06:55:04.712637+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2823","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bcor has been classified as Green List (High Evidence).","entity_name":"BCOR","entity_type":"gene"},{"created":"2020-08-06T06:55:00.937271+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2823","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BCOR were changed from  to Microphthalmia, syndromic 2, MIM# 300166; Oculofaciocardiodental syndrome; Lenz microphthalmia","entity_name":"BCOR","entity_type":"gene"},{"created":"2020-08-06T06:54:36.758644+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2822","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BCOR were set to ","entity_name":"BCOR","entity_type":"gene"},{"created":"2020-08-06T06:54:09.282464+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2821","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BCOR was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"BCOR","entity_type":"gene"},{"created":"2020-08-06T06:53:34.870649+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2820","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BCOR: Rating: GREEN; Mode of pathogenicity: None; Publications: 29974297; Phenotypes: Microphthalmia, syndromic 2, MIM# 300166, Oculofaciocardiodental syndrome, Lenz microphthalmia; 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":"BCOR","entity_type":"gene"},{"created":"2020-08-06T06:33:08.519806+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3693","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC25A10 were changed from Intractable epileptic encephalopathy to Intractable epileptic encephalopathy; Mitochondrial DNA depletion syndrome 19, MIM# 618972","entity_name":"SLC25A10","entity_type":"gene"},{"created":"2020-08-06T06:32:48.133422+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3692","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC25A10: Changed phenotypes: Intractable epileptic encephalopathy, Mitochondrial DNA depletion syndrome 19, MIM# 618972","entity_name":"SLC25A10","entity_type":"gene"},{"created":"2020-08-06T06:32:27.785913+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.459","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC25A10 were changed from Intractable epileptic encephalopathy to Intractable epileptic encephalopathy; Mitochondrial DNA depletion syndrome 19, MIM# 618972","entity_name":"SLC25A10","entity_type":"gene"},{"created":"2020-08-06T06:31:53.873067+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.458","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC25A10: Rating: AMBER; Mode of pathogenicity: None; Publications: 29211846; Phenotypes: Mitochondrial DNA depletion syndrome 19, MIM# 618972; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC25A10","entity_type":"gene"},{"created":"2020-08-05T18:37:02.700139+10:00","panel_name":"Cardiomyopathy_SuperPanel","panel_id":253,"panel_version":"0.296","user_name":"Zornitza Stark","item_type":"panel","text":"Changed child panels to: Hypertrophic cardiomyopathy_HCM; Dilated Cardiomyopathy; Arrhythmogenic Cardiomyopathy; Left Ventricular Non-compaction Cardiomyopathy; Cardiomyopathy_Paediatric","entity_name":null,"entity_type":null},{"created":"2020-08-05T18:31:43.718607+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-08-05T18:28:24.209607+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.153","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-08-05T18:22:11.162249+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.152","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GAA were changed from  to Glycogen storage disease II, MIM#232300","entity_name":"GAA","entity_type":"gene"},{"created":"2020-08-05T18:21:30.794069+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.151","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GAA were set to ","entity_name":"GAA","entity_type":"gene"},{"created":"2020-08-05T18:20:36.565297+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GAA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GAA","entity_type":"gene"},{"created":"2020-08-05T18:19:59.977220+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FHL1 as ready","entity_name":"FHL1","entity_type":"gene"},{"created":"2020-08-05T18:19:59.966981+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fhl1 has been classified as Green List (High Evidence).","entity_name":"FHL1","entity_type":"gene"},{"created":"2020-08-05T18:19:29.334389+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FHL1 as Green List (high evidence)","entity_name":"FHL1","entity_type":"gene"},{"created":"2020-08-05T18:19:29.324339+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fhl1 has been classified as Green List (High Evidence).","entity_name":"FHL1","entity_type":"gene"},{"created":"2020-08-05T18:18:52.668033+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FHL1 was added\ngene: FHL1 was added to Hypertrophic cardiomyopathy_HCM. Sources: Expert list\nMode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FHL1 were set to Emery-Dreifuss muscular dystrophy 6, X-linked, MIM#\t300696\nReview for gene: FHL1 was set to GREEN\nAdded comment: HCM is part of the phenotype. \nSources: Expert list","entity_name":"FHL1","entity_type":"gene"},{"created":"2020-08-05T18:16:54.749396+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CACNA1C as ready","entity_name":"CACNA1C","entity_type":"gene"},{"created":"2020-08-05T18:16:54.738434+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacna1c has been classified as Red List (Low Evidence).","entity_name":"CACNA1C","entity_type":"gene"},{"created":"2020-08-05T18:16:40.450234+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CACNA1C was added\ngene: CACNA1C was added to Hypertrophic cardiomyopathy_HCM. Sources: Expert list\nMode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CACNA1C were set to 26253506; 28490369; 28866666\nPhenotypes for gene: CACNA1C were set to Hypertrophic cardiomyopathy; congenital heart defects; conduction abnormalities\nReview for gene: CACNA1C was set to RED\nAdded comment: Recurrent missense at position p.Arg518Cys/His observed in three families with complex cardiac phenotype including HCM. Digenic/trigenic inheritance postulated in other families. \nSources: Expert list","entity_name":"CACNA1C","entity_type":"gene"},{"created":"2020-08-05T18:10:33.130663+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LAMA4 as ready","entity_name":"LAMA4","entity_type":"gene"},{"created":"2020-08-05T18:10:33.122242+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lama4 has been classified as Red List (Low Evidence).","entity_name":"LAMA4","entity_type":"gene"},{"created":"2020-08-05T16:59:31.123606+10:00","panel_name":"Hypertrophic cardiomyopathy_HCM","panel_id":111,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: HOCM can be a presenting feature of Fabry.; to: HCM can be a presenting feature of Fabry.","entity_name":"GLA","entity_type":"gene"},{"created":"2020-08-05T16:58:25.208488+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LDB3 as ready","entity_name":"LDB3","entity_type":"gene"},{"created":"2020-08-05T16:58:25.199960+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ldb3 has been classified as Amber List (Moderate Evidence).","entity_name":"LDB3","entity_type":"gene"},{"created":"2020-08-05T16:58:22.722415+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LDB3 were changed from  to Cardiomyopathy, dilated, 1C, with or without LVNC MIM#601493","entity_name":"LDB3","entity_type":"gene"},{"created":"2020-08-05T16:57:47.993620+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LDB3 were set to 26419279; 16427346; 14660611; 14662268","entity_name":"LDB3","entity_type":"gene"},{"created":"2020-08-05T16:57:30.596251+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LDB3 were set to ","entity_name":"LDB3","entity_type":"gene"},{"created":"2020-08-05T16:57:10.033288+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LDB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LDB3","entity_type":"gene"},{"created":"2020-08-05T16:56:55.738000+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LDB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LDB3","entity_type":"gene"}]}