{"count":220212,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=877","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=875","results":[{"created":"2022-04-21T14:18:52.256859+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13137","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"FDXR","entity_type":"gene"},{"created":"2022-04-21T14:13:34.219249+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13137","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: FFAR4 were set to ","entity_name":"FFAR4","entity_type":"gene"},{"created":"2022-04-21T14:13:05.036911+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13136","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: FDXR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"FDXR","entity_type":"gene"},{"created":"2022-04-21T14:08:54.626563+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13136","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"FDXR","entity_type":"gene"},{"created":"2022-04-21T14:08:22.941046+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13136","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: FFAR4 as Red List (low evidence)","entity_name":"FFAR4","entity_type":"gene"},{"created":"2022-04-21T14:08:22.927863+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13136","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ffar4 has been classified as Red List (Low Evidence).","entity_name":"FFAR4","entity_type":"gene"},{"created":"2022-04-21T14:06:23.065007+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13135","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: FFAR4: Rating: RED; Mode of pathogenicity: None; Publications: 22343897, 34043793; Phenotypes: {Obesity, susceptibility to} MIM#607514; Mode of inheritance: Unknown","entity_name":"FFAR4","entity_type":"gene"},{"created":"2022-04-21T13:37:48.155401+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13135","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their comment","entity_name":"FDXR","entity_type":"gene"},{"created":"2022-04-21T13:34:17.995678+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13135","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FDX2 as ready","entity_name":"FDX2","entity_type":"gene"},{"created":"2022-04-21T13:34:17.984039+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13135","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fdx2 has been classified as Green List (High Evidence).","entity_name":"FDX2","entity_type":"gene"},{"created":"2022-04-21T13:32:51.697058+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13135","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: FDX2 were changed from  to inborn mitochondrial myopathy MONDO:0009637","entity_name":"FDX2","entity_type":"gene"},{"created":"2022-04-21T13:30:38.590725+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13134","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: FDX2 were set to ","entity_name":"FDX2","entity_type":"gene"},{"created":"2022-04-21T13:29:19.157406+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13133","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: FDX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FDX2","entity_type":"gene"},{"created":"2022-04-21T13:28:09.769620+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13132","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: FDX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24281368, 28803783, 30010796, 35079622, 34905296; Phenotypes: inborn mitochondrial myopathy MONDO:0009637; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FDX2","entity_type":"gene"},{"created":"2022-04-21T12:42:52.837560+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13132","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FDFT1 as ready","entity_name":"FDFT1","entity_type":"gene"},{"created":"2022-04-21T12:42:52.818516+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13132","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fdft1 has been classified as Green List (High Evidence).","entity_name":"FDFT1","entity_type":"gene"},{"created":"2022-04-21T12:41:01.787791+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13132","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: FDFT1 were changed from  to squalene synthase deficiency MONDO:0032566","entity_name":"FDFT1","entity_type":"gene"},{"created":"2022-04-21T12:22:34.406676+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13131","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: FDFT1 were set to ","entity_name":"FDFT1","entity_type":"gene"},{"created":"2022-04-21T12:19:11.810956+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13130","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: FDFT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FDFT1","entity_type":"gene"},{"created":"2022-04-21T12:17:05.384092+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13129","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: FDFT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29909962; Phenotypes: squalene synthase deficiency MONDO:0032566; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FDFT1","entity_type":"gene"},{"created":"2022-04-21T11:34:44.245805+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13129","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FBXO7 as ready","entity_name":"FBXO7","entity_type":"gene"},{"created":"2022-04-21T11:34:44.234565+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13129","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fbxo7 has been classified as Green List (High Evidence).","entity_name":"FBXO7","entity_type":"gene"},{"created":"2022-04-21T11:33:52.118142+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13129","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: FBXO7 were changed from  to parkinsonian-pyramidal syndrome MONDO:0009830","entity_name":"FBXO7","entity_type":"gene"},{"created":"2022-04-21T11:32:19.732395+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13128","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: FBXO7 were set to ","entity_name":"FBXO7","entity_type":"gene"},{"created":"2022-04-21T11:32:01.942862+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13127","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: FBXW7 were changed from FBXW7-related neurodevelopmental syndrome; Wilms tumour predisposition to neurodevelopmental disorder MONDO:0700092; FBXW7-related neurodevelopmental syndrome; Wilms tumor MONDO:0006058","entity_name":"FBXW7","entity_type":"gene"},{"created":"2022-04-21T11:28:50.742171+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13126","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: FBXO7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FBXO7","entity_type":"gene"},{"created":"2022-04-21T11:26:37.798153+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13125","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: FBXO7: Rating: GREEN; Mode of pathogenicity: None; Publications: 18513678, 19038853, 34781237; Phenotypes: parkinsonian-pyramidal syndrome MONDO:0009830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"FBXO7","entity_type":"gene"},{"created":"2022-04-21T10:02:11.683040+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.114","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: RSPO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17041600, 18085567, 18250098, 18250097; Phenotypes: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal MIM#610644, Palmoplantar hyperkeratosis and true hermaphroditism MIM#610644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"RSPO1","entity_type":"gene"},{"created":"2022-04-21T10:01:18.056415+10:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.248","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: RSPO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17041600, 18085567, 18250098, 18250097; Phenotypes: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal MIM#610644, Palmoplantar hyperkeratosis and true hermaphroditism MIM#610644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"RSPO1","entity_type":"gene"},{"created":"2022-04-21T09:59:40.889316+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13125","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: RSPO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17041600, 18085567, 18250098, 18250097; Phenotypes: Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal MIM#610644, Palmoplantar hyperkeratosis and true hermaphroditism MIM#610644; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"RSPO1","entity_type":"gene"},{"created":"2022-04-21T09:48:30.058937+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13125","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FBP1 as ready","entity_name":"FBP1","entity_type":"gene"},{"created":"2022-04-21T09:48:30.043467+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13125","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fbp1 has been classified as Green List (High Evidence).","entity_name":"FBP1","entity_type":"gene"},{"created":"2022-04-21T09:46:06.268721+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13125","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: FBP1 were changed from  to fructose-1,6-bisphosphatase deficiency MONDO:0009251","entity_name":"FBP1","entity_type":"gene"},{"created":"2022-04-21T09:45:50.954128+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13124","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: FBRSL1 were changed from Malformation and intellectual disability syndrome to syndromic diseaseMONDO:0002254; Malformation and intellectual disability syndrome","entity_name":"FBRSL1","entity_type":"gene"},{"created":"2022-04-21T09:42:50.679617+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13123","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: FBP1 were set to ","entity_name":"FBP1","entity_type":"gene"},{"created":"2022-04-21T09:40:04.308216+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13122","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: FBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FBP1","entity_type":"gene"},{"created":"2022-04-21T09:39:18.086415+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13121","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: Well-established gene-disease association. Fructose-1,6-bisphosphatase (FBP1) deficiency is metabolic disorder characterised by episodic acute crises of lactic acidosis and ketotic hypoglycaemia, manifesting as hyperventilation, apneic spells, seizures, and/or coma. Both SNVs and CNVs have been reported.; to: Well-established gene-disease association. Fructose-1,6-bisphosphatase (FBP1) deficiency is a metabolic disorder characterised by episodic acute crises of lactic acidosis and ketotic hypoglycaemia, manifesting as hyperventilation, apneic spells, seizures, and/or coma. Both SNVs and CNVs have been reported.","entity_name":"FBP1","entity_type":"gene"},{"created":"2022-04-21T09:38:12.355365+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13121","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: FBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9382095, 12126934, 27101822, 30858132; Phenotypes: fructose-1,6-bisphosphatase deficiency MONDO:0009251; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"FBP1","entity_type":"gene"},{"created":"2022-04-20T19:54:48.560758+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4689","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835","entity_name":"CLPB","entity_type":"gene"},{"created":"2022-04-20T19:54:09.072942+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4688","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CLPB: Changed phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271, 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835","entity_name":"CLPB","entity_type":"gene"},{"created":"2022-04-20T19:53:41.977643+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813","entity_name":"CLPB","entity_type":"gene"},{"created":"2022-04-20T19:52:56.543982+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CLPB: Changed phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271, Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813","entity_name":"CLPB","entity_type":"gene"},{"created":"2022-04-20T19:52:34.080242+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.789","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813","entity_name":"CLPB","entity_type":"gene"},{"created":"2022-04-20T19:51:48.870955+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.788","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CLPB: Changed phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271, 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835, Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813","entity_name":"CLPB","entity_type":"gene"},{"created":"2022-04-20T19:51:13.192468+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1564","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835","entity_name":"CLPB","entity_type":"gene"},{"created":"2022-04-20T19:50:29.643060+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1563","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CLPB: Changed phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271, 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835","entity_name":"CLPB","entity_type":"gene"},{"created":"2022-04-20T19:50:00.899533+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13121","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813","entity_name":"CLPB","entity_type":"gene"},{"created":"2022-04-20T19:48:44.638553+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13120","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CLPB: Changed phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271, 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835, Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813","entity_name":"CLPB","entity_type":"gene"},{"created":"2022-04-20T19:40:09.846273+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4688","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GLRA2 as ready","entity_name":"GLRA2","entity_type":"gene"},{"created":"2022-04-20T19:40:09.834129+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4688","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: glra2 has been classified as Green List (High Evidence).","entity_name":"GLRA2","entity_type":"gene"},{"created":"2022-04-20T19:40:03.604985+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4688","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GLRA2 as Green List (high evidence)","entity_name":"GLRA2","entity_type":"gene"},{"created":"2022-04-20T19:40:03.591153+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4688","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: glra2 has been classified as Green List (High Evidence).","entity_name":"GLRA2","entity_type":"gene"},{"created":"2022-04-20T19:34:50.722960+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4687","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLRA2 was added\ngene: GLRA2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: GLRA2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: GLRA2 were set to 26370147; 20479760; 35294868\nPhenotypes for gene: GLRA2 were set to Intellectual developmental disorder, X-linked, syndromic, Pilorge type, MIM# 301076\nReview for gene: GLRA2 was set to GREEN\nAdded comment: More than 10 unrelated families reported. Both males and females affected, though some mothers are asymptomatic or mild. Zebrafish model. \nSources: Expert list","entity_name":"GLRA2","entity_type":"gene"},{"created":"2022-04-20T19:33:03.690724+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13120","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GLRA2 as ready","entity_name":"GLRA2","entity_type":"gene"},{"created":"2022-04-20T19:33:03.678703+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13120","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: glra2 has been classified as Green List (High Evidence).","entity_name":"GLRA2","entity_type":"gene"},{"created":"2022-04-20T19:32:51.515213+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13120","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GLRA2 as Green List (high evidence)","entity_name":"GLRA2","entity_type":"gene"},{"created":"2022-04-20T19:32:51.503563+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13120","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: glra2 has been classified as Green List (High Evidence).","entity_name":"GLRA2","entity_type":"gene"},{"created":"2022-04-20T19:32:32.790096+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13119","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLRA2 was added\ngene: GLRA2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: GLRA2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: GLRA2 were set to 26370147; 20479760; 35294868\nPhenotypes for gene: GLRA2 were set to Intellectual developmental disorder, X-linked, syndromic, Pilorge type, MIM#\t301076\nReview for gene: GLRA2 was set to GREEN\nAdded comment: More than 10 unrelated families reported. Both males and females affected, though some mothers are asymptomatic or mild. Zebrafish model. \nSources: Expert list","entity_name":"GLRA2","entity_type":"gene"},{"created":"2022-04-20T17:27:22.394621+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13118","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: FAT1 were changed from facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy to syndromic disease MONDO:0002254; facial dysmorphism; colobomatous microphthalmia; ptosis; syndactyly with or without nephropathy","entity_name":"FAT1","entity_type":"gene"},{"created":"2022-04-20T17:27:19.904893+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13117","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FASTKD2 as ready","entity_name":"FASTKD2","entity_type":"gene"},{"created":"2022-04-20T17:27:19.893588+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13117","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fastkd2 has been classified as Green List (High Evidence).","entity_name":"FASTKD2","entity_type":"gene"},{"created":"2022-04-20T17:25:06.126215+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13117","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: FASTKD2 were changed from  to FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632","entity_name":"FASTKD2","entity_type":"gene"},{"created":"2022-04-20T17:23:43.113208+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13116","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: FASTKD2 were set to ","entity_name":"FASTKD2","entity_type":"gene"},{"created":"2022-04-20T17:22:18.938130+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4686","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: FASTKD2 were set to 18771761; 28499982","entity_name":"FASTKD2","entity_type":"gene"},{"created":"2022-04-20T17:17:07.554606+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4685","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: FASTKD2 as Green List (high evidence)","entity_name":"FASTKD2","entity_type":"gene"},{"created":"2022-04-20T17:17:07.541624+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4685","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fastkd2 has been classified as Green List (High Evidence).","entity_name":"FASTKD2","entity_type":"gene"},{"created":"2022-04-20T17:16:26.707637+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4684","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: FASTKD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18771761, 28499982, 31944455, 34234304; Phenotypes: FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FASTKD2","entity_type":"gene"},{"created":"2022-04-20T17:13:29.719459+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1563","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: FASTKD2 were set to 18771761; 28499982","entity_name":"FASTKD2","entity_type":"gene"},{"created":"2022-04-20T17:12:32.069529+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1562","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: FASTKD2 as Green List (high evidence)","entity_name":"FASTKD2","entity_type":"gene"},{"created":"2022-04-20T17:12:32.053931+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1562","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fastkd2 has been classified as Green List (High Evidence).","entity_name":"FASTKD2","entity_type":"gene"},{"created":"2022-04-20T17:11:49.968760+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1561","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: FASTKD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18771761, 28499982, 31944455, 34234304; Phenotypes: FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FASTKD2","entity_type":"gene"},{"created":"2022-04-20T17:09:35.945815+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13115","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: FASTKD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18771761, 28499982, 31944455, 34234304; Phenotypes: FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FASTKD2","entity_type":"gene"},{"created":"2022-04-20T16:52:24.139495+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13115","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FASLG as ready","entity_name":"FASLG","entity_type":"gene"},{"created":"2022-04-20T16:52:24.125123+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13115","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: faslg has been classified as Green List (High Evidence).","entity_name":"FASLG","entity_type":"gene"},{"created":"2022-04-20T16:51:18.439014+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13115","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: FASLG were changed from  to autoimmune lymphoproliferative syndrome MONDO:0017979","entity_name":"FASLG","entity_type":"gene"},{"created":"2022-04-20T16:48:31.972522+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13114","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: FASLG were set to ","entity_name":"FASLG","entity_type":"gene"},{"created":"2022-04-20T16:43:38.261196+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13113","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: FASLG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FASLG","entity_type":"gene"},{"created":"2022-04-20T16:42:19.560750+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13112","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: FASLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 16627752, 17605793, 19794494, 8787672, 22857792, 33356695, 26334989, 25451160; Phenotypes: autoimmune lymphoproliferative syndrome MONDO:0017979; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FASLG","entity_type":"gene"},{"created":"2022-04-20T16:04:47.636304+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13112","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8504309; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency - MIM#312170; 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":"PDHA1","entity_type":"gene"},{"created":"2022-04-20T15:55:58.851101+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13112","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FAS as ready","entity_name":"FAS","entity_type":"gene"},{"created":"2022-04-20T15:55:58.837796+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13112","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fas has been classified as Green List (High Evidence).","entity_name":"FAS","entity_type":"gene"},{"created":"2022-04-20T15:45:28.655020+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13112","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: FAS were changed from  to autoimmune lymphoproliferative syndrome MONDO:0017979","entity_name":"FAS","entity_type":"gene"},{"created":"2022-04-20T15:42:35.176993+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13111","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: FAS were set to ","entity_name":"FAS","entity_type":"gene"},{"created":"2022-04-20T15:37:22.834050+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13110","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: FAS was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"FAS","entity_type":"gene"},{"created":"2022-04-20T15:32:50.620596+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13109","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FARSB as ready","entity_name":"FARSB","entity_type":"gene"},{"created":"2022-04-20T15:32:50.607128+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13109","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: farsb has been classified as Green List (High Evidence).","entity_name":"FARSB","entity_type":"gene"},{"created":"2022-04-20T15:32:13.857306+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13109","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: FAS: Rating: ; Mode of pathogenicity: None; Publications: 7540117, 7539157, 15459302, 33995372, 34171534; Phenotypes: autoimmune lymphoproliferative syndrome MONDO:0017979; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"FAS","entity_type":"gene"},{"created":"2022-04-20T15:21:31.458221+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13109","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: FARSB were changed from  to Rajab interstitial lung disease with brain calcifications 1 MONDO:0100215","entity_name":"FARSB","entity_type":"gene"},{"created":"2022-04-20T15:10:25.245934+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13108","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: FARSB were set to ","entity_name":"FARSB","entity_type":"gene"},{"created":"2022-04-20T15:03:41.818261+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13107","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: FARSB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FARSB","entity_type":"gene"},{"created":"2022-04-20T14:58:03.211242+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13106","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: FARSB: Rating: GREEN; Mode of pathogenicity: None; Publications: 29573043, 30014610, 29979980; Phenotypes: Rajab interstitial lung disease with brain calcifications 1 MONDO:0100215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"FARSB","entity_type":"gene"},{"created":"2022-04-20T14:56:36.649668+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13106","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FARS2 as ready","entity_name":"FARS2","entity_type":"gene"},{"created":"2022-04-20T14:56:36.638605+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13106","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fars2 has been classified as Green List (High Evidence).","entity_name":"FARS2","entity_type":"gene"},{"created":"2022-04-20T14:46:31.871408+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13106","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: FARS2 were changed from  to combined oxidative phosphorylation defect type 14 MONDO:0013986; hereditary spastic paraplegia 77 MONDO:0014882","entity_name":"FARS2","entity_type":"gene"},{"created":"2022-04-20T14:41:31.391144+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13105","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: FARS2 were set to ","entity_name":"FARS2","entity_type":"gene"},{"created":"2022-04-20T14:40:04.482514+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13104","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: FARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FARS2","entity_type":"gene"},{"created":"2022-04-20T14:33:53.132194+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13103","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: PDE6H: Rating: GREEN; Mode of pathogenicity: None; Publications: 22901948; Phenotypes: Achromatopsia 6 - MIM#610024; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PDE6H","entity_type":"gene"},{"created":"2022-04-20T14:20:39.517268+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13103","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30250868, 30177229, 29126765, 28043061; Phenotypes: combined oxidative phosphorylation defect type 14 MONDO:0013986, hereditary spastic paraplegia 77 MONDO:0014882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"FARS2","entity_type":"gene"},{"created":"2022-04-20T14:19:51.490282+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13103","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FAM58A as ready","entity_name":"FAM58A","entity_type":"gene"},{"created":"2022-04-20T14:19:51.473817+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13103","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fam58a has been classified as Green List (High Evidence).","entity_name":"FAM58A","entity_type":"gene"}]}