{"count":220314,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1338","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1336","results":[{"created":"2021-04-27T15:16:11.806289+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Three unrelated families and functional data. \nSources: Literature; to: Seven individuals from three unrelated families and functional data. \r\nSources: Literature","entity_name":"LIG3","entity_type":"gene"},{"created":"2021-04-27T15:14:33.601250+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LIG3 as ready","entity_name":"LIG3","entity_type":"gene"},{"created":"2021-04-27T15:14:33.590712+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lig3 has been classified as Green List (High Evidence).","entity_name":"LIG3","entity_type":"gene"},{"created":"2021-04-27T15:14:30.098382+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LIG3 as Green List (high evidence)","entity_name":"LIG3","entity_type":"gene"},{"created":"2021-04-27T15:14:30.072550+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lig3 has been classified as Green List (High Evidence).","entity_name":"LIG3","entity_type":"gene"},{"created":"2021-04-27T15:14:21.772294+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LIG3 was added\ngene: LIG3 was added to Gastrointestinal neuromuscular disease. Sources: Literature\nMode of inheritance for gene: LIG3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LIG3 were set to 33855352\nPhenotypes for gene: LIG3 were set to gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy\nReview for gene: LIG3 was set to GREEN\nAdded comment: Three unrelated families and functional data. \nSources: Literature","entity_name":"LIG3","entity_type":"gene"},{"created":"2021-04-27T15:13:20.418314+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7363","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LIG3 as ready","entity_name":"LIG3","entity_type":"gene"},{"created":"2021-04-27T15:13:20.408547+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7363","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lig3 has been classified as Green List (High Evidence).","entity_name":"LIG3","entity_type":"gene"},{"created":"2021-04-27T15:13:08.450623+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7363","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LIG3 as Green List (high evidence)","entity_name":"LIG3","entity_type":"gene"},{"created":"2021-04-27T15:13:08.441913+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7363","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lig3 has been classified as Green List (High Evidence).","entity_name":"LIG3","entity_type":"gene"},{"created":"2021-04-27T15:12:50.764054+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7362","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LIG3 was added\ngene: LIG3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: LIG3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LIG3 were set to 33855352\nPhenotypes for gene: LIG3 were set to gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy\nReview for gene: LIG3 was set to GREEN\nAdded comment: Three unrelated families and functional data. \nSources: Literature","entity_name":"LIG3","entity_type":"gene"},{"created":"2021-04-27T15:11:12.622721+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.604","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LIG3 as ready","entity_name":"LIG3","entity_type":"gene"},{"created":"2021-04-27T15:11:12.611493+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.604","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lig3 has been classified as Green List (High Evidence).","entity_name":"LIG3","entity_type":"gene"},{"created":"2021-04-27T15:10:41.038541+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.604","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LIG3 as Green List (high evidence)","entity_name":"LIG3","entity_type":"gene"},{"created":"2021-04-27T15:10:41.024041+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.604","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lig3 has been classified as Green List (High Evidence).","entity_name":"LIG3","entity_type":"gene"},{"created":"2021-04-27T15:09:52.615931+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7361","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: HNRNPDL as ready","entity_name":"HNRNPDL","entity_type":"gene"},{"created":"2021-04-27T15:09:52.607238+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7361","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: hnrnpdl has been classified as Green List (High Evidence).","entity_name":"HNRNPDL","entity_type":"gene"},{"created":"2021-04-27T15:02:18.835315+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7361","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: HNRNPDL as Green List (high evidence)","entity_name":"HNRNPDL","entity_type":"gene"},{"created":"2021-04-27T15:02:18.826853+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7361","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: hnrnpdl has been classified as Green List (High Evidence).","entity_name":"HNRNPDL","entity_type":"gene"},{"created":"2021-04-27T15:02:00.677456+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7360","user_name":"Bryony Thompson","item_type":"entity","text":"gene: HNRNPDL was added\ngene: HNRNPDL was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: HNRNPDL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HNRNPDL were set to 24647604; 31267206; 31995753; 32407983; 32904822; 32367994\nPhenotypes for gene: HNRNPDL were set to Muscular dystrophy, limb-girdle, autosomal dominant 3 MIM#609115\nReview for gene: HNRNPDL was set to GREEN\ngene: HNRNPDL was marked as current diagnostic\nAdded comment: At least 5 families reported with either D378H/N, and supporting functional assays demonstrating that these variants affect protein function. No other pathogenic variants have been reported. A VUS has been reported (along with another SETX variant) in an individual with a multi-system disorder, including a metabolic myopathy. \nSources: Expert list","entity_name":"HNRNPDL","entity_type":"gene"},{"created":"2021-04-27T14:58:58.325453+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.57","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: HNRNPDL were set to ","entity_name":"HNRNPDL","entity_type":"gene"},{"created":"2021-04-27T14:58:38.659644+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.56","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: HNRNPDL as ready","entity_name":"HNRNPDL","entity_type":"gene"},{"created":"2021-04-27T14:58:38.647060+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.56","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: hnrnpdl has been classified as Green List (High Evidence).","entity_name":"HNRNPDL","entity_type":"gene"},{"created":"2021-04-27T14:58:28.779072+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.56","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: HNRNPDL: Rating: GREEN; Mode of pathogenicity: None; Publications: 24647604, 31267206, 31995753, 32407983, 32904822, 32367994; Phenotypes: Muscular dystrophy, limb-girdle, autosomal dominant 3 MIM#609115; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"HNRNPDL","entity_type":"gene"},{"created":"2021-04-27T13:09:31.557474+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.603","user_name":"John Christodoulou","item_type":"entity","text":"gene: LIG3 was added\ngene: LIG3 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: LIG3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LIG3 were set to PMID: 33855352\nPhenotypes for gene: LIG3 were set to gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy\nPenetrance for gene: LIG3 were set to Complete\nReview for gene: LIG3 was set to GREEN\nAdded comment: Three families, each with multiple affected individuals with different biallelic LoF variants.\r\n\r\nSolid functional data presented - cell based and zebrafish model \nSources: Literature","entity_name":"LIG3","entity_type":"gene"},{"created":"2021-04-27T12:39:51.483572+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7359","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: JMJD1C as ready","entity_name":"JMJD1C","entity_type":"gene"},{"created":"2021-04-27T12:39:51.473085+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7359","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jmjd1c has been classified as Green List (High Evidence).","entity_name":"JMJD1C","entity_type":"gene"},{"created":"2021-04-27T12:39:42.540451+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7359","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: JMJD1C as Green List (high evidence)","entity_name":"JMJD1C","entity_type":"gene"},{"created":"2021-04-27T12:39:42.531251+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7359","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jmjd1c has been classified as Green List (High Evidence).","entity_name":"JMJD1C","entity_type":"gene"},{"created":"2021-04-27T12:39:24.671954+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7358","user_name":"Zornitza Stark","item_type":"entity","text":"gene: JMJD1C was added\ngene: JMJD1C was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: JMJD1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: JMJD1C were set to 26181491; 32996679\nPhenotypes for gene: JMJD1C were set to Intellectual disability\nReview for gene: JMJD1C was set to GREEN\nAdded comment: Reported in ID cohort (with Rett-like phenotypic overlap) with supporting functional studies (PMID: 26181491). 7 individuals with rare variants identified, and variants demonstrated to be de novo in 2, one with a Rett-like phenotype and the other with ID. Functional study of the JMJD1C mutant Rett syndrome patient demonstrated that the altered protein had abnormal subcellular localization, diminished activity to demethylate the DNA damage-response protein MDC1, and reduced binding to MECP2. JMJD1C protein shown to be widely expressed in brain regions and that its depletion compromised dendritic activity.\r\n\r\nSplice-disrupting JMJD1C variant reported in association with learning disability and myoclonic epilepsy (PMID 32996679).\r\n\r\nDisruption of gene due to balanced translocation (PMID 33591602) implicated in autism spectrum disease phenotype. \nSources: Expert Review","entity_name":"JMJD1C","entity_type":"gene"},{"created":"2021-04-27T12:36:21.482190+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3714","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: JMJD1C as ready","entity_name":"JMJD1C","entity_type":"gene"},{"created":"2021-04-27T12:36:21.469615+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3714","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jmjd1c has been classified as Green List (High Evidence).","entity_name":"JMJD1C","entity_type":"gene"},{"created":"2021-04-27T12:35:48.187115+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3714","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: JMJD1C as Green List (high evidence)","entity_name":"JMJD1C","entity_type":"gene"},{"created":"2021-04-27T12:35:48.169130+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3714","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jmjd1c has been classified as Green List (High Evidence).","entity_name":"JMJD1C","entity_type":"gene"},{"created":"2021-04-27T12:34:42.878245+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3713","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: JMJD1C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"JMJD1C","entity_type":"gene"},{"created":"2021-04-27T09:16:20.487416+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3713","user_name":"Chris Richmond","item_type":"entity","text":"gene: JMJD1C was added\ngene: JMJD1C was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review\nMode of inheritance for gene: JMJD1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: JMJD1C were set to 26181491; 32996679\nPhenotypes for gene: JMJD1C were set to Intellectual disability\nPenetrance for gene: JMJD1C were set to unknown\nReview for gene: JMJD1C was set to GREEN\nAdded comment: Reported in ID cohort (with Rett-like phenotypic overlap) with supporting functional studies (PMID: 26181491) \"Functional study of the JMJD1C mutant Rett syndrome patient demonstrated that the altered protein had abnormal subcellular localization, diminished activity to demethylate the DNA damage-response protein MDC1, and reduced binding to MECP2. We confirmed that JMJD1C protein is widely expressed in brain regions and that its depletion compromises dendritic activity.\"\r\n\r\nSplice-disrupting JMJD1C variant reported in association with learning disability and myoclonic epilepsy (PMID 32996679)\r\n\r\nDisruption of gene due to balanced translocation (PMID 33591602) implicated in autism spectrum disease phenotype. \nSources: Expert Review","entity_name":"JMJD1C","entity_type":"gene"},{"created":"2021-04-26T21:15:34.134839+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7357","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAVIN1 as ready","entity_name":"CAVIN1","entity_type":"gene"},{"created":"2021-04-26T21:15:34.124479+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7357","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cavin1 has been classified as Green List (High Evidence).","entity_name":"CAVIN1","entity_type":"gene"},{"created":"2021-04-26T21:15:27.426212+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7357","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CAVIN1 were changed from  to Lipodystrophy, congenital generalized, type 4, MIM# 613327; MONDO:0013225","entity_name":"CAVIN1","entity_type":"gene"},{"created":"2021-04-26T21:15:10.308703+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7356","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CAVIN1 were set to ","entity_name":"CAVIN1","entity_type":"gene"},{"created":"2021-04-26T21:14:56.890573+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7355","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CAVIN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CAVIN1","entity_type":"gene"},{"created":"2021-04-26T21:14:33.755820+10:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAVIN1 as ready","entity_name":"CAVIN1","entity_type":"gene"},{"created":"2021-04-26T21:14:33.746538+10:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cavin1 has been classified as Green List (High Evidence).","entity_name":"CAVIN1","entity_type":"gene"},{"created":"2021-04-26T21:14:28.910231+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7354","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CAVIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19726876, 20300641, 20684003, 18840361; Phenotypes: Lipodystrophy, congenital generalized, type 4, MIM# 613327, MONDO:0013225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CAVIN1","entity_type":"gene"},{"created":"2021-04-26T21:14:21.897056+10:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CAVIN1 were changed from  to Lipodystrophy, congenital generalized, type 4, MIM# 613327; MONDO:0013225","entity_name":"CAVIN1","entity_type":"gene"},{"created":"2021-04-26T21:13:53.781567+10:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CAVIN1 were set to ","entity_name":"CAVIN1","entity_type":"gene"},{"created":"2021-04-26T21:13:28.673078+10:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CAVIN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CAVIN1","entity_type":"gene"},{"created":"2021-04-26T21:12:58.950461+10:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CAVIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19726876, 20300641, 20684003, 18840361; Phenotypes: Lipodystrophy, congenital generalized, type 4, MIM# 613327, MONDO:0013225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CAVIN1","entity_type":"gene"},{"created":"2021-04-26T21:02:31.661057+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7354","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAV1 as ready","entity_name":"CAV1","entity_type":"gene"},{"created":"2021-04-26T21:02:31.650019+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7354","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cav1 has been classified as Green List (High Evidence).","entity_name":"CAV1","entity_type":"gene"},{"created":"2021-04-26T21:02:24.064143+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7354","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CAV1 were changed from  to Lipodystrophy, familial partial, type 7, autosomal dominant MIM# 606721; Lipodystrophy, congenital generalized, type 3, autosomal recessive, MIM# 612526","entity_name":"CAV1","entity_type":"gene"},{"created":"2021-04-26T21:02:06.815523+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7353","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CAV1 were set to ","entity_name":"CAV1","entity_type":"gene"},{"created":"2021-04-26T21:01:46.637473+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7352","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CAV1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CAV1","entity_type":"gene"},{"created":"2021-04-26T21:01:29.035299+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7351","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CAV1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18237401, 25898808, 11739396, 18211975, 27717241, 26176221, 33836561, 33776068, 32502478, 22474227, 28768485; Phenotypes: Lipodystrophy, familial partial, type 7, autosomal dominant MIM# 606721, Lipodystrophy, congenital generalized, type 3, autosomal recessive, MIM# 612526; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CAV1","entity_type":"gene"},{"created":"2021-04-26T20:57:54.299204+10:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAV1 as ready","entity_name":"CAV1","entity_type":"gene"},{"created":"2021-04-26T20:57:54.283460+10:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cav1 has been classified as Green List (High Evidence).","entity_name":"CAV1","entity_type":"gene"},{"created":"2021-04-26T20:57:51.427254+10:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CAV1 were changed from  to Lipodystrophy, familial partial, type 7, autosomal dominant MIM# 606721; Lipodystrophy, congenital generalized, type 3, autosomal recessive, MIM# 612526","entity_name":"CAV1","entity_type":"gene"},{"created":"2021-04-26T20:57:28.335989+10:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CAV1 were set to ","entity_name":"CAV1","entity_type":"gene"},{"created":"2021-04-26T20:56:58.710362+10:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CAV1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CAV1","entity_type":"gene"},{"created":"2021-04-26T20:56:32.567156+10:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CAV1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18237401, 25898808, 11739396, 18211975, 27717241, 26176221; Phenotypes: Lipodystrophy, familial partial, type 7, autosomal dominant MIM# 606721, Lipodystrophy, congenital generalized, type 3, autosomal recessive, MIM# 612526; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CAV1","entity_type":"gene"},{"created":"2021-04-26T20:46:34.099739+10:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BSCL2 as ready","entity_name":"BSCL2","entity_type":"gene"},{"created":"2021-04-26T20:46:34.086667+10:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bscl2 has been classified as Green List (High Evidence).","entity_name":"BSCL2","entity_type":"gene"},{"created":"2021-04-26T20:46:19.893425+10:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BSCL2 were changed from  to Lipodystrophy, congenital generalized, type 2, MIM# 269700; MONDO:0010020; Encephalopathy, progressive, with or without lipodystrophy, MIM# 615924; MONDO:0014402","entity_name":"BSCL2","entity_type":"gene"},{"created":"2021-04-26T20:45:55.188906+10:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BSCL2 were set to ","entity_name":"BSCL2","entity_type":"gene"},{"created":"2021-04-26T20:45:17.474240+10:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BSCL2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"BSCL2","entity_type":"gene"},{"created":"2021-04-26T20:44:45.495731+10:00","panel_name":"Lipodystrophy_Lipoatrophy","panel_id":130,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11479539, 15181077, 15126564, 23564749; Phenotypes: Lipodystrophy, congenital generalized, type 2, MIM# 269700, MONDO:0010020, Encephalopathy, progressive, with or without lipodystrophy, MIM# 615924, MONDO:0014402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BSCL2","entity_type":"gene"},{"created":"2021-04-26T20:28:21.533073+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7351","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AFF4 as ready","entity_name":"AFF4","entity_type":"gene"},{"created":"2021-04-26T20:28:21.519717+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7351","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aff4 has been classified as Green List (High Evidence).","entity_name":"AFF4","entity_type":"gene"},{"created":"2021-04-26T20:27:53.886883+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7351","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AFF4 were changed from  to CHOPS syndrome, MIM#616368; MONDO:0014609","entity_name":"AFF4","entity_type":"gene"},{"created":"2021-04-26T20:27:30.246616+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7350","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AFF4 were set to ","entity_name":"AFF4","entity_type":"gene"},{"created":"2021-04-26T20:27:12.012991+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7349","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AFF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AFF4","entity_type":"gene"},{"created":"2021-04-26T20:26:53.391672+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7348","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AFF4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25730767, 33248856, 31630891, 31058441; Phenotypes: CHOPS syndrome, MIM#616368, MONDO:0014609; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AFF4","entity_type":"gene"},{"created":"2021-04-26T20:26:27.735794+10:00","panel_name":"Hypertrichosis syndromes","panel_id":120,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AFF4 as ready","entity_name":"AFF4","entity_type":"gene"},{"created":"2021-04-26T20:26:27.720492+10:00","panel_name":"Hypertrichosis syndromes","panel_id":120,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aff4 has been classified as Green List (High Evidence).","entity_name":"AFF4","entity_type":"gene"},{"created":"2021-04-26T20:26:18.081999+10:00","panel_name":"Hypertrichosis syndromes","panel_id":120,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AFF4 were changed from  to CHOPS syndrome, MIM#616368; MONDO:0014609","entity_name":"AFF4","entity_type":"gene"},{"created":"2021-04-26T20:25:51.582554+10:00","panel_name":"Hypertrichosis syndromes","panel_id":120,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AFF4 were set to ","entity_name":"AFF4","entity_type":"gene"},{"created":"2021-04-26T20:25:28.618701+10:00","panel_name":"Hypertrichosis syndromes","panel_id":120,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AFF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AFF4","entity_type":"gene"},{"created":"2021-04-26T20:24:32.314850+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3713","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: AFF4: Changed mode of pathogenicity: Other; Changed publications: 25730767, 33248856, 31630891, 31058441; Changed phenotypes: CHOPS syndrome, MIM#616368, MONDO:0014609; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AFF4","entity_type":"gene"},{"created":"2021-04-26T20:24:03.342462+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3713","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: AFF4: Changed rating: GREEN","entity_name":"AFF4","entity_type":"gene"},{"created":"2021-04-26T20:23:56.276108+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3713","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Comment when marking as ready: At least 15 unrelated individuals reported.; to: Comment when marking as ready: At least 15 unrelated individuals reported.\r\n\r\nCdL-like, clinically recognisable phenotype, characterised by cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia.","entity_name":"AFF4","entity_type":"gene"},{"created":"2021-04-26T20:23:40.830404+10:00","panel_name":"Hypertrichosis syndromes","panel_id":120,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AFF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25730767, 33248856, 31630891, 31058441; Phenotypes: CHOPS syndrome, MIM#616368, MONDO:0014609; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AFF4","entity_type":"gene"},{"created":"2021-04-26T20:22:25.909609+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3713","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AFF4 as ready","entity_name":"AFF4","entity_type":"gene"},{"created":"2021-04-26T20:22:25.905091+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3713","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: At least 15 unrelated individuals reported.","entity_name":"AFF4","entity_type":"gene"},{"created":"2021-04-26T20:22:25.866878+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3713","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aff4 has been classified as Green List (High Evidence).","entity_name":"AFF4","entity_type":"gene"},{"created":"2021-04-26T20:22:09.298072+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3713","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AFF4 were changed from CHOPS syndrome, MIM#616368 to CHOPS syndrome, MIM#616368; MONDO:0014609","entity_name":"AFF4","entity_type":"gene"},{"created":"2021-04-26T20:21:11.999213+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3712","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AFF4 were set to 25730767","entity_name":"AFF4","entity_type":"gene"},{"created":"2021-04-26T20:19:11.801357+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3711","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AFF4 were changed from  to CHOPS syndrome, MIM#616368","entity_name":"AFF4","entity_type":"gene"},{"created":"2021-04-26T20:18:41.635450+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3710","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AFF4 were set to ","entity_name":"AFF4","entity_type":"gene"},{"created":"2021-04-26T20:18:15.818309+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3709","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: AFF4 was changed from  to Other","entity_name":"AFF4","entity_type":"gene"},{"created":"2021-04-26T20:17:48.720878+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3708","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AFF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AFF4","entity_type":"gene"},{"created":"2021-04-26T16:33:41.456820+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3707","user_name":"Teresa Zhao","item_type":"entity","text":"reviewed gene: AFF4: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25730767; Phenotypes: CHOPS syndrome, MIM#616368; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"AFF4","entity_type":"gene"},{"created":"2021-04-26T14:01:15.159579+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7348","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DNAJB13 as Green List (high evidence)","entity_name":"DNAJB13","entity_type":"gene"},{"created":"2021-04-26T14:01:15.145390+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7348","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajb13 has been classified as Green List (High Evidence).","entity_name":"DNAJB13","entity_type":"gene"},{"created":"2021-04-26T14:00:57.290594+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7347","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Additional individual identified by VCGS laboratory, homozygous LoF variant.; to: Additional individual identified by VCGS laboratory, homozygous LoF variant and PCD.","entity_name":"DNAJB13","entity_type":"gene"},{"created":"2021-04-26T14:00:48.414073+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7347","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Additional individual identified by VCGS laboratory.; to: Additional individual identified by VCGS laboratory, homozygous LoF variant.","entity_name":"DNAJB13","entity_type":"gene"},{"created":"2021-04-26T14:00:21.959724+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7347","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DNAJB13: Added comment: Additional individual identified by VCGS laboratory.; Changed rating: GREEN","entity_name":"DNAJB13","entity_type":"gene"},{"created":"2021-04-26T13:59:44.337927+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DNAJB13 as Green List (high evidence)","entity_name":"DNAJB13","entity_type":"gene"},{"created":"2021-04-26T13:59:44.328016+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajb13 has been classified as Green List (High Evidence).","entity_name":"DNAJB13","entity_type":"gene"},{"created":"2021-04-26T13:58:56.410668+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1066","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CACNA1D as ready","entity_name":"CACNA1D","entity_type":"gene"},{"created":"2021-04-26T13:58:56.401105+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1066","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacna1d has been classified as Green List (High Evidence).","entity_name":"CACNA1D","entity_type":"gene"}]}