{"count":220725,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1568","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1566","results":[{"created":"2020-09-29T18:49:02.584973+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.456","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DIAPH1 were changed from  to Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2020-09-29T18:48:41.072812+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.455","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DIAPH1 were set to ","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2020-09-29T18:48:15.873197+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.454","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: DIAPH1 was changed from  to None","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2020-09-29T18:47:58.461808+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.453","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DIAPH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2020-09-29T18:45:22.952844+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4633","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PRIMPOL: Changed rating: RED","entity_name":"PRIMPOL","entity_type":"gene"},{"created":"2020-09-29T13:27:11.766349+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4633","user_name":"Seb Lunke","item_type":"entity","text":"commented on gene: PRIMPOL","entity_name":"PRIMPOL","entity_type":"gene"},{"created":"2020-09-29T10:31:58.542897+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4633","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DFNB59 as ready","entity_name":"DFNB59","entity_type":"gene"},{"created":"2020-09-29T10:31:58.532232+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4633","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dfnb59 has been classified as Green List (High Evidence).","entity_name":"DFNB59","entity_type":"gene"},{"created":"2020-09-29T10:31:50.968796+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4633","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DFNB59 were changed from  to Deafness, autosomal recessive 59, MIM# 610220","entity_name":"DFNB59","entity_type":"gene"},{"created":"2020-09-29T10:31:30.996271+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4632","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DFNB59 were set to ","entity_name":"DFNB59","entity_type":"gene"},{"created":"2020-09-29T10:31:13.894095+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4631","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DFNB59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DFNB59","entity_type":"gene"},{"created":"2020-09-29T10:30:55.667327+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4630","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DFNB59: Rating: GREEN; Mode of pathogenicity: None; Publications: 16804542, 26166082, 22617256, 28964305, 17373699, 25631766, 28209736; Phenotypes: Deafness, autosomal recessive 59, MIM# 610220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DFNB59","entity_type":"gene"},{"created":"2020-09-29T10:30:00.151204+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.452","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DFNB59 as ready","entity_name":"DFNB59","entity_type":"gene"},{"created":"2020-09-29T10:30:00.123230+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.452","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dfnb59 has been classified as Green List (High Evidence).","entity_name":"DFNB59","entity_type":"gene"},{"created":"2020-09-29T10:29:57.601734+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.452","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DFNB59 were changed from  to Deafness, autosomal recessive 59, MIM# 610220","entity_name":"DFNB59","entity_type":"gene"},{"created":"2020-09-29T10:29:30.996183+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.451","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DFNB59 were set to ","entity_name":"DFNB59","entity_type":"gene"},{"created":"2020-09-29T10:29:08.689828+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.450","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DFNB59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DFNB59","entity_type":"gene"},{"created":"2020-09-29T10:28:43.135604+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.449","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: DEFINITIVE by ClinGen, over 50 affected individuals from more than 10 families reported, supportive functional data including animal models.; to: DEFINITIVE by ClinGen, over 50 affected individuals from more than 10 families reported, supportive functional data including animal models.\r\n\r\nNew HGNC name is PJVK.","entity_name":"DFNB59","entity_type":"gene"},{"created":"2020-09-29T10:28:31.628771+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.449","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DFNB59: Rating: GREEN; Mode of pathogenicity: None; Publications: 16804542, 26166082, 22617256, 28964305, 17373699, 25631766, 28209736; Phenotypes: Deafness, autosomal recessive 59, MIM# 610220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DFNB59","entity_type":"gene"},{"created":"2020-09-29T10:26:39.429632+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.449","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: DFNB59.","entity_name":"DFNB59","entity_type":"gene"},{"created":"2020-09-29T10:25:54.751565+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4630","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DFNA5 as ready","entity_name":"DFNA5","entity_type":"gene"},{"created":"2020-09-29T10:25:54.742686+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4630","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dfna5 has been classified as Green List (High Evidence).","entity_name":"DFNA5","entity_type":"gene"},{"created":"2020-09-29T10:25:46.231531+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4630","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DFNA5 were changed from  to Deafness, autosomal dominant 5, MIM# 600994","entity_name":"DFNA5","entity_type":"gene"},{"created":"2020-09-29T10:25:21.144303+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4629","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DFNA5 were set to ","entity_name":"DFNA5","entity_type":"gene"},{"created":"2020-09-29T10:24:55.427803+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4628","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DFNA5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DFNA5","entity_type":"gene"},{"created":"2020-09-29T10:24:08.289134+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4627","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: DFNA5.","entity_name":"DFNA5","entity_type":"gene"},{"created":"2020-09-29T10:23:54.842273+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4627","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DFNA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 9771715, 14676472, ​14559215, 24933359, 17868390, 24506266, 12853124, 14736743, 22848872; Phenotypes: Deafness, autosomal dominant 5, MIM# 600994; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DFNA5","entity_type":"gene"},{"created":"2020-09-29T10:22:49.861252+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.449","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DFNA5 as ready","entity_name":"DFNA5","entity_type":"gene"},{"created":"2020-09-29T10:22:49.856901+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.449","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: New HGNC approved name is GSDME","entity_name":"DFNA5","entity_type":"gene"},{"created":"2020-09-29T10:22:49.833944+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.449","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dfna5 has been classified as Green List (High Evidence).","entity_name":"DFNA5","entity_type":"gene"},{"created":"2020-09-29T10:22:23.250982+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.449","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DFNA5 were changed from  to Deafness, autosomal dominant 5, MIM# 600994","entity_name":"DFNA5","entity_type":"gene"},{"created":"2020-09-29T10:22:04.777229+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.448","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DFNA5 were set to ","entity_name":"DFNA5","entity_type":"gene"},{"created":"2020-09-29T10:21:41.768229+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.447","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DFNA5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DFNA5","entity_type":"gene"},{"created":"2020-09-29T10:21:16.669490+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.446","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: DFNA5.","entity_name":"DFNA5","entity_type":"gene"},{"created":"2020-09-29T10:21:07.476173+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.446","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DFNA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 9771715, 14676472, ​14559215, 24933359, 17868390, 24506266, 12853124, 14736743, 22848872; Phenotypes: Deafness, autosomal dominant 5, MIM# 600994; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DFNA5","entity_type":"gene"},{"created":"2020-09-29T10:17:53.383412+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.446","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL9A3 as ready","entity_name":"COL9A3","entity_type":"gene"},{"created":"2020-09-29T10:17:53.371865+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.446","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col9a3 has been classified as Green List (High Evidence).","entity_name":"COL9A3","entity_type":"gene"},{"created":"2020-09-29T10:17:49.603811+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.446","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL9A3 were changed from  to Stickler syndrome","entity_name":"COL9A3","entity_type":"gene"},{"created":"2020-09-29T10:17:25.835843+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.445","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COL9A3 were set to ","entity_name":"COL9A3","entity_type":"gene"},{"created":"2020-09-29T10:16:54.952624+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.444","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COL9A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"COL9A3","entity_type":"gene"},{"created":"2020-09-29T10:16:27.711149+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.443","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COL9A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30450842, 31090205, 24273071; Phenotypes: Stickler syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COL9A3","entity_type":"gene"},{"created":"2020-09-29T10:10:22.228461+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.89","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: C9orf72 as ready","entity_name":"C9orf72","entity_type":"str"},{"created":"2020-09-29T10:10:22.217537+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.89","user_name":"Bryony Thompson","item_type":"entity","text":"Str: c9orf72 has been classified as Green List (High Evidence).","entity_name":"C9orf72","entity_type":"str"},{"created":"2020-09-29T10:10:18.841564+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.89","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: C9orf72 as Green List (high evidence)","entity_name":"C9orf72","entity_type":"str"},{"created":"2020-09-29T10:10:18.831221+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.89","user_name":"Bryony Thompson","item_type":"entity","text":"Str: c9orf72 has been classified as Green List (High Evidence).","entity_name":"C9orf72","entity_type":"str"},{"created":"2020-09-29T10:08:12.297295+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.88","user_name":"Bryony Thompson","item_type":"entity","text":"STR: C9orf72 was added\nSTR: C9orf72 was added to Early-onset Parkinson disease. Sources: Expert list\nSTR tags were added to STR: C9orf72.\nMode of inheritance for STR: C9orf72 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: C9orf72 were set to 25577942; 31779815\nPhenotypes for STR: C9orf72 were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550\nReview for STR: C9orf72 was set to GREEN\nSTR: C9orf72 was marked as clinically relevant\nAdded comment: NG_031977​.1:g.5321GGGGCC[X] Repeat expansion affects the protein degradation pathways and may contribute to TDP‐43 accumulation Normal alleles: ≤25 G4C2 hexanucleotide repeat units generally considered normal Pathogenic high-penetrance alleles: ≥60 G4C2 hexanucleotide repeat units are considered pathogenic Note: The minimal size of a G4C2 pathogenic repeat is under debate: some studies consider repeats of >30 G4C2 hexanucleotide repeat units as pathogenic, whereas others use a cutoff of 60 G4C2 hexanucleotide repeat units. \nSources: Expert list","entity_name":"C9orf72","entity_type":"str"},{"created":"2020-09-29T10:03:50.246329+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.87","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: C9orf72 as No list","entity_name":"C9orf72","entity_type":"gene"},{"created":"2020-09-29T10:03:50.237090+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.87","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: c9orf72 has been removed from the panel.","entity_name":"C9orf72","entity_type":"gene"},{"created":"2020-09-29T10:03:12.626446+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.86","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: HTT as No list","entity_name":"HTT","entity_type":"gene"},{"created":"2020-09-29T10:03:12.616042+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.86","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: htt has been removed from the panel.","entity_name":"HTT","entity_type":"gene"},{"created":"2020-09-29T10:02:05.340148+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.85","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: RIC3 as ready","entity_name":"RIC3","entity_type":"gene"},{"created":"2020-09-29T10:02:05.330824+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.85","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ric3 has been classified as Red List (Low Evidence).","entity_name":"RIC3","entity_type":"gene"},{"created":"2020-09-29T10:01:45.487839+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.85","user_name":"Bryony Thompson","item_type":"entity","text":"gene: RIC3 was added\ngene: RIC3 was added to Early-onset Parkinson disease. Sources: Other\nMode of inheritance for gene: RIC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RIC3 were set to 27055476; 28153381; 28606768; 32794657\nPhenotypes for gene: RIC3 were set to Parkinson disease\nReview for gene: RIC3 was set to RED\nAdded comment: Segregation reported in a single Indian family (PMID: 27055476), with limited in vitro functional assays. The variant is present in the South Asian population in gnomAD v2.1 14/30,596 alleles. The association has not been replicated in any additional studies. \nSources: Other","entity_name":"RIC3","entity_type":"gene"},{"created":"2020-09-29T10:01:31.697072+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4627","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: RIC3 as ready","entity_name":"RIC3","entity_type":"gene"},{"created":"2020-09-29T10:01:31.684637+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4627","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ric3 has been classified as Red List (Low Evidence).","entity_name":"RIC3","entity_type":"gene"},{"created":"2020-09-29T10:00:17.032887+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4627","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: RIC3 as Red List (low evidence)","entity_name":"RIC3","entity_type":"gene"},{"created":"2020-09-29T10:00:17.015877+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4627","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ric3 has been classified as Red List (Low Evidence).","entity_name":"RIC3","entity_type":"gene"},{"created":"2020-09-29T09:59:54.529660+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4626","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: RIC3: Rating: RED; Mode of pathogenicity: None; Publications: 27055476, 28153381, 28606768, 32794657; Phenotypes: Parkinson disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RIC3","entity_type":"gene"},{"created":"2020-09-29T09:47:48.451686+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4626","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: PRIMPOL.","entity_name":"PRIMPOL","entity_type":"gene"},{"created":"2020-09-29T09:47:36.804577+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4626","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRIMPOL as Red List (low evidence)","entity_name":"PRIMPOL","entity_type":"gene"},{"created":"2020-09-29T09:47:36.790773+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4626","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: primpol has been classified as Red List (Low Evidence).","entity_name":"PRIMPOL","entity_type":"gene"},{"created":"2020-09-29T09:46:01.719060+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.506","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MIEF2 were changed from Progressive muscle weakness; Exercise intolerance; Ragged red and COX negative fibres; Complex I and IV deficiency to Combined oxidative phosphorylation deficiency 49, MIM# 619024; Progressive muscle weakness; Exercise intolerance; Ragged red and COX negative fibres; Complex I and IV deficiency","entity_name":"MIEF2","entity_type":"gene"},{"created":"2020-09-29T09:45:20.534386+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4625","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MIEF2 were changed from Progressive muscle weakness; Exercise intolerance; Ragged red and COX negative fibres; Complex I and IV deficiency to Combined oxidative phosphorylation deficiency 49, MIM# 619024; Progressive muscle weakness; Exercise intolerance; Ragged red and COX negative fibres; Complex I and IV deficiency","entity_name":"MIEF2","entity_type":"gene"},{"created":"2020-09-29T09:44:26.685741+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4624","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MRPS25 were changed from Dyskinetic cerebral palsy; Mitochondrial myopathy; Partial agenesis of the corpus callosum to Combined oxidative phosphorylation deficiency 50, MIM#\t619025; Dyskinetic cerebral palsy; Mitochondrial myopathy; Partial agenesis of the corpus callosum","entity_name":"MRPS25","entity_type":"gene"},{"created":"2020-09-29T09:44:01.025330+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4623","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MRPS25: Changed phenotypes: Combined oxidative phosphorylation deficiency 50, MIM# 619025, Dyskinetic cerebral palsy, Mitochondrial myopathy, Partial agenesis of the corpus callosum","entity_name":"MRPS25","entity_type":"gene"},{"created":"2020-09-29T09:43:41.167262+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.505","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MRPS25 were changed from Dyskinetic cerebral palsy; Mitochondrial myopathy; Partial agenesis of the corpus callosum to Combined oxidative phosphorylation deficiency 50, MIM#\t619025; Dyskinetic cerebral palsy; Mitochondrial myopathy; Partial agenesis of the corpus callosum","entity_name":"MRPS25","entity_type":"gene"},{"created":"2020-09-29T09:43:11.739749+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.504","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MRPS25: Changed phenotypes: Combined oxidative phosphorylation deficiency 50, MIM# 619025, Dyskinetic cerebral palsy, Mitochondrial myopathy, Partial agenesis of the corpus callosum","entity_name":"MRPS25","entity_type":"gene"},{"created":"2020-09-29T09:42:09.294748+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4623","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MIEF2: Changed phenotypes: Combined oxidative phosphorylation deficiency 49, MIM# 619024, Progressive muscle weakness, Exercise intolerance, Ragged red and COX negative fibres, Complex I and IV deficiency","entity_name":"MIEF2","entity_type":"gene"},{"created":"2020-09-29T09:41:49.748850+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.504","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MIEF2: Changed phenotypes: Combined oxidative phosphorylation deficiency 49, MIM# 619024, Progressive muscle weakness, Exercise intolerance, Ragged red and COX negative fibres, Complex I and IV deficiency","entity_name":"MIEF2","entity_type":"gene"},{"created":"2020-09-29T09:37:01.379978+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4623","user_name":"Sebastian Lunke","item_type":"entity","text":"reviewed gene: PRIMPOL: Rating: RED; Mode of pathogenicity: None; Publications: 23579484, 32375772, 25262353, 27230014, 25680975, 31560770; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PRIMPOL","entity_type":"gene"},{"created":"2020-09-29T07:00:20.905687+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.443","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL9A2 as ready","entity_name":"COL9A2","entity_type":"gene"},{"created":"2020-09-29T07:00:20.897137+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.443","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col9a2 has been classified as Green List (High Evidence).","entity_name":"COL9A2","entity_type":"gene"},{"created":"2020-09-29T07:00:18.442035+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.443","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL9A2 were changed from  to Stickler syndrome, type V, MIM# 614284","entity_name":"COL9A2","entity_type":"gene"},{"created":"2020-09-29T06:59:55.029202+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.442","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COL9A2 were set to ","entity_name":"COL9A2","entity_type":"gene"},{"created":"2020-09-29T06:59:27.941954+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.441","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COL9A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"COL9A2","entity_type":"gene"},{"created":"2020-09-29T06:59:04.324453+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.440","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COL9A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31090205, 21671392, 20686772, 27666725, 15802199, 15710493; Phenotypes: Stickler syndrome, type V, MIM# 614284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COL9A2","entity_type":"gene"},{"created":"2020-09-29T06:49:32.487725+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL4A5 as ready","entity_name":"COL4A5","entity_type":"gene"},{"created":"2020-09-29T06:49:32.475851+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col4a5 has been classified as Green List (High Evidence).","entity_name":"COL4A5","entity_type":"gene"},{"created":"2020-09-29T06:49:26.017824+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL4A5 were changed from  to Alport syndrome 1, X-linked, MIM# 301050","entity_name":"COL4A5","entity_type":"gene"},{"created":"2020-09-29T06:49:00.758901+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COL4A5 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":"COL4A5","entity_type":"gene"},{"created":"2020-09-29T06:48:37.119664+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COL4A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alport syndrome 1, X-linked, MIM# 301050; 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":"COL4A5","entity_type":"gene"},{"created":"2020-09-29T06:47:46.870309+10:00","panel_name":"Haematuria_Alport","panel_id":39,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL4A5 as ready","entity_name":"COL4A5","entity_type":"gene"},{"created":"2020-09-29T06:47:46.855174+10:00","panel_name":"Haematuria_Alport","panel_id":39,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col4a5 has been classified as Green List (High Evidence).","entity_name":"COL4A5","entity_type":"gene"},{"created":"2020-09-29T06:47:44.600328+10:00","panel_name":"Haematuria_Alport","panel_id":39,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL4A5 were changed from  to Alport syndrome 1, X-linked, MIM# 301050","entity_name":"COL4A5","entity_type":"gene"},{"created":"2020-09-29T06:47:20.462406+10:00","panel_name":"Haematuria_Alport","panel_id":39,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COL4A5 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":"COL4A5","entity_type":"gene"},{"created":"2020-09-29T06:46:55.996115+10:00","panel_name":"Haematuria_Alport","panel_id":39,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COL4A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alport syndrome 1, X-linked, MIM# 301050; 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":"COL4A5","entity_type":"gene"},{"created":"2020-09-29T06:46:21.091240+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4623","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL4A5 as ready","entity_name":"COL4A5","entity_type":"gene"},{"created":"2020-09-29T06:46:21.080822+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4623","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col4a5 has been classified as Green List (High Evidence).","entity_name":"COL4A5","entity_type":"gene"},{"created":"2020-09-29T06:46:14.446820+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4623","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL4A5 were changed from  to Alport syndrome 1, X-linked, MIM# 301050","entity_name":"COL4A5","entity_type":"gene"},{"created":"2020-09-29T06:45:55.489058+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4622","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COL4A5 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":"COL4A5","entity_type":"gene"},{"created":"2020-09-29T06:45:40.256367+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4621","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COL4A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alport syndrome 1, X-linked, MIM# 301050; 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":"COL4A5","entity_type":"gene"},{"created":"2020-09-29T06:44:48.558595+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.440","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL4A5 as ready","entity_name":"COL4A5","entity_type":"gene"},{"created":"2020-09-29T06:44:48.542868+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.440","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col4a5 has been classified as Green List (High Evidence).","entity_name":"COL4A5","entity_type":"gene"},{"created":"2020-09-29T06:44:46.211404+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.440","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL4A5 were changed from  to Alport syndrome 1, X-linked, MIM# 301050","entity_name":"COL4A5","entity_type":"gene"},{"created":"2020-09-29T06:44:22.386597+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.439","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COL4A5 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":"COL4A5","entity_type":"gene"},{"created":"2020-09-29T06:43:53.788731+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.438","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COL4A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alport syndrome 1, X-linked, MIM# 301050; 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":"COL4A5","entity_type":"gene"},{"created":"2020-09-29T06:39:53.198306+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.438","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL11A2 as ready","entity_name":"COL11A2","entity_type":"gene"},{"created":"2020-09-29T06:39:53.180306+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.438","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col11a2 has been classified as Green List (High Evidence).","entity_name":"COL11A2","entity_type":"gene"},{"created":"2020-09-29T06:39:45.963581+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.438","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL11A2 were changed from  to Deafness, autosomal dominant 13, MIM# 601868; Deafness, autosomal recessive 53, MIM# 609706; Otospondylomegaepiphyseal dysplasia, autosomal dominant, MIM# 184840; Otospondylomegaepiphyseal dysplasia, autosomal recessive, MIM# 215150","entity_name":"COL11A2","entity_type":"gene"},{"created":"2020-09-29T06:39:24.437421+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"0.437","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COL11A2 were set to 10581026; 25633957; 16033917","entity_name":"COL11A2","entity_type":"gene"}]}