{"count":220751,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1267","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1265","results":[{"created":"2021-07-19T09:21:57.217275+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8392","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POLG2 as ready","entity_name":"POLG2","entity_type":"gene"},{"created":"2021-07-19T09:21:57.203107+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8392","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polg2 has been classified as Green List (High Evidence).","entity_name":"POLG2","entity_type":"gene"},{"created":"2021-07-19T09:21:49.660347+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8392","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POLG2 were changed from  to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131; Mitochondrial DNA depletion syndrome 16 , MIM# 618528","entity_name":"POLG2","entity_type":"gene"},{"created":"2021-07-19T09:21:22.605867+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8391","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POLG2 were set to ","entity_name":"POLG2","entity_type":"gene"},{"created":"2021-07-19T09:21:01.925525+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8390","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: POLG2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"POLG2","entity_type":"gene"},{"created":"2021-07-19T09:20:48.898102+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.643","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POLG2 were changed from  to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131; Mitochondrial DNA depletion syndrome 16 , MIM# 618528","entity_name":"POLG2","entity_type":"gene"},{"created":"2021-07-19T09:20:37.462603+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8389","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POLG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16685652, 21555342, 27592148, 31778857; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131, Mitochondrial DNA depletion syndrome 16 , MIM# 618528; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"POLG2","entity_type":"gene"},{"created":"2021-07-19T09:20:18.447786+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.642","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POLG2 were set to ","entity_name":"POLG2","entity_type":"gene"},{"created":"2021-07-19T09:19:24.510963+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.641","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: POLG2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"POLG2","entity_type":"gene"},{"created":"2021-07-19T09:18:49.129816+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.640","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POLG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16685652, 21555342, 27592148, 31778857; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131, Mitochondrial DNA depletion syndrome 16 , MIM# 618528; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"POLG2","entity_type":"gene"},{"created":"2021-07-18T20:00:41.518036+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8389","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PCDHGC4 as ready","entity_name":"PCDHGC4","entity_type":"gene"},{"created":"2021-07-18T20:00:41.507572+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8389","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcdhgc4 has been classified as Green List (High Evidence).","entity_name":"PCDHGC4","entity_type":"gene"},{"created":"2021-07-18T19:58:17.460131+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8389","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PCDHGC4 as Green List (high evidence)","entity_name":"PCDHGC4","entity_type":"gene"},{"created":"2021-07-18T19:58:17.450656+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8389","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcdhgc4 has been classified as Green List (High Evidence).","entity_name":"PCDHGC4","entity_type":"gene"},{"created":"2021-07-18T19:57:46.177103+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8388","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PCDHGC4 was added\ngene: PCDHGC4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PCDHGC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCDHGC4 were set to 34244665\nPhenotypes for gene: PCDHGC4 were set to Intellectual disability; Seizures\nReview for gene: PCDHGC4 was set to GREEN\nAdded comment: Eight variants reported in 19 members of nine unreleted families with a neurodevelopmental syndrome. Severe or moderate intellectual disabilty in eight families and seizures in four families. Four of the variants were LoF, in silico analysis of the remaining missense (n=3) and splice variants were predicted to be pathogenic. \nSources: Literature","entity_name":"PCDHGC4","entity_type":"gene"},{"created":"2021-07-18T19:57:42.454563+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1144","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PCDHGC4 as Green List (high evidence)","entity_name":"PCDHGC4","entity_type":"gene"},{"created":"2021-07-18T19:57:42.443170+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1144","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcdhgc4 has been classified as Green List (High Evidence).","entity_name":"PCDHGC4","entity_type":"gene"},{"created":"2021-07-18T19:57:21.837882+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1143","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PCDHGC4 as Green List (high evidence)","entity_name":"PCDHGC4","entity_type":"gene"},{"created":"2021-07-18T19:57:21.827074+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1143","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcdhgc4 has been classified as Green List (High Evidence).","entity_name":"PCDHGC4","entity_type":"gene"},{"created":"2021-07-18T19:57:19.584719+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1142","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PCDHGC4 as ready","entity_name":"PCDHGC4","entity_type":"gene"},{"created":"2021-07-18T19:57:19.574362+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1142","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcdhgc4 has been classified as Red List (Low Evidence).","entity_name":"PCDHGC4","entity_type":"gene"},{"created":"2021-07-18T19:56:00.266193+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1142","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PCDHGC4 was added\ngene: PCDHGC4 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PCDHGC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCDHGC4 were set to 34244665\nPhenotypes for gene: PCDHGC4 were set to Intellectual disability; Seizures\nReview for gene: PCDHGC4 was set to GREEN\nAdded comment: Eight variants reported in 19 members of nine unreleted families with a neurodevelopmental syndrome. Severe or moderate intellectual disabilty in eight families and seizures in four families. Four of the variants were LoF, in silico analysis of the remaining missense (n=3) and splice variants were predicted to be pathogenic. \nSources: Literature","entity_name":"PCDHGC4","entity_type":"gene"},{"created":"2021-07-18T19:55:34.349903+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3985","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PCDHGC4 as ready","entity_name":"PCDHGC4","entity_type":"gene"},{"created":"2021-07-18T19:55:34.340487+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3985","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcdhgc4 has been classified as Green List (High Evidence).","entity_name":"PCDHGC4","entity_type":"gene"},{"created":"2021-07-18T19:54:45.755229+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3985","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PCDHGC4 as Green List (high evidence)","entity_name":"PCDHGC4","entity_type":"gene"},{"created":"2021-07-18T19:54:45.740601+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3985","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcdhgc4 has been classified as Green List (High Evidence).","entity_name":"PCDHGC4","entity_type":"gene"},{"created":"2021-07-18T19:54:11.841624+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3984","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PCDHGC4 was added\ngene: PCDHGC4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PCDHGC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCDHGC4 were set to 34244665\nPhenotypes for gene: PCDHGC4 were set to Intellectual disability; Seizures\nReview for gene: PCDHGC4 was set to GREEN\nAdded comment: Eight variants reported in 19 members of nine unreleted families with a neurodevelopmental syndrome. Severe or moderate intellectual disabilty in eight families and seizures in four families. Four of the variants were LoF, in silico analysis of the remaining missense (n=3) and splice variants were predicted to be pathogenic. \nSources: Literature","entity_name":"PCDHGC4","entity_type":"gene"},{"created":"2021-07-18T19:51:18.815655+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8387","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP6V0A4 as ready","entity_name":"ATP6V0A4","entity_type":"gene"},{"created":"2021-07-18T19:51:18.805025+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8387","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp6v0a4 has been classified as Green List (High Evidence).","entity_name":"ATP6V0A4","entity_type":"gene"},{"created":"2021-07-18T19:51:01.577575+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8387","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP6V0A4 were changed from  to Renal tubular acidosis, distal, autosomal recessive, MIM#602722","entity_name":"ATP6V0A4","entity_type":"gene"},{"created":"2021-07-18T19:50:38.759421+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8386","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATP6V0A4 were set to ","entity_name":"ATP6V0A4","entity_type":"gene"},{"created":"2021-07-18T19:50:19.863398+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8385","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATP6V0A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP6V0A4","entity_type":"gene"},{"created":"2021-07-18T19:49:58.356599+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8384","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATP6V0A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12414817, 10973252; Phenotypes: Renal tubular acidosis, distal, autosomal recessive, MIM#602722; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP6V0A4","entity_type":"gene"},{"created":"2021-07-18T19:48:44.197483+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3983","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP85L as ready","entity_name":"CEP85L","entity_type":"gene"},{"created":"2021-07-18T19:48:44.187982+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3983","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep85l has been classified as Green List (High Evidence).","entity_name":"CEP85L","entity_type":"gene"},{"created":"2021-07-18T19:47:09.890449+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3983","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CEP85L as Green List (high evidence)","entity_name":"CEP85L","entity_type":"gene"},{"created":"2021-07-18T19:47:09.880364+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3983","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep85l has been classified as Green List (High Evidence).","entity_name":"CEP85L","entity_type":"gene"},{"created":"2021-07-18T19:45:46.691847+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3982","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CEP85L was added\ngene: CEP85L was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review\nMode of inheritance for gene: CEP85L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CEP85L were set to 32097630\nPhenotypes for gene: CEP85L were set to Lissencephaly, posterior predominant\nReview for gene: CEP85L was set to GREEN\nAdded comment: Thirteen individuals reported with mono allelic variants in this gene, inherited in two of the families. Mouse model had neuronal migration defects. \nSources: Expert Review","entity_name":"CEP85L","entity_type":"gene"},{"created":"2021-07-18T18:57:16.807879+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8384","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ICK as ready","entity_name":"ICK","entity_type":"gene"},{"created":"2021-07-18T18:57:16.797038+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8384","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ick has been classified as Green List (High Evidence).","entity_name":"ICK","entity_type":"gene"},{"created":"2021-07-18T18:57:07.712480+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8384","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ICK were changed from  to Endocrine-cerebroosteodysplasia (MIM#612651)","entity_name":"ICK","entity_type":"gene"},{"created":"2021-07-18T18:56:48.792319+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8383","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ICK were set to ","entity_name":"ICK","entity_type":"gene"},{"created":"2021-07-18T18:56:29.916374+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8382","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ICK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ICK","entity_type":"gene"},{"created":"2021-07-18T18:55:37.412230+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8381","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HNF1B as ready","entity_name":"HNF1B","entity_type":"gene"},{"created":"2021-07-18T18:55:37.401960+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8381","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hnf1b has been classified as Green List (High Evidence).","entity_name":"HNF1B","entity_type":"gene"},{"created":"2021-07-18T18:55:16.351016+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8381","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: HNF1B.","entity_name":"HNF1B","entity_type":"gene"},{"created":"2021-07-18T18:55:02.781017+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8381","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HNF1B were changed from  to Renal cysts and diabetes syndrome, MIM# 137920","entity_name":"HNF1B","entity_type":"gene"},{"created":"2021-07-18T18:54:45.539260+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8380","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HNF1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HNF1B","entity_type":"gene"},{"created":"2021-07-18T18:54:29.170156+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8379","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Included due to phenotypic overlap with nephronophthisis.; to: Well established gene-disease association, CNVs common.","entity_name":"HNF1B","entity_type":"gene"},{"created":"2021-07-18T18:29:48.862012+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8379","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GDF1 as ready","entity_name":"GDF1","entity_type":"gene"},{"created":"2021-07-18T18:29:48.851625+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8379","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gdf1 has been classified as Green List (High Evidence).","entity_name":"GDF1","entity_type":"gene"},{"created":"2021-07-18T18:29:38.390835+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8379","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GDF1 were changed from  to Congenital heart defects, multiple types, 6 613854; Right atrial isomerism (Ivemark) 208530","entity_name":"GDF1","entity_type":"gene"},{"created":"2021-07-18T18:29:20.848422+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8378","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GDF1 were set to ","entity_name":"GDF1","entity_type":"gene"},{"created":"2021-07-18T18:29:07.676824+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8377","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GDF1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"GDF1","entity_type":"gene"},{"created":"2021-07-18T18:28:40.501209+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8376","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GDF1: Added comment: PMID: 32144877 - founder PTC in Arab population causing congenital heart detects AND right isomerism in 3 (unrelated?) families. Reviews other publications and reports additional chet (two PTC) or homozygous (missense) families with situs inversus and/or heart defects. No apparent genotype-phenotype correlation btw dominant and recessive disease.; Changed rating: GREEN; Changed publications: 32144877; Changed phenotypes: Congenital heart defects, multiple types, 6 613854, Right atrial isomerism (Ivemark) 208530; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GDF1","entity_type":"gene"},{"created":"2021-07-18T18:27:39.936001+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8376","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EVC2 as ready","entity_name":"EVC2","entity_type":"gene"},{"created":"2021-07-18T18:27:39.926842+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8376","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: evc2 has been classified as Green List (High Evidence).","entity_name":"EVC2","entity_type":"gene"},{"created":"2021-07-18T18:27:31.925772+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8376","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EVC2 were changed from  to Ellis-van Creveld syndrome (MIM#225500)","entity_name":"EVC2","entity_type":"gene"},{"created":"2021-07-18T18:27:16.234341+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8375","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EVC2 were set to ","entity_name":"EVC2","entity_type":"gene"},{"created":"2021-07-18T18:27:02.392955+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8374","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EVC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"EVC2","entity_type":"gene"},{"created":"2021-07-18T18:26:26.106522+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8373","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EVC as ready","entity_name":"EVC","entity_type":"gene"},{"created":"2021-07-18T18:26:26.095928+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8373","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: evc has been classified as Green List (High Evidence).","entity_name":"EVC","entity_type":"gene"},{"created":"2021-07-18T18:26:18.900393+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8373","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EVC were changed from  to Ellis-van Creveld syndrome, MIM# 225500","entity_name":"EVC","entity_type":"gene"},{"created":"2021-07-18T18:26:02.139462+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8372","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EVC were set to ","entity_name":"EVC","entity_type":"gene"},{"created":"2021-07-18T18:25:48.599954+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8371","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EVC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"EVC","entity_type":"gene"},{"created":"2021-07-18T18:23:31.463759+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8370","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DCDC2 as ready","entity_name":"DCDC2","entity_type":"gene"},{"created":"2021-07-18T18:23:31.453415+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8370","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dcdc2 has been classified as Green List (High Evidence).","entity_name":"DCDC2","entity_type":"gene"},{"created":"2021-07-18T18:23:23.629623+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8370","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DCDC2 were changed from  to Nephronophthisis 19, MIM# 616217; Sclerosing cholangitis, neonatal, MIM# 617394","entity_name":"DCDC2","entity_type":"gene"},{"created":"2021-07-18T18:23:09.051435+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8369","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DCDC2 were set to ","entity_name":"DCDC2","entity_type":"gene"},{"created":"2021-07-18T18:22:42.441017+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8368","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DCDC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DCDC2","entity_type":"gene"},{"created":"2021-07-18T18:22:22.246202+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8367","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Only a single case with nephronophthisis, most reports are for cholangitis, though zebrafish model has renal cysts.; to: At least 5 families reported with cholangitis, and two with nephronophthisis, though zebrafish model has renal cysts.","entity_name":"DCDC2","entity_type":"gene"},{"created":"2021-07-18T18:19:13.000777+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8367","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DCDC2: Changed rating: GREEN; Changed publications: 25557784, 27319779, 27469900; Changed phenotypes: Nephronophthisis 19, MIM# 616217, Sclerosing cholangitis, neonatal, MIM# 617394; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DCDC2","entity_type":"gene"},{"created":"2021-07-18T18:16:40.444616+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8367","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CRELD1 as ready","entity_name":"CRELD1","entity_type":"gene"},{"created":"2021-07-18T18:16:40.434552+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8367","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: creld1 has been classified as Green List (High Evidence).","entity_name":"CRELD1","entity_type":"gene"},{"created":"2021-07-18T18:16:32.372062+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8367","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CRELD1 were changed from  to Atrioventricular septal defect, partial, with heterotaxy syndrome, MIM# 606217","entity_name":"CRELD1","entity_type":"gene"},{"created":"2021-07-18T18:16:11.528851+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8366","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CRELD1 were set to ","entity_name":"CRELD1","entity_type":"gene"},{"created":"2021-07-18T18:15:53.680812+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8365","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CRELD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CRELD1","entity_type":"gene"},{"created":"2021-07-18T18:15:25.667804+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8364","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CRELD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22740159; Phenotypes: Atrioventricular septal defect, partial, with heterotaxy syndrome, MIM# 606217; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CRELD1","entity_type":"gene"},{"created":"2021-07-18T18:14:08.572736+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8364","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CRB2 as ready","entity_name":"CRB2","entity_type":"gene"},{"created":"2021-07-18T18:14:08.562365+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8364","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: crb2 has been classified as Green List (High Evidence).","entity_name":"CRB2","entity_type":"gene"},{"created":"2021-07-18T18:12:35.346934+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8364","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CRB2 were changed from  to Ventriculomegaly with cystic kidney disease, MIM# 219730; Focal segmental glomerulosclerosis 9, MIM# 616220","entity_name":"CRB2","entity_type":"gene"},{"created":"2021-07-18T18:12:15.574490+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8363","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CRB2 were set to ","entity_name":"CRB2","entity_type":"gene"},{"created":"2021-07-18T18:11:50.600531+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8362","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CRB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CRB2","entity_type":"gene"},{"created":"2021-07-18T18:11:34.880036+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8361","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: More than 7 unrelated families reported, mouse model. Some have presented predominantly with proteinuria, and some more with a multi-system ciliopathy phenotype, and yet others with RP.; to: VM with renal disease: More than 7 unrelated families reported, mouse model. Some have presented predominantly with proteinuria, and some more with a multi-system ciliopathy phenotype, and yet others with RP.\r\n\r\nFSGS: at least 4 families and animal model.","entity_name":"CRB2","entity_type":"gene"},{"created":"2021-07-18T18:11:02.805794+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8361","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CRB2: Changed publications: 25557780, 33687977, 32051522, 30212996, 33575434, 31438467, 30593785, 25557779; Changed phenotypes: Ventriculomegaly with cystic kidney disease, MIM# 219730, Focal segmental glomerulosclerosis 9, MIM# 616220","entity_name":"CRB2","entity_type":"gene"},{"created":"2021-07-18T18:09:31.310580+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8361","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP55 as ready","entity_name":"CEP55","entity_type":"gene"},{"created":"2021-07-18T18:09:31.301240+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8361","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep55 has been classified as Green List (High Evidence).","entity_name":"CEP55","entity_type":"gene"},{"created":"2021-07-18T18:09:22.860040+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8361","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP55 were changed from  to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM# 236500","entity_name":"CEP55","entity_type":"gene"},{"created":"2021-07-18T18:09:03.911984+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8360","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CEP55 were set to ","entity_name":"CEP55","entity_type":"gene"},{"created":"2021-07-18T18:08:45.704586+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8359","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CEP55 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP55","entity_type":"gene"},{"created":"2021-07-18T18:08:26.492825+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8358","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CEP55: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM# 236500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP55","entity_type":"gene"},{"created":"2021-07-18T17:00:02.096608+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8358","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CENPF as ready","entity_name":"CENPF","entity_type":"gene"},{"created":"2021-07-18T17:00:02.084735+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8358","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cenpf has been classified as Green List (High Evidence).","entity_name":"CENPF","entity_type":"gene"},{"created":"2021-07-18T16:59:50.859107+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8358","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CENPF were changed from  to Stromme syndrome (MIM#243605)","entity_name":"CENPF","entity_type":"gene"},{"created":"2021-07-18T16:59:30.125919+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8357","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CENPF were set to ","entity_name":"CENPF","entity_type":"gene"},{"created":"2021-07-18T16:59:10.338991+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8356","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CENPF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CENPF","entity_type":"gene"},{"created":"2021-07-18T16:58:02.095766+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8355","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C8orf37 as ready","entity_name":"C8orf37","entity_type":"gene"},{"created":"2021-07-18T16:58:02.080861+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8355","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c8orf37 has been classified as Green List (High Evidence).","entity_name":"C8orf37","entity_type":"gene"},{"created":"2021-07-18T16:57:54.560363+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8355","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: C8orf37 were changed from  to Bardet-Biedl syndrome 21, MIM#617406; Retinitis pigmentosa 64, MIM#614500","entity_name":"C8orf37","entity_type":"gene"},{"created":"2021-07-18T16:57:38.872558+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8354","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: C8orf37 were set to ","entity_name":"C8orf37","entity_type":"gene"}]}