{"count":221303,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1654","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1652","results":[{"created":"2020-08-26T21:49:55.168924+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX13 as ready","entity_name":"PEX13","entity_type":"gene"},{"created":"2020-08-26T21:49:55.159542+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex13 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX13","entity_type":"gene"},{"created":"2020-08-26T21:49:47.136994+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PEX13 as Amber List (moderate evidence)","entity_name":"PEX13","entity_type":"gene"},{"created":"2020-08-26T21:49:47.128481+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex13 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX13","entity_type":"gene"},{"created":"2020-08-26T21:49:19.950067+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX12 as ready","entity_name":"PEX12","entity_type":"gene"},{"created":"2020-08-26T21:49:19.939871+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex12 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX12","entity_type":"gene"},{"created":"2020-08-26T21:49:16.277755+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PEX12 as Amber List (moderate evidence)","entity_name":"PEX12","entity_type":"gene"},{"created":"2020-08-26T21:49:16.266970+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex12 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX12","entity_type":"gene"},{"created":"2020-08-26T21:49:15.220427+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.151","user_name":"Sarah Donoghue","item_type":"entity","text":"reviewed gene: ALG14: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30221345, PMID: 28733338, PMID: 23404334; Phenotypes: Intellectual disability, epilepsy, dysmorphic features, myasthenia, hypotonia, cerebral atrophy, contractures, congenital myasthenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG14","entity_type":"gene"},{"created":"2020-08-26T21:48:45.390870+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX19 as ready","entity_name":"PEX19","entity_type":"gene"},{"created":"2020-08-26T21:48:45.380360+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex19 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX19","entity_type":"gene"},{"created":"2020-08-26T21:48:41.402862+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PEX19 as Amber List (moderate evidence)","entity_name":"PEX19","entity_type":"gene"},{"created":"2020-08-26T21:48:41.394486+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex19 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX19","entity_type":"gene"},{"created":"2020-08-26T21:41:12.123915+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.151","user_name":"Sarah Donoghue","item_type":"entity","text":"edited their review of gene: ALG12: Added comment: Usually type I CDG pattern; Changed phenotypes: Dysmorphic features, Psychomotor delay, Seizures, Ocular abnormalities, Sensorineural hearing loss, Hypotonia, Failure to thrive/short stature, Cardiac Abnormalities, Genitourinary abnormalities, Recurrent infections, Hypogammaglobulinaemia, Coagulation abnormalities, Abnormal liver enzymes, Lipid abnormalities, Abnormal transferrin IEF, Abnormal brain imaging, Microcephaly, Skeletal malformations","entity_name":"ALG12","entity_type":"gene"},{"created":"2020-08-26T21:36:57.835683+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.151","user_name":"Sarah Donoghue","item_type":"entity","text":"reviewed gene: ALG12: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31481313; Phenotypes: Dysmorphic features, Psychomotor delay, Seizures, Ocular abnormalities, Sensorineural hearing loss, Hypotonia, Failure to thrive/short stature, Cardiac Abnormalities, Genitourinary abnormalities, Recurrent infections, Hypogammaglobulinaemia, Coagulation abnormalities, Abnormal liver enzymes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG12","entity_type":"gene"},{"created":"2020-08-26T21:23:39.090601+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.151","user_name":"Sarah Donoghue","item_type":"entity","text":"reviewed gene: ALG11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30676690; Phenotypes: Developmental disability, Epilepsy, Dysmorphic features, Microcephaly, Hypotonia, Hypertonia, Hyperreflexia, Sensorineural deafness, Eye/Visual Problems, Feeding problems; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"ALG11","entity_type":"gene"},{"created":"2020-08-26T21:14:07.854070+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.151","user_name":"Sarah Donoghue","item_type":"entity","text":"reviewed gene: ALG1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26931382; Phenotypes: Developmental delay, Intellectual disability, Hypotonia, Seizure/Epilepsy, Visual Involvement, Microcephaly, Abnormal Brain Imaging, Facial Dysmorphism, Haematological, Gastrointestinal, Skeletal Abnormalities, Hypoalbuminaemia, Recurrent infections, Liver dysfunction, Cardiac Abnormalities, Renal Abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"ALG1","entity_type":"gene"},{"created":"2020-08-26T19:16:30.956974+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3942","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NPRL2 as ready","entity_name":"NPRL2","entity_type":"gene"},{"created":"2020-08-26T19:16:30.948729+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3942","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nprl2 has been classified as Green List (High Evidence).","entity_name":"NPRL2","entity_type":"gene"},{"created":"2020-08-26T19:16:24.318340+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3942","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NPRL2 were changed from  to Epilepsy, familial focal, with variable foci 2, MIM#\t617116; focal seizures; frontal lobe epilepsy; nocturnal frontal lobe epilepsy; temporal lobe epilepsy; focal cortical dysplasia","entity_name":"NPRL2","entity_type":"gene"},{"created":"2020-08-26T19:15:48.202949+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3941","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NPRL2 were set to ","entity_name":"NPRL2","entity_type":"gene"},{"created":"2020-08-26T19:15:23.517160+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3940","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NPRL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NPRL2","entity_type":"gene"},{"created":"2020-08-26T18:32:15.935742+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.125","user_name":"Ain Roesley","item_type":"entity","text":"gene: PEX13 was added\ngene: PEX13 was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PEX13 were set to 21031596; 19449432\nPhenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11A (Zellweger)\t(MIM#614883)\nPenetrance for gene: PEX13 were set to unknown\nReview for gene: PEX13 was set to AMBER\nAdded comment: Accounts for ~1.5% of Zellweger Spectrum Disorder (ZSD) (GeneReviews), for which Polymicrogyria is a feature\r\n\r\nPMID: 19449432;\r\n- 1x ZSD proband with PMG \nSources: Literature","entity_name":"PEX13","entity_type":"gene"},{"created":"2020-08-26T18:31:29.480747+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.125","user_name":"Paul De Fazio","item_type":"entity","text":"gene: PEX14 was added\ngene: PEX14 was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: PEX14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PEX14 were set to 21031596; 18285423; 15146459; 30224891\nPhenotypes for gene: PEX14 were set to Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876\nReview for gene: PEX14 was set to AMBER\ngene: PEX14 was marked as current diagnostic\nAdded comment: Accounts for ~0.5% of Zellweger Spectrum Disorder (GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1448/). At least 3 independent patients have been reported with a homozygous nonsense variant, a rare missense variant, and a whole-exon deletion (PMID: 18285423, 15146459, 30224891) so gene-disease association is established.\r\n\r\nReports of patients with polymicrogyria specifically were not identified, but as Zellweger has the potential to present with polymicrogyria this gene has been rated Amber. \nSources: Literature","entity_name":"PEX14","entity_type":"gene"},{"created":"2020-08-26T18:21:36.627559+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.125","user_name":"Ain Roesley","item_type":"entity","text":"gene: PEX12 was added\ngene: PEX12 was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PEX12 were set to 21031596\nPhenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3A (Zellweger)\t(MIM#614859)\nPenetrance for gene: PEX12 were set to unknown\nReview for gene: PEX12 was set to AMBER\nAdded comment: Accounts for ~7.6% of Zellweger Spectrum Disorder (ZSD) (GeneReviews), for which Polymicrogyria is a feature \nSources: Literature","entity_name":"PEX12","entity_type":"gene"},{"created":"2020-08-26T18:18:53.624143+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX11B as ready","entity_name":"PEX11B","entity_type":"gene"},{"created":"2020-08-26T18:18:53.619375+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Aware of another family tested through our service, but agree gene-disease association limited, and no specific reports of PMG.","entity_name":"PEX11B","entity_type":"gene"},{"created":"2020-08-26T18:18:53.581104+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex11b has been classified as Red List (Low Evidence).","entity_name":"PEX11B","entity_type":"gene"},{"created":"2020-08-26T18:18:44.969740+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.125","user_name":"Paul De Fazio","item_type":"entity","text":"gene: PEX16 was added\ngene: PEX16 was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PEX16 were set to 21031596\nPhenotypes for gene: PEX16 were set to Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876\nReview for gene: PEX16 was set to AMBER\ngene: PEX16 was marked as current diagnostic\nAdded comment: Accounts for ~1.1% of Zellweger Spectrum Disorder (GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1448/). Reports of patients with polymicrogyria specifically were not identified, but as Zellweger has the potential to present with polymicrogyria this gene has been rated Amber. \nSources: Literature","entity_name":"PEX16","entity_type":"gene"},{"created":"2020-08-26T18:18:06.227857+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PEX11B as Red List (low evidence)","entity_name":"PEX11B","entity_type":"gene"},{"created":"2020-08-26T18:18:06.219678+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex11b has been classified as Red List (Low Evidence).","entity_name":"PEX11B","entity_type":"gene"},{"created":"2020-08-26T18:17:14.115264+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX10 as ready","entity_name":"PEX10","entity_type":"gene"},{"created":"2020-08-26T18:17:14.104826+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex10 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX10","entity_type":"gene"},{"created":"2020-08-26T18:17:00.814646+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PEX10 as Amber List (moderate evidence)","entity_name":"PEX10","entity_type":"gene"},{"created":"2020-08-26T18:17:00.804564+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex10 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX10","entity_type":"gene"},{"created":"2020-08-26T18:16:25.231149+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX2 as ready","entity_name":"PEX2","entity_type":"gene"},{"created":"2020-08-26T18:16:25.219309+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex2 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX2","entity_type":"gene"},{"created":"2020-08-26T18:16:21.262404+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PEX2 as Amber List (moderate evidence)","entity_name":"PEX2","entity_type":"gene"},{"created":"2020-08-26T18:16:21.252484+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex2 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX2","entity_type":"gene"},{"created":"2020-08-26T18:15:45.642207+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX26 as ready","entity_name":"PEX26","entity_type":"gene"},{"created":"2020-08-26T18:15:45.634448+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex26 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX26","entity_type":"gene"},{"created":"2020-08-26T18:15:41.519009+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PEX26 as Amber List (moderate evidence)","entity_name":"PEX26","entity_type":"gene"},{"created":"2020-08-26T18:15:41.508624+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex26 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX26","entity_type":"gene"},{"created":"2020-08-26T18:15:12.005897+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.121","user_name":"Paul De Fazio","item_type":"entity","text":"gene: PEX19 was added\ngene: PEX19 was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: PEX19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PEX19 were set to 21031596\nPhenotypes for gene: PEX19 were set to Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886\nReview for gene: PEX19 was set to AMBER\ngene: PEX19 was marked as current diagnostic\nAdded comment: Accounts for ~0.6% of Zellweger Spectrum Disorder (GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1448/). Reports of patients with polymicrogyria specifically were not identified, but as Zellweger has the potential to present with polymicrogyria this gene has been rated Amber. \nSources: Literature","entity_name":"PEX19","entity_type":"gene"},{"created":"2020-08-26T18:15:00.705837+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX3 as ready","entity_name":"PEX3","entity_type":"gene"},{"created":"2020-08-26T18:15:00.695598+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex3 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX3","entity_type":"gene"},{"created":"2020-08-26T18:14:56.996789+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PEX3 as Amber List (moderate evidence)","entity_name":"PEX3","entity_type":"gene"},{"created":"2020-08-26T18:14:56.988409+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex3 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX3","entity_type":"gene"},{"created":"2020-08-26T18:11:35.752850+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.120","user_name":"Ain Roesley","item_type":"entity","text":"gene: PEX11B was added\ngene: PEX11B was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PEX11B were set to 22581968\nPhenotypes for gene: PEX11B were set to ?Peroxisome biogenesis disorder 14B\t(MIM#614920)\nPenetrance for gene: PEX11B were set to unknown\nReview for gene: PEX11B was set to RED\nAdded comment: Accounts for ~0.1% of Zellweger Spectrum Disorder (ZSD) (GeneReviews), for which Polymicrogyria is a feature\r\n\r\nPMID: 22581968;\r\nSinlge patient reported \nSources: Literature","entity_name":"PEX11B","entity_type":"gene"},{"created":"2020-08-26T18:03:33.400251+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.120","user_name":"Ain Roesley","item_type":"entity","text":"gene: PEX10 was added\ngene: PEX10 was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PEX10 were set to 21031596\nPhenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger)\t(MIM#614870)\nPenetrance for gene: PEX10 were set to unknown\nReview for gene: PEX10 was set to AMBER\nAdded comment: Accounts for ~3.4% of Zellweger Spectrum Disorder (ZSD) (GeneReviews), for which Polymicrogyria is a feature \nSources: Literature","entity_name":"PEX10","entity_type":"gene"},{"created":"2020-08-26T18:01:07.032689+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.120","user_name":"Paul De Fazio","item_type":"entity","text":"gene: PEX2 was added\ngene: PEX2 was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PEX2 were set to 21031596\nPhenotypes for gene: PEX2 were set to Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866\nReview for gene: PEX2 was set to AMBER\ngene: PEX2 was marked as current diagnostic\nAdded comment: Accounts for ~3.1% of Zellweger Spectrum Disorder (GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1448/). Reports of patients with polymicrogyria specifically were not identified, but as Zellweger has the potential to present with polymicrogyria this gene has been rated Amber. \nSources: Literature","entity_name":"PEX2","entity_type":"gene"},{"created":"2020-08-26T17:56:47.543866+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.120","user_name":"Paul De Fazio","item_type":"entity","text":"gene: PEX26 was added\ngene: PEX26 was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PEX26 were set to 21031596\nPhenotypes for gene: PEX26 were set to Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872\nReview for gene: PEX26 was set to AMBER\ngene: PEX26 was marked as current diagnostic\nAdded comment: Accounts for ~4.2% of Zellweger Spectrum Disorder (GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1448/). Reports of patients with polymicrogyria specifically were not identified, but as Zellweger has the potential to present with polymicrogyria this gene has been rated Amber. \nSources: Literature","entity_name":"PEX26","entity_type":"gene"},{"created":"2020-08-26T17:49:27.794711+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.120","user_name":"Paul De Fazio","item_type":"entity","text":"edited their review of gene: PEX3: Changed rating: AMBER; Changed phenotypes: Peroxisome biogenesis disorder 10A (Zellweger) 614882","entity_name":"PEX3","entity_type":"gene"},{"created":"2020-08-26T17:49:21.432498+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.120","user_name":"Paul De Fazio","item_type":"entity","text":"gene: PEX3 was added\ngene: PEX3 was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PEX3 were set to 21031596\nPhenotypes for gene: PEX3 were set to Peroxisome biogenesis disorder 10A (Zellweger)\t614882\ngene: PEX3 was marked as current diagnostic\nAdded comment: Accounts for ~0.7% of Zellweger Spectrum Disorder (GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1448/). Reports of patients with polymicrogyria specifically were not identified, but as Zellweger has the potential to present with polymicrogyria this gene has been rated Amber. \nSources: Literature","entity_name":"PEX3","entity_type":"gene"},{"created":"2020-08-26T17:48:31.604173+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX1 as ready","entity_name":"PEX1","entity_type":"gene"},{"created":"2020-08-26T17:48:31.593675+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex1 has been classified as Green List (High Evidence).","entity_name":"PEX1","entity_type":"gene"},{"created":"2020-08-26T17:48:25.989558+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PEX1 as Green List (high evidence)","entity_name":"PEX1","entity_type":"gene"},{"created":"2020-08-26T17:48:25.980113+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex1 has been classified as Green List (High Evidence).","entity_name":"PEX1","entity_type":"gene"},{"created":"2020-08-26T17:47:52.840965+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX5 as ready","entity_name":"PEX5","entity_type":"gene"},{"created":"2020-08-26T17:47:52.832363+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex5 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX5","entity_type":"gene"},{"created":"2020-08-26T17:47:48.620746+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PEX5 as Amber List (moderate evidence)","entity_name":"PEX5","entity_type":"gene"},{"created":"2020-08-26T17:47:48.612869+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex5 has been classified as Amber List (Moderate Evidence).","entity_name":"PEX5","entity_type":"gene"},{"created":"2020-08-26T17:43:47.328473+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.118","user_name":"Ain Roesley","item_type":"entity","text":"gene: PEX1 was added\ngene: PEX1 was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PEX1 were set to 21031596\nPhenotypes for gene: PEX1 were set to Peroxisome biogenesis disorder 1A (Zellweger)\t(MIM#214100)\nPenetrance for gene: PEX1 were set to unknown\nReview for gene: PEX1 was set to GREEN\nAdded comment: Accounts for ~60.5% of Zellweger Spectrum Disorder (ZSD) (GeneReviews), for which Polymicrogyria is a feature \nSources: Literature","entity_name":"PEX1","entity_type":"gene"},{"created":"2020-08-26T17:35:52.994446+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.118","user_name":"Paul De Fazio","item_type":"entity","text":"gene: PEX5 was added\ngene: PEX5 was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PEX5 were set to 21031596\nPhenotypes for gene: PEX5 were set to Peroxisome biogenesis disorder 2A (Zellweger) (MIM#214110)\nReview for gene: PEX5 was set to AMBER\ngene: PEX5 was marked as current diagnostic\nAdded comment: Accounts for ~2% of Zellweger Spectrum Disorder (GeneReviews https://www.ncbi.nlm.nih.gov/books/NBK1448/). Reports of patients with polymicrogyria specifically were not identified, but as Zellweger has the potential to present with polymicrogyria this gene has been rated Amber. \nSources: Literature","entity_name":"PEX5","entity_type":"gene"},{"created":"2020-08-26T17:21:18.276482+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.23","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: STRADA as ready","entity_name":"STRADA","entity_type":"gene"},{"created":"2020-08-26T17:21:18.267869+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.23","user_name":"Seb Lunke","item_type":"entity","text":"Gene: strada has been classified as Amber List (Moderate Evidence).","entity_name":"STRADA","entity_type":"gene"},{"created":"2020-08-26T17:21:11.569942+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.23","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: STRADA were set to ","entity_name":"STRADA","entity_type":"gene"},{"created":"2020-08-26T17:20:55.364374+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.22","user_name":"Seb Lunke","item_type":"entity","text":"Mode of inheritance for gene: STRADA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"STRADA","entity_type":"gene"},{"created":"2020-08-26T17:20:28.220037+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.21","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: STRADA as Amber List (moderate evidence)","entity_name":"STRADA","entity_type":"gene"},{"created":"2020-08-26T17:20:28.216259+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.21","user_name":"Seb Lunke","item_type":"entity","text":"Added comment: Comment on list classification: megalencephaly link well established, but no conclusive evidence of hemi-megalencephaly","entity_name":"STRADA","entity_type":"gene"},{"created":"2020-08-26T17:20:28.188630+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.21","user_name":"Seb Lunke","item_type":"entity","text":"Gene: strada has been classified as Amber List (Moderate Evidence).","entity_name":"STRADA","entity_type":"gene"},{"created":"2020-08-26T17:19:53.547021+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SHH as ready","entity_name":"SHH","entity_type":"gene"},{"created":"2020-08-26T17:19:53.539012+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: shh has been classified as Red List (Low Evidence).","entity_name":"SHH","entity_type":"gene"},{"created":"2020-08-26T17:19:50.039134+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: SHH.","entity_name":"SHH","entity_type":"gene"},{"created":"2020-08-26T17:19:13.194180+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NPRL3 as ready","entity_name":"NPRL3","entity_type":"gene"},{"created":"2020-08-26T17:19:13.184499+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nprl3 has been classified as Green List (High Evidence).","entity_name":"NPRL3","entity_type":"gene"},{"created":"2020-08-26T17:18:59.366777+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NPRL3 were changed from  to Epilepsy, familial focal, with variable foci 3 (MIM#617118)","entity_name":"NPRL3","entity_type":"gene"},{"created":"2020-08-26T17:18:35.432493+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NPRL3 were set to ","entity_name":"NPRL3","entity_type":"gene"},{"created":"2020-08-26T17:18:08.199692+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SHH were changed from  to Schizencephaly (MIM#269160)","entity_name":"SHH","entity_type":"gene"},{"created":"2020-08-26T17:17:54.031847+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NPRL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NPRL3","entity_type":"gene"},{"created":"2020-08-26T17:17:43.448253+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.17","user_name":"Paul De Fazio","item_type":"entity","text":"edited their review of gene: STRADA: Changed rating: GREEN","entity_name":"STRADA","entity_type":"gene"},{"created":"2020-08-26T17:17:36.338105+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.17","user_name":"Paul De Fazio","item_type":"entity","text":"changed review comment from: Associated with PMSE (Polyhydramnios, megalencephaly, and symptomatic epilepsy). Link to TSC seems tenuous and is limited to the authors of PMID: 17522105 citing similarities to TSC in histological findings in an individual with biallelic STRADA deletions, and the fact that this gene is implicated in the mTORC pathway.\r\n\r\nThis gene is an upstream inhibitor of mTORC1. Treatment with rapamycin reduces seizures in a mouse model (PMID: 23616120).; to: Associated with PMSE (Polyhydramnios, megalencephaly, and symptomatic epilepsy). Link to TSC seems tenuous and is limited to the authors of PMID: 17522105 citing similarities to TSC in histological findings in an individual with biallelic STRADA deletions, and the fact that this gene is implicated in the mTORC pathway. However megalencephaly is a common characteristic in almost all patients (summarised in PMID: 27170158). Reported patients include 7 distantly-related Mennonite children with the same 7kb deletion, plus two other separate unrelated individuals.\r\n\r\nThis gene is an upstream inhibitor of mTORC1. Treatment with rapamycin reduces seizures in a mouse model (PMID: 23616120).","entity_name":"STRADA","entity_type":"gene"},{"created":"2020-08-26T17:17:29.150735+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.117","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: PEX6 as ready","entity_name":"PEX6","entity_type":"gene"},{"created":"2020-08-26T17:17:29.143068+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.117","user_name":"Seb Lunke","item_type":"entity","text":"Gene: pex6 has been classified as Green List (High Evidence).","entity_name":"PEX6","entity_type":"gene"},{"created":"2020-08-26T17:17:15.987180+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.117","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: PEX6 as Green List (high evidence)","entity_name":"PEX6","entity_type":"gene"},{"created":"2020-08-26T17:17:15.978944+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.117","user_name":"Seb Lunke","item_type":"entity","text":"Gene: pex6 has been classified as Green List (High Evidence).","entity_name":"PEX6","entity_type":"gene"},{"created":"2020-08-26T17:16:22.576310+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SHH were set to ","entity_name":"SHH","entity_type":"gene"},{"created":"2020-08-26T17:15:50.921656+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SHH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SHH","entity_type":"gene"},{"created":"2020-08-26T17:15:34.316832+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.114","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SIX3 as ready","entity_name":"SIX3","entity_type":"gene"},{"created":"2020-08-26T17:15:34.308705+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.114","user_name":"Seb Lunke","item_type":"entity","text":"Gene: six3 has been classified as Red List (Low Evidence).","entity_name":"SIX3","entity_type":"gene"},{"created":"2020-08-26T17:15:05.729771+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.114","user_name":"Seb Lunke","item_type":"entity","text":"Mode of inheritance for gene: SIX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"SIX3","entity_type":"gene"},{"created":"2020-08-26T17:14:17.725340+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.113","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: SIX3 were set to ","entity_name":"SIX3","entity_type":"gene"},{"created":"2020-08-26T17:13:59.875355+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SHH as Red List (low evidence)","entity_name":"SHH","entity_type":"gene"},{"created":"2020-08-26T17:13:59.861082+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: shh has been classified as Red List (Low Evidence).","entity_name":"SHH","entity_type":"gene"},{"created":"2020-08-26T17:13:36.216294+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SHH as Red List (low evidence)","entity_name":"SHH","entity_type":"gene"},{"created":"2020-08-26T17:13:36.205198+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: shh has been classified as Red List (Low Evidence).","entity_name":"SHH","entity_type":"gene"},{"created":"2020-08-26T17:13:17.955982+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.112","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SIX3 as Red List (low evidence)","entity_name":"SIX3","entity_type":"gene"},{"created":"2020-08-26T17:13:17.952183+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.112","user_name":"Seb Lunke","item_type":"entity","text":"Added comment: Comment on list classification: Missense variants too common in gnomAD. Left with one novel nonsense, insufficient evidence for association with schizencephaly at this stage.","entity_name":"SIX3","entity_type":"gene"},{"created":"2020-08-26T17:13:17.918831+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.112","user_name":"Seb Lunke","item_type":"entity","text":"Gene: six3 has been classified as Red List (Low Evidence).","entity_name":"SIX3","entity_type":"gene"},{"created":"2020-08-26T17:12:36.479073+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3939","user_name":"Dean Phelan","item_type":"entity","text":"reviewed gene: NPRL2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26505888, 27173016, 28199897, 31594065; Phenotypes: focal seizures, frontal lobe epilepsy, nocturnal frontal lobe epilepsy, temporal lobe epilepsy, focal cortical dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NPRL2","entity_type":"gene"}]}