{"count":221416,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=509","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=507","results":[{"created":"2023-12-07T16:05:14.544561+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLA2G16 were changed from Lipodystrophy (MONDO:0006573) to Lipodystrophy (MONDO:0006573), PLA2G16-related","entity_name":"PLA2G16","entity_type":"gene"},{"created":"2023-12-07T16:04:28.885118+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PLA2G16 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLA2G16","entity_type":"gene"},{"created":"2023-12-07T16:04:01.827735+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLA2G16 as Green List (high evidence)","entity_name":"PLA2G16","entity_type":"gene"},{"created":"2023-12-07T16:04:01.807830+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pla2g16 has been classified as Green List (High Evidence).","entity_name":"PLA2G16","entity_type":"gene"},{"created":"2023-12-07T16:00:56.206808+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.305","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PKP2 as ready","entity_name":"PKP2","entity_type":"gene"},{"created":"2023-12-07T16:00:56.195401+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.305","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pkp2 has been classified as Green List (High Evidence).","entity_name":"PKP2","entity_type":"gene"},{"created":"2023-12-07T16:00:51.928903+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.305","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PKP2 as Green List (high evidence)","entity_name":"PKP2","entity_type":"gene"},{"created":"2023-12-07T16:00:51.919200+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.305","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pkp2 has been classified as Green List (High Evidence).","entity_name":"PKP2","entity_type":"gene"},{"created":"2023-12-07T16:00:16.968744+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.304","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PKP2 was added\ngene: PKP2 was added to Hydrops fetalis. Sources: Literature\nMode of inheritance for gene: PKP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PKP2 were set to 30562116; 35059364; 38050058\nPhenotypes for gene: PKP2 were set to Dilated cardiomyopathy, MONDO:0005021, PKP2-related\nReview for gene: PKP2 was set to GREEN\nAdded comment: Reports of severe perinatal onset DCM and of HLH, some presenting with hydrops. \nSources: Literature","entity_name":"PKP2","entity_type":"gene"},{"created":"2023-12-07T15:57:57.156612+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.169","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PKP2 as ready","entity_name":"PKP2","entity_type":"gene"},{"created":"2023-12-07T15:57:57.145565+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.169","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pkp2 has been classified as Green List (High Evidence).","entity_name":"PKP2","entity_type":"gene"},{"created":"2023-12-07T15:57:45.178514+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.169","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PKP2 were changed from dilated cardiomyopathy; hypoplastic left heart syndrome; hydrops fetalis; ventricular septal defect; left ventricular non-compaction to Dilated cardiomyopathy, MONDO:0005021, PKP2-related; dilated cardiomyopathy; hypoplastic left heart syndrome; hydrops fetalis; ventricular septal defect; left ventricular non-compaction","entity_name":"PKP2","entity_type":"gene"},{"created":"2023-12-07T15:57:29.813936+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.168","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dilated cardiomyopathy, MONDO:0005021, PKP2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PKP2","entity_type":"gene"},{"created":"2023-12-07T15:57:09.346310+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PKP2 were changed from Arrhythmogenic right ventricular dysplasia 9; Arrhythmogenic right ventricular cardiomyopathy to Dilated cardiomyopathy, MONDO:0005021, PKP2-related; Arrhythmogenic right ventricular dysplasia 9; Arrhythmogenic right ventricular cardiomyopathy","entity_name":"PKP2","entity_type":"gene"},{"created":"2023-12-07T15:56:48.161438+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dilated cardiomyopathy, MONDO:0005021, PKP2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PKP2","entity_type":"gene"},{"created":"2023-12-07T15:54:10.142057+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.165","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: OTOA.","entity_name":"OTOA","entity_type":"gene"},{"created":"2023-12-07T15:53:46.666105+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1417","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: OTOA.","entity_name":"OTOA","entity_type":"gene"},{"created":"2023-12-07T15:53:05.992360+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1417","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: STRC.","entity_name":"STRC","entity_type":"gene"},{"created":"2023-12-07T15:01:52.508184+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.299","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PKP2 were changed from Arrhythmogenic right ventricular dysplasia 9, MIM# 609040 to Arrhythmogenic right ventricular dysplasia 9, MIM# 609040; Dilated cardiomyopathy, MONDO:0005021, PKP2-related","entity_name":"PKP2","entity_type":"gene"},{"created":"2023-12-07T15:01:22.698262+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.298","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PKP2 were set to 33831308","entity_name":"PKP2","entity_type":"gene"},{"created":"2023-12-07T14:56:42.638810+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.297","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PKP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PKP2","entity_type":"gene"},{"created":"2023-12-07T14:55:56.731473+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.296","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PKP2: Added comment: PMID: 30562116: reported 2 cases with hypoplastic left heart syndrome (HLHS) and features of noncompaction resulting from a homozygous truncating variant in the PKP2 gene (c.1211dup (p.Val406fsTer4). In the second pregnancy, additional features of fetal hydrops, HLHS, severe RVH, NC, multiple VSD were observed.\r\n\r\nPMID: 35059364: reported a homozygous PKP2 variant, c.1511-1G>C, in an infant with neonatal onset of congestive heart failure owing to severe Left ventricular non-compaction (LVNC) and multiple muscular ventricular septal defect (VSD).\r\n\r\nPMID: 38050058 reported biallelic loss of function variants in three cases with lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET). In case 1, additional symptoms reported were micrognathia, retrognathia and hypertelorism. Case 2 had no extracardiac anomalies. In case 3, additional symptoms of hepatomegaly, supraventricular tachycardia consistent to Wolff Parkinson-White syndrome.; Changed publications: 30562116, 35059364, 38050058","entity_name":"PKP2","entity_type":"gene"},{"created":"2023-12-07T14:55:16.805402+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.296","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PKP2: Changed phenotypes: Arrhythmogenic right ventricular dysplasia 9, MIM# 609040, Dilated cardiomyopathy, MONDO:0005021, PKP2-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PKP2","entity_type":"gene"},{"created":"2023-12-07T14:53:18.362639+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.30","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PKP2 were changed from Arrhythmogenic right ventricular dysplasia 9 (MIM#609040); Dilated cardiomyopathy; hypoplastic left heart syndrome; hydrops fetalis; ventricular septal defect; left ventricular non-compaction to Arrhythmogenic right ventricular dysplasia 9 (MIM#609040); Dilated cardiomyopathy, MONDO:0005021, PKP2-related; hypoplastic left heart syndrome; hydrops fetalis; ventricular septal defect; left ventricular non-compaction","entity_name":"PKP2","entity_type":"gene"},{"created":"2023-12-07T14:51:19.792942+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2007","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CRELD1 were set to ","entity_name":"CRELD1","entity_type":"gene"},{"created":"2023-12-07T14:50:13.818100+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1417","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC19A1 were changed from Megaloblastic anemia, folate-responsive, MIM# 601775 to Megaloblastic anemia, folate-responsive, MIM# 601775; Combined immunodeficiency, SLC19A1-related MONDO:0015131","entity_name":"SLC19A1","entity_type":"gene"},{"created":"2023-12-07T14:49:35.948956+11:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC19A1 were set to 32276275","entity_name":"SLC19A1","entity_type":"gene"},{"created":"2023-12-07T14:49:08.775231+11:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.22","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC19A1: Added comment: PMID: 36745868 report two distantly related patients (last common ancestor 5 generations prior) with the same homozygous missense variant, G348R. The variant is absent from gnomAD, although the residue is not conserved in mammals. Both patients experienced severe recurrent infection, neurologic and hematologic disorders, and gastroenteropathy. Functional studies on patient lymphocytes were consistent with reduced transporter activity.\r\n\r\nPMID: 36517554 report two cousins with immunodeficiency with the same G348R variant as above. Functional studies on patient cells supported loss of transporter function. The patient’s symptoms ameliorated, and hematological and immunological tests normalized in the 2nd month of folinic acid supplementation.\r\n\r\nPhenotypes not entirely consistent, homozygous variants.; Changed rating: AMBER; Changed publications: 32276275, 36745868, 36517554; Changed phenotypes: Megaloblastic anemia, folate-responsive, MIM# 601775","entity_name":"SLC19A1","entity_type":"gene"},{"created":"2023-12-07T14:46:58.939914+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1416","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAB1A as ready","entity_name":"RAB1A","entity_type":"gene"},{"created":"2023-12-07T14:46:58.925411+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1416","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rab1a has been classified as Amber List (Moderate Evidence).","entity_name":"RAB1A","entity_type":"gene"},{"created":"2023-12-07T14:46:21.483944+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1416","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RAB1A as Amber List (moderate evidence)","entity_name":"RAB1A","entity_type":"gene"},{"created":"2023-12-07T14:46:21.473486+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1416","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rab1a has been classified as Amber List (Moderate Evidence).","entity_name":"RAB1A","entity_type":"gene"},{"created":"2023-12-07T14:46:02.895663+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1415","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RAB1A was added\ngene: RAB1A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RAB1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAB1A were set to 37924809\nPhenotypes for gene: RAB1A were set to neurodevelopmental disorder MONDO:0700092, RAB1A-related\nReview for gene: RAB1A was set to AMBER\nAdded comment: Four families and 5 individuals, 2/5 have speech delay and 4/5 have motor delay. Anxiety in 3/5 and autism in 2/5. Microcephaly in only one individual, spastic paraplegia observed in 2 individuals from one family. In 2 families variants were inherited from an affected parent. \nSources: Literature","entity_name":"RAB1A","entity_type":"gene"},{"created":"2023-12-07T14:45:37.826468+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5637","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB1A were changed from neurodevelopmental disorder MONDO:0700092, CASP2-related to neurodevelopmental disorder MONDO:0700092, RAB1A-related","entity_name":"RAB1A","entity_type":"gene"},{"created":"2023-12-07T14:44:12.382801+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5636","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RAB1A as Amber List (moderate evidence)","entity_name":"RAB1A","entity_type":"gene"},{"created":"2023-12-07T14:44:12.372216+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5636","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rab1a has been classified as Amber List (Moderate Evidence).","entity_name":"RAB1A","entity_type":"gene"},{"created":"2023-12-07T14:40:51.312451+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1414","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CRELD1 were set to 22740159","entity_name":"CRELD1","entity_type":"gene"},{"created":"2023-12-07T14:39:44.654325+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2006","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FUK as Green List (high evidence)","entity_name":"FUK","entity_type":"gene"},{"created":"2023-12-07T14:39:44.643457+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2006","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fuk has been classified as Green List (High Evidence).","entity_name":"FUK","entity_type":"gene"},{"created":"2023-12-07T14:39:03.351341+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2005","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FUK: Added comment: PMID: 35718084: Reporting on 3 unrelated patients from literature and 1 new patient. All reported to have mild-severe intellectual disability, developmental delay and brain abnormalities, and 3/4 present with seizures. Phenotypes are childhood onset. Homozygous and compound heterozygous variants have been reported. \r\n\r\nPMID: 36426412: Reporting on new 1 patient (homozygous missense). Not affected by intellectual disability, developmental delay, or brain abnormalities. Presents with seizures. Loss of function suggested due to depletion of the FUK gene expression.; Changed rating: GREEN; Changed publications: 30503518, 35718084, 36426412","entity_name":"FUK","entity_type":"gene"},{"created":"2023-12-07T14:38:10.062006+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1413","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FUK were set to 30503518","entity_name":"FUK","entity_type":"gene"},{"created":"2023-12-07T14:37:45.891672+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1412","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FUK as Green List (high evidence)","entity_name":"FUK","entity_type":"gene"},{"created":"2023-12-07T14:37:45.882625+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1412","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fuk has been classified as Green List (High Evidence).","entity_name":"FUK","entity_type":"gene"},{"created":"2023-12-07T14:37:26.500995+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1411","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FUK: Added comment: PMID: 35718084: Reporting on 3 unrelated patients from literature and 1 new patient. All reported to have mild-severe intellectual disability, developmental delay and brain abnormalities, and 3/4 present with seizures. Phenotypes are childhood onset. Homozygous and compound heterozygous variants have been reported. \r\n\r\nPMID: 36426412: Reporting on new 1 patient (homozygous missense). Not affected by intellectual disability, developmental delay, or brain abnormalities. Presents with seizures. Loss of function suggested due to depletion of the FUK gene expression.; Changed rating: GREEN; Changed publications: 30503518, 35718084, 36426412","entity_name":"FUK","entity_type":"gene"},{"created":"2023-12-07T14:36:40.402634+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.44","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FUK were set to 30503518","entity_name":"FUK","entity_type":"gene"},{"created":"2023-12-07T14:35:59.568490+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.43","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FUK as Green List (high evidence)","entity_name":"FUK","entity_type":"gene"},{"created":"2023-12-07T14:35:59.557602+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.43","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fuk has been classified as Green List (High Evidence).","entity_name":"FUK","entity_type":"gene"},{"created":"2023-12-07T14:35:21.056979+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.42","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FUK: Added comment: PMID: 35718084: Reporting on 3 unrelated patients from literature and 1 new patient. All reported to have mild-severe intellectual disability, developmental delay and brain abnormalities, and 3/4 present with seizures. Phenotypes are childhood onset. Homozygous and compound heterozygous variants have been reported. \r\n\r\nPMID: 36426412: Reporting on new 1 patient (homozygous missense). Not affected by intellectual disability, developmental delay, or brain abnormalities. Presents with seizures. Loss of function suggested due to depletion of the FUK gene expression.; Changed rating: GREEN; Changed publications: 30503518, 35718084, 36426412; Changed phenotypes: Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324","entity_name":"FUK","entity_type":"gene"},{"created":"2023-12-07T14:34:25.359121+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5635","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FUK as ready","entity_name":"FUK","entity_type":"gene"},{"created":"2023-12-07T14:34:25.351756+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5635","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Promoted to Green with the additional cases.","entity_name":"FUK","entity_type":"gene"},{"created":"2023-12-07T14:34:25.320565+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5635","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fuk has been classified as Green List (High Evidence).","entity_name":"FUK","entity_type":"gene"},{"created":"2023-12-07T14:00:26.423950+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5635","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FUK were set to 30503518","entity_name":"FUK","entity_type":"gene"},{"created":"2023-12-07T13:59:46.691613+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5634","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FUK as Green List (high evidence)","entity_name":"FUK","entity_type":"gene"},{"created":"2023-12-07T13:59:46.682697+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5634","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fuk has been classified as Green List (High Evidence).","entity_name":"FUK","entity_type":"gene"},{"created":"2023-12-07T13:57:42.110097+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5633","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SV2A as ready","entity_name":"SV2A","entity_type":"gene"},{"created":"2023-12-07T13:57:42.099217+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5633","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sv2a has been classified as Amber List (Moderate Evidence).","entity_name":"SV2A","entity_type":"gene"},{"created":"2023-12-07T13:57:36.678260+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5633","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SV2A were changed from Epilepsy, MONDO:0005027; microcephaly MONDO:0001149; intellectual disability MONDO:0001071 to Neurodevelopmental disorder, MONDO:0700092, SV2A-related","entity_name":"SV2A","entity_type":"gene"},{"created":"2023-12-07T13:56:54.579732+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5632","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SV2A as Amber List (moderate evidence)","entity_name":"SV2A","entity_type":"gene"},{"created":"2023-12-07T13:56:54.563720+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5632","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sv2a has been classified as Amber List (Moderate Evidence).","entity_name":"SV2A","entity_type":"gene"},{"created":"2023-12-07T13:56:15.255582+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2005","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SV2A as ready","entity_name":"SV2A","entity_type":"gene"},{"created":"2023-12-07T13:56:15.244326+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2005","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sv2a has been classified as Amber List (Moderate Evidence).","entity_name":"SV2A","entity_type":"gene"},{"created":"2023-12-07T13:56:11.740747+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2005","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SV2A were changed from Epilepsy, MONDO:0005027 to Neurodevelopmental disorder, MONDO:0700092, SV2A-related","entity_name":"SV2A","entity_type":"gene"},{"created":"2023-12-07T13:55:23.182802+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2004","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SV2A as Amber List (moderate evidence)","entity_name":"SV2A","entity_type":"gene"},{"created":"2023-12-07T13:55:23.172881+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2004","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sv2a has been classified as Amber List (Moderate Evidence).","entity_name":"SV2A","entity_type":"gene"},{"created":"2023-12-07T13:54:27.640641+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1411","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SV2A as ready","entity_name":"SV2A","entity_type":"gene"},{"created":"2023-12-07T13:54:27.628978+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1411","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sv2a has been classified as Amber List (Moderate Evidence).","entity_name":"SV2A","entity_type":"gene"},{"created":"2023-12-07T13:48:12.160807+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1411","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SV2A were changed from Epilepsy, MONDO:0005027 to Neurodevelopmental disorder, MONDO:0700092, SV2A-related","entity_name":"SV2A","entity_type":"gene"},{"created":"2023-12-07T13:47:48.703288+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1410","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SV2A as Amber List (moderate evidence)","entity_name":"SV2A","entity_type":"gene"},{"created":"2023-12-07T13:47:48.691895+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1410","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sv2a has been classified as Amber List (Moderate Evidence).","entity_name":"SV2A","entity_type":"gene"},{"created":"2023-12-07T13:47:28.783705+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1409","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Insufficient evidence for either the mono- or bi-allelic association: two convincing families with each.; to: Insufficient evidence for either the mono- or bi-allelic association: two convincing families with each. ","entity_name":"SV2A","entity_type":"gene"},{"created":"2023-12-07T13:45:30.971054+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1409","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SV2A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, SV2A-related; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"SV2A","entity_type":"gene"},{"created":"2023-12-07T13:44:28.496748+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.242","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SV2A as ready","entity_name":"SV2A","entity_type":"gene"},{"created":"2023-12-07T13:44:28.470906+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.242","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sv2a has been classified as Amber List (Moderate Evidence).","entity_name":"SV2A","entity_type":"gene"},{"created":"2023-12-07T13:44:25.082486+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.242","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SV2A were changed from Epilepsy, MONDO:0005027; microcephaly MONDO:0001149 to Neurodevelopmental disorder, MONDO:0700092, SV2A-related","entity_name":"SV2A","entity_type":"gene"},{"created":"2023-12-07T13:42:53.794120+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.241","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SV2A was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SV2A","entity_type":"gene"},{"created":"2023-12-07T13:40:49.694144+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.240","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SV2A as Amber List (moderate evidence)","entity_name":"SV2A","entity_type":"gene"},{"created":"2023-12-07T13:40:49.680378+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.240","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sv2a has been classified as Amber List (Moderate Evidence).","entity_name":"SV2A","entity_type":"gene"},{"created":"2023-12-07T13:39:58.489805+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1409","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP192 as ready","entity_name":"CEP192","entity_type":"gene"},{"created":"2023-12-07T13:39:58.475349+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1409","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep192 has been classified as Red List (Low Evidence).","entity_name":"CEP192","entity_type":"gene"},{"created":"2023-12-07T13:39:14.758053+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.29","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: PKP2 were set to 15489853; 16567567; 30562116; 35059364; 38050058","entity_name":"PKP2","entity_type":"gene"},{"created":"2023-12-07T13:38:52.201004+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.29","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: PKP2 were set to 15489853; 16567567; 38050058","entity_name":"PKP2","entity_type":"gene"},{"created":"2023-12-07T13:37:26.774515+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.28","user_name":"Seb Lunke","item_type":"entity","text":"Mode of inheritance for gene: PKP2 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PKP2","entity_type":"gene"},{"created":"2023-12-07T13:32:44.217693+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1409","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CEP192 as Red List (low evidence)","entity_name":"CEP192","entity_type":"gene"},{"created":"2023-12-07T13:32:44.200061+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1409","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep192 has been classified as Red List (Low Evidence).","entity_name":"CEP192","entity_type":"gene"},{"created":"2023-12-07T13:32:27.709974+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.168","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: PKP2 as ready","entity_name":"PKP2","entity_type":"gene"},{"created":"2023-12-07T13:32:27.699992+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.168","user_name":"Seb Lunke","item_type":"entity","text":"Gene: pkp2 has been classified as Green List (High Evidence).","entity_name":"PKP2","entity_type":"gene"},{"created":"2023-12-07T13:32:27.157476+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.27","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: PKP2 as Green List (high evidence)","entity_name":"PKP2","entity_type":"gene"},{"created":"2023-12-07T13:32:27.134496+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.27","user_name":"Seb Lunke","item_type":"entity","text":"Gene: pkp2 has been classified as Green List (High Evidence).","entity_name":"PKP2","entity_type":"gene"},{"created":"2023-12-07T13:31:28.357903+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.239","user_name":"Karina Sandoval","item_type":"entity","text":"edited their review of gene: SV2A: Added comment: Updated - Only Biallelic causes microcephaly\r\nMonoallelic variants cause epilepsy. Biallelic variant in this 5yo with p.Arg289Ter and another 5yo from another paper with homozygous p.Arg383Gln, reported to cause severe phenotype of drug-resistant epileptic encephalopathy with microcephaly, DD, movement disorder and growth retardation.\r\nThis paper references 5 other families with both AR & AD\r\nFamily #1 – p.Arg383Gln, AR, 2 affected in family, parents healthy carriers\r\nFamily #2 – p.Arg570Cys, AD, 2 affected, inherited from affected mother (in gnomAD v2 1 het, absent from gnomAD v3)\r\nFamily #3 – p.Gly660Arg, AD, de novo\r\nFamily #4 – p.Gly660Arg, AD, segregated in 11 family members\r\nFamily #5 (this study) – p.Arg289Ter, AR, parents and 2 sibs asymptomatic carriers; Changed phenotypes: Epilepsy, MONDO:0005027, microcephaly MONDO:0001149, intellectual disability MONDO:0001071; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SV2A","entity_type":"gene"},{"created":"2023-12-07T13:31:17.348798+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.175","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: PKP2 as ready","entity_name":"PKP2","entity_type":"gene"},{"created":"2023-12-07T13:31:17.338015+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.175","user_name":"Seb Lunke","item_type":"entity","text":"Gene: pkp2 has been classified as Green List (High Evidence).","entity_name":"PKP2","entity_type":"gene"},{"created":"2023-12-07T13:28:05.853102+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1408","user_name":"Chern Lim","item_type":"entity","text":"gene: CEP192 was added\ngene: CEP192 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CEP192 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: CEP192 were set to 37981762\nPhenotypes for gene: CEP192 were set to microcephaly, short stature, limb-extremity dysplasia, and reduced testicular size\nReview for gene: CEP192 was set to RED\ngene: CEP192 was marked as current diagnostic\nAdded comment: PMID: 37981762:\r\n-\tIn one family, chet missense p.His638Tyr and p.Asn1917Ser segregated with microcephaly, short stature, limb-extremity dysplasia, and reduced testicular size in two affected siblings. Both sibs also fulfilled dx for mosaic variegated aneuploidy (MVA) syndrome and have tetraploidy.\r\n-\tA lower but substantial proportion of MVA/tetraploidy cells was observed in II-1, II-2, and II-4 (who are het for one of the variants).\r\n\r\n-\tIn the same family, each variants in heterozygous state segregated with infertility and/or reduced testicular size in the proband’s father and maternal uncle.\r\n-\tVariant screening of CEP192 coding regions performed for 1264 unrelated males with idiopathic infertility.\r\n       -\tAsn1917Ser was also detected in three additional unrelated infertile males with reduced testicular volumes. \r\n       -       Two other missense and two synonymous variants were repeatedly detected in infertile males.\r\n\r\n-\tqPCR showed CEP192 expression was decreased in individuals with c.1912C>T His638Tyr, mini-gene assay showed that c.1912C>T His638Tyr led to the skipping of exon 14, predicted to result in NMD.\r\n-\tEpithelial cells cultured in vitro from patients with biallelic variants showed the number of cells arrested during the prophase increased because of the failure of spindle formation.\r\n\r\n-\tEmbyronic mouse lethality in Cep192-/- (hom for His638Tyr), Cep192M/M (hom for Asn1917Ser) and Cep192-/M (chet).\r\n-\tEmbryos of Cep192M/M mice had significant increase of MVA and tetraploidy cells.\r\n-\tNumber of apoptotic cells increased in Cep192M/M embryos compared with that of Cep192+/+, similar result in Cep192-/- embryos.\r\n-\tMale mice with Cep192 heterozygous variants replicated infertility\r\n\r\nConclusions: \r\n- Association of this gene with autosomal recessive disease has not been established.\r\n- Association of monoallelic variants in this gene with infertility is not well established:\r\n  - Two variants with some supportive evidence from mouse model. \nSources: Literature","entity_name":"CEP192","entity_type":"gene"},{"created":"2023-12-07T13:27:43.220029+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.239","user_name":"Karina Sandoval","item_type":"entity","text":"changed review comment from: Monoallelic variants cause epilepsy. Biallelic variant in this 5yo with p.Arg289Ter and another 5yo from another paper with homozygous p.Arg383Gln, reported to cause severe phenotype of drug-resistant epileptic encephalopathy with microcephaly, DD, movement disorder and growth retardation. \r\nThis paper references 5 other families with both AR & AD\r\nFamily #1 – p.Arg383Gln, AR, 2 affected in family, parents healthy carriers\r\nFamily #2 – p.Arg570Cys, AD, 2 affected, inherited from affected mother (in gnomAD v2 1 het, absent from gnomAD v3)\r\nFamily #3 – p.Gly660Arg, AD, de novo\r\nFamily #4 – p.Gly660Arg, AD, segregated in 11 family members\r\nFamily #5 (this study) – p.Arg289Ter, AR, parents and 2 sibs asymptomatic carriers \nSources: Literature; to: Monoallelic variants cause epilepsy. Biallelic variant in this 5yo with p.Arg289Ter and another 5yo from another paper with homozygous p.Arg383Gln, reported to cause severe phenotype of drug-resistant epileptic encephalopathy with microcephaly, DD, movement disorder and growth retardation. \r\nThis paper references 5 other families with both AR & AD\r\nFamily #1 – p.Arg383Gln, AR, 2 affected in family, parents healthy carriers\r\nFamily #2 – p.Arg570Cys, AD, 2 affected, inherited from affected mother (in gnomAD v2 1 het, absent from gnomAD v3)\r\nFamily #3 – p.Gly660Arg, AD, de novo\r\nFamily #4 – p.Gly660Arg, AD, segregated in 11 family members\r\nFamily #5 (this study) – p.Arg289Ter, AR, parents and 2 sibs asymptomatic carriers \r\nSources: Literature","entity_name":"SV2A","entity_type":"gene"},{"created":"2023-12-07T13:27:21.416437+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5631","user_name":"Karina Sandoval","item_type":"entity","text":"gene: SV2A was added\ngene: SV2A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SV2A was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: SV2A were set to PMID: 37985816\nPhenotypes for gene: SV2A were set to Epilepsy, MONDO:0005027; microcephaly MONDO:0001149; intellectual disability MONDO:0001071\nReview for gene: SV2A was set to AMBER\nAdded comment: Monoallelic variants cause epilepsy. Biallelic variant in this 5yo with p.Arg289Ter and another 5yo from another paper with homozygous p.Arg383Gln, reported to cause severe phenotype of drug-resistant epileptic encephalopathy with microcephaly, DD, movement disorder and growth retardation.\r\nThis paper references 5 other families with both AR & AD\r\nFamily #1 – p.Arg383Gln, AR, 2 affected in family, parents healthy carriers\r\nFamily #2 – p.Arg570Cys, AD, 2 affected, inherited from affected mother (in gnomAD v2 1 het, absent from gnomAD v3)\r\nFamily #3 – p.Gly660Arg, AD, de novo\r\nFamily #4 – p.Gly660Arg, AD, segregated in 11 family members\r\nFamily #5 (this study) – p.Arg289Ter, AR, parents and 2 sibs asymptomatic carriers \nSources: Literature","entity_name":"SV2A","entity_type":"gene"},{"created":"2023-12-07T13:25:16.500963+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1408","user_name":"Karina Sandoval","item_type":"entity","text":"changed review comment from: Monoallelic variants cause epilepsy. Biallelic variant in this 5yo (Hom p.Arg383Gln) reported to cause severe phenotype of drug-resistant epileptic encephalopathy with microcephaly, DD, movement disorder and growth retardation. Consanguineous.\r\nThis paper references 5 other families with both AR & AD \r\nFamily #1 – p.Arg383Gln, AR, 2 affected in family, parents healthy carriers\r\nFamily #2 – p.Arg570Cys, AD, 2 affected, inherited from affected mother (in gnomAD v2 1 het, absent from gnomAD v3)\r\nFamily #3 – p.Gly660Arg, AD, de novo\r\nFamily #4 – p.Gly660Arg, AD, segregated in 11 family members \r\nFamily #5 (this study) – p.Arg289Ter, AR, parents and 2 sibs asymptomatic carriers \r\nSources: Literature; to: Monoallelic variants cause epilepsy. Biallelic variant in this 5yo with p.Arg289Ter and another 5yo from another paper with homozygous p.Arg383Gln, reported to cause severe phenotype of drug-resistant epileptic encephalopathy with microcephaly, DD, movement disorder and growth retardation.\r\nThis paper references 5 other families with both AR & AD \r\nFamily #1 – p.Arg383Gln, AR, 2 affected in family, parents healthy carriers\r\nFamily #2 – p.Arg570Cys, AD, 2 affected, inherited from affected mother (in gnomAD v2 1 het, absent from gnomAD v3)\r\nFamily #3 – p.Gly660Arg, AD, de novo\r\nFamily #4 – p.Gly660Arg, AD, segregated in 11 family members \r\nFamily #5 (this study) – p.Arg289Ter, AR, parents and 2 sibs asymptomatic carriers \r\nSources: Literature","entity_name":"SV2A","entity_type":"gene"},{"created":"2023-12-07T13:25:08.535257+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.2003","user_name":"Karina Sandoval","item_type":"entity","text":"changed review comment from: Monoallelic variants cause epilepsy. Biallelic variant in this 5yo (Hom p.Arg383Gln) reported to cause severe phenotype of drug-resistant epileptic encephalopathy with microcephaly, DD, movement disorder and growth retardation. Consanguineous.\r\nThis paper references 5 other families with both AR & AD\r\nFamily #1 – p.Arg383Gln, AR, 2 affected in family, parents healthy carriers\r\nFamily #2 – p.Arg570Cys, AD, 2 affected, inherited from affected mother (in gnomAD v2 1 het, absent from gnomAD v3)\r\nFamily #3 – p.Gly660Arg, AD, de novo\r\nFamily #4 – p.Gly660Arg, AD, segregated in 11 family members\r\nFamily #5 (this study) – p.Arg289Ter, AR, parents and 2 sibs asymptomatic carriers \r\nSources: Literature; to: Monoallelic variants cause epilepsy. Biallelic variant in this 5yo with p.Arg289Ter and another 5yo from another paper with homozygous p.Arg383Gln, reported to cause severe phenotype of drug-resistant epileptic encephalopathy with microcephaly, DD, movement disorder and growth retardation.\r\nThis paper references 5 other families with both AR & AD\r\nFamily #1 – p.Arg383Gln, AR, 2 affected in family, parents healthy carriers\r\nFamily #2 – p.Arg570Cys, AD, 2 affected, inherited from affected mother (in gnomAD v2 1 het, absent from gnomAD v3)\r\nFamily #3 – p.Gly660Arg, AD, de novo\r\nFamily #4 – p.Gly660Arg, AD, segregated in 11 family members\r\nFamily #5 (this study) – p.Arg289Ter, AR, parents and 2 sibs asymptomatic carriers \r\nSources: Literature","entity_name":"SV2A","entity_type":"gene"},{"created":"2023-12-07T13:23:44.514285+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.239","user_name":"Karina Sandoval","item_type":"entity","text":"gene: SV2A was added\ngene: SV2A was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: SV2A was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: SV2A were set to PMID: 37985816\nPhenotypes for gene: SV2A were set to Epilepsy, MONDO:0005027; microcephaly MONDO:0001149\nReview for gene: SV2A was set to AMBER\nAdded comment: Monoallelic variants cause epilepsy. Biallelic variant in this 5yo with p.Arg289Ter and another 5yo from another paper with homozygous p.Arg383Gln, reported to cause severe phenotype of drug-resistant epileptic encephalopathy with microcephaly, DD, movement disorder and growth retardation. \r\nThis paper references 5 other families with both AR & AD\r\nFamily #1 – p.Arg383Gln, AR, 2 affected in family, parents healthy carriers\r\nFamily #2 – p.Arg570Cys, AD, 2 affected, inherited from affected mother (in gnomAD v2 1 het, absent from gnomAD v3)\r\nFamily #3 – p.Gly660Arg, AD, de novo\r\nFamily #4 – p.Gly660Arg, AD, segregated in 11 family members\r\nFamily #5 (this study) – p.Arg289Ter, AR, parents and 2 sibs asymptomatic carriers \nSources: Literature","entity_name":"SV2A","entity_type":"gene"},{"created":"2023-12-07T13:17:17.452774+11:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.175","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: PKP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"PKP2","entity_type":"gene"},{"created":"2023-12-07T13:16:56.785882+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.26","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: PKP2 as Green List (high evidence)","entity_name":"PKP2","entity_type":"gene"},{"created":"2023-12-07T13:16:56.773821+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.26","user_name":"Elena Savva","item_type":"entity","text":"Gene: pkp2 has been classified as Green List (High Evidence).","entity_name":"PKP2","entity_type":"gene"}]}