{"count":220377,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=805","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=803","results":[{"created":"2022-07-01T11:03:17.480148+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.89","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: TNNT1 were changed from Nemaline myopathy 5, Amish type, MIM# 605355 to Nemaline myopathy 5, Amish type, MIM# 605355; nemaline myopathy MONDO:0018958","entity_name":"TNNT1","entity_type":"gene"},{"created":"2022-07-01T10:57:47.123606+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.88","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: TNNT1 were set to ","entity_name":"TNNT1","entity_type":"gene"},{"created":"2022-07-01T10:54:11.612367+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.87","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on mode of inheritance: There is emerging evidence for monoallelic mode of inheritance","entity_name":"TNNT1","entity_type":"gene"},{"created":"2022-07-01T10:54:11.590889+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.87","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: TNNT1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TNNT1","entity_type":"gene"},{"created":"2022-07-01T10:47:53.674907+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.86","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: TNNT1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TNNT1","entity_type":"gene"},{"created":"2022-07-01T10:44:36.336381+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.85","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: TNNT1: Rating: AMBER; Mode of pathogenicity: Other; Publications: 29178646, 35510366; Phenotypes: nemaline myopathy MONDO:0018958; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TNNT1","entity_type":"gene"},{"created":"2022-07-01T09:30:20.061079+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.85","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: EPHA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34638995, 19005574, 19649315, 19306328, 33671840; Phenotypes: Early-Onset Cataract, cataract 6 multiple types MONDO:0007288; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"EPHA2","entity_type":"gene"},{"created":"2022-07-01T07:46:15.293176+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.85","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GRIA1: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 67, MIM# 619927, Intellectual developmental disorder, autosomal recessive 76, MIM# 619931","entity_name":"GRIA1","entity_type":"gene"},{"created":"2022-07-01T07:45:39.297262+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.85","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GRIA1 were changed from Intellectual developmental disorder, autosomal dominant 67, MIM# 619927 to Intellectual developmental disorder, autosomal dominant 67, MIM# 619927; Intellectual developmental disorder, autosomal recessive 76, MIM# 619931","entity_name":"GRIA1","entity_type":"gene"},{"created":"2022-07-01T07:45:20.344052+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.84","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GRIA1 were set to 28628100; 23033978; 26350204; 24896178","entity_name":"GRIA1","entity_type":"gene"},{"created":"2022-07-01T07:45:01.167077+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.83","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GRIA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GRIA1","entity_type":"gene"},{"created":"2022-07-01T07:44:42.398361+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.82","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GRIA1: Added comment: Single individual reported with bi-allelic LoF variant. RED/AMBER for bi-allelic variants.; Changed publications: 28628100, 23033978, 26350204, 24896178, 35675825; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GRIA1","entity_type":"gene"},{"created":"2022-07-01T07:43:58.639578+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4831","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Single individual reported with bi-allelic LoF variant.; to: Single individual reported with bi-allelic LoF variant. RED/AMBER for bi-allelic variants.","entity_name":"GRIA1","entity_type":"gene"},{"created":"2022-07-01T07:43:40.654553+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4831","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GRIA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GRIA1","entity_type":"gene"},{"created":"2022-07-01T07:43:12.235816+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4830","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GRIA1 were changed from Intellectual developmental disorder, autosomal dominant 67, MIM# 619927 to Intellectual developmental disorder, autosomal dominant 67, MIM# 619927; Intellectual developmental disorder, autosomal recessive 76, MIM# 619931","entity_name":"GRIA1","entity_type":"gene"},{"created":"2022-07-01T07:42:31.833733+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4829","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GRIA1: Added comment: Single individual reported with bi-allelic LoF variant.; Changed publications: 35675825; Changed phenotypes: Intellectual developmental disorder, autosomal recessive 76, MIM# 619931","entity_name":"GRIA1","entity_type":"gene"},{"created":"2022-07-01T07:41:21.587201+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4829","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GRIA1 were changed from Intellectual disability; autism to Intellectual developmental disorder, autosomal dominant 67, MIM# 619927","entity_name":"GRIA1","entity_type":"gene"},{"created":"2022-07-01T07:40:47.246438+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4828","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GRIA1: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 67, MIM# 619927","entity_name":"GRIA1","entity_type":"gene"},{"created":"2022-07-01T07:40:12.278236+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.82","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GRIA1 were changed from Intellectual disability; autism to Intellectual developmental disorder, autosomal dominant 67, MIM# 619927","entity_name":"GRIA1","entity_type":"gene"},{"created":"2022-07-01T07:39:51.563521+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.81","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GRIA1: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 67, MIM# 619927","entity_name":"GRIA1","entity_type":"gene"},{"created":"2022-06-30T13:16:53.389026+10:00","panel_name":"Arrhythmia_SuperPanel","panel_id":254,"panel_version":"3.1","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Superpanel; Victorian Clinical Genetics Services; Rare Disease; Royal Melbourne Hospital","entity_name":null,"entity_type":null},{"created":"2022-06-30T08:44:32.632048+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.302","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MSH5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MSH5","entity_type":"gene"},{"created":"2022-06-30T08:43:37.493926+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.81","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MSH5 were changed from Premature ovarian failure 13, MIM#617442; Premature ovarian failure 13, MIM#617442 to Spermatogenic failure 74, MIM# 619937; Premature ovarian failure 13, MIM#617442","entity_name":"MSH5","entity_type":"gene"},{"created":"2022-06-30T08:43:13.292396+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.80","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MSH5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 74, MIM# 619937; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MSH5","entity_type":"gene"},{"created":"2022-06-30T08:42:38.411982+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.80","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MSH5 were changed from Premature ovarian failure 13 MIM#617442 to Premature ovarian failure 13, MIM#617442; Premature ovarian failure 13, MIM#617442","entity_name":"MSH5","entity_type":"gene"},{"created":"2022-06-29T17:11:24.079497+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.219","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AFF4 as ready","entity_name":"AFF4","entity_type":"gene"},{"created":"2022-06-29T17:11:24.063716+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.219","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aff4 has been classified as Green List (High Evidence).","entity_name":"AFF4","entity_type":"gene"},{"created":"2022-06-29T17:11:21.166929+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.219","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AFF4 were changed from ventricular septal defect; patent ductus arteriosus; patent foramen ovale to CHOPS syndrome, MIM#\t616368; ventricular septal defect; patent ductus arteriosus; patent foramen ovale","entity_name":"AFF4","entity_type":"gene"},{"created":"2022-06-29T17:10:42.968986+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.218","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AFF4 as Green List (high evidence)","entity_name":"AFF4","entity_type":"gene"},{"created":"2022-06-29T17:10:42.958023+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.218","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aff4 has been classified as Green List (High Evidence).","entity_name":"AFF4","entity_type":"gene"},{"created":"2022-06-29T17:10:00.226448+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.217","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: ACTC1: E101K is multiply reported as pathogenic/likely pathogenic for HCM rather than CHD in ClinVar.\r\n\r\nThe 17bp deletion was inherited from a parent, with a very questionable affected status (posteriorly deviated interventricular septum).","entity_name":"ACTC1","entity_type":"gene"},{"created":"2022-06-29T15:52:50.148885+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.217","user_name":"Chloe Stutterd","item_type":"entity","text":"gene: AFF4 was added\ngene: AFF4 was added to Congenital Heart Defect. Sources: Literature,Expert Review\nMode of inheritance for gene: AFF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AFF4 were set to 25730767; 31058441\nPhenotypes for gene: AFF4 were set to ventricular septal defect; patent ductus arteriosus; patent foramen ovale\nReview for gene: AFF4 was set to GREEN\nAdded comment: At least 15 unrelated individuals reported. CdL-like, clinically recognisable phenotype, characterised by cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia. CHD include VSD, PDA, PFO. \nSources: Literature, Expert Review","entity_name":"AFF4","entity_type":"gene"},{"created":"2022-06-29T15:29:34.704619+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.217","user_name":"Chloe Stutterd","item_type":"entity","text":"reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17611253, 17947298; Phenotypes: Atrial septal defect, Ventricular septal defect; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"ACTC1","entity_type":"gene"},{"created":"2022-06-28T12:39:51.901894+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.279","user_name":"Elena Savva","item_type":"entity","text":"gene: THSD1 was added\ngene: THSD1 was added to Hydrops fetalis. Sources: Literature\nMode of inheritance for gene: THSD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: THSD1 were set to PMID: 33569873; 27895300\nPhenotypes for gene: THSD1 were set to nonimmune hydrops fetalis\nReview for gene: THSD1 was set to GREEN\nAdded comment: PMID: 33569873 - 1 fetus with a homozygous PTC and nonimmune hydrops fetalis (NIHF), congenital heart disease and hemangiomas. Mother described as having Crohns disease but nothing else unusual, no comments on the father. Fx of 1/3 triplets with severe hydrops fetalis, not sequenced.\r\n- Paper reviews previous NIHF cases and reports another homozygous PTC in two families (4, 2 affected) and a recurring homozygous missense (p.Cys206Tyr) in three families (6, 4, 3 affected). \r\n- No mention of clinically affected heterozygotes.\r\n\r\nPMID: 27895300- Mouse model has hydrocephaly with poor perfusion. \nSources: Literature","entity_name":"THSD1","entity_type":"gene"},{"created":"2022-06-28T12:39:38.619920+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.79","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: THSD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33569873, 27895300; Phenotypes: Aneurysm, intracranial berry, 12 MIM# 618734, nonimmune hydrops fetalis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"THSD1","entity_type":"gene"},{"created":"2022-06-28T12:19:33.269309+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.344","user_name":"Chern Lim","item_type":"entity","text":"changed review comment from: PMID: 30239721:\r\nA de novo Ser482Cys gain-of-function variant in GLS, associated with profound developmental delay and\r\ninfantile cataract. \r\nFunctional analysis demonstrated that this variant causes hyperactivity and compensatory downregulation of GLS expression combined with upregulation of the counteracting enzyme GS, supporting pathogenicity.; to: PMID: 30239721:\r\nA de novo Ser482Cys gain-of-function variant in GLS, associated with profound developmental delay and infantile cataract. \r\nFunctional analysis demonstrated that this variant causes hyperactivity and compensatory downregulation of GLS expression combined with upregulation of the counteracting enzyme GS, supporting pathogenicity.","entity_name":"GLS","entity_type":"gene"},{"created":"2022-06-28T12:19:25.259082+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.344","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: GLS: Rating: AMBER; Mode of pathogenicity: Other; Publications: ; Phenotypes: Infantile cataract; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"GLS","entity_type":"gene"},{"created":"2022-06-28T11:52:19.251369+10:00","panel_name":"Polycystic liver disease","panel_id":3274,"panel_version":"1.0","user_name":"Bryony Thompson","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2022-06-28T11:50:20.102793+10:00","panel_name":"Polycystic liver disease","panel_id":3274,"panel_version":"0.28","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2022-06-28T08:23:11.875806+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.35","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: GCH1 as Green List (high evidence)","entity_name":"GCH1","entity_type":"gene"},{"created":"2022-06-28T08:23:11.867477+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.35","user_name":"Elena Savva","item_type":"entity","text":"Gene: gch1 has been classified as Green List (High Evidence).","entity_name":"GCH1","entity_type":"gene"},{"created":"2022-06-28T08:22:12.097493+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.34","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: GCH1 as Amber List (moderate evidence)","entity_name":"GCH1","entity_type":"gene"},{"created":"2022-06-28T08:22:12.085830+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.34","user_name":"Elena Savva","item_type":"entity","text":"Gene: gch1 has been classified as Amber List (Moderate Evidence).","entity_name":"GCH1","entity_type":"gene"},{"created":"2022-06-27T18:59:43.571128+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.79","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GCH1 were changed from Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230 to Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230; Hereditary spastic paraplegia MONDO:0019064, GCH1-related","entity_name":"GCH1","entity_type":"gene"},{"created":"2022-06-27T18:59:14.187385+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.78","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GCH1 were set to 7874165; 11113234; 15753436; 9667588; 10987649; 32170445; 32278297; 32746945; 30314816","entity_name":"GCH1","entity_type":"gene"},{"created":"2022-06-27T18:58:47.456012+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.77","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21935284, 24509643, 33713342; Phenotypes: Hereditary spastic paraplegia MONDO:0019064, GCH1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GCH1","entity_type":"gene"},{"created":"2022-06-27T18:58:23.046140+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.33","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GCH1 were set to 21935284; 24509643","entity_name":"GCH1","entity_type":"gene"},{"created":"2022-06-27T18:57:24.731246+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.32","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GCH1 were changed from Dystonia; progressive spastic paraplegia; Spastic paraplegia; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 to Hereditary spastic paraplegia MONDO:0019064, GCH1-related","entity_name":"GCH1","entity_type":"gene"},{"created":"2022-06-27T18:56:48.575930+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.31","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GCH1 as Green List (high evidence)","entity_name":"GCH1","entity_type":"gene"},{"created":"2022-06-27T18:56:48.568061+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gch1 has been classified as Green List (High Evidence).","entity_name":"GCH1","entity_type":"gene"},{"created":"2022-06-27T17:46:37.462551+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.77","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IL6ST: Changed phenotypes: Hyper-IgE recurrent infection syndrome 4A, autosomal dominant , MIM#619752, Hyper-IgE recurrent infection syndrome 4B, autosomal recessive, MIM# 618523, Stuve-Wiedemann syndrome 2, MIM# 619751: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response, Hyper-IgE syndrome, autosomal dominant, Immunodeficiency 94 with autoinflammation and dysmorphic facies, MIM#  619750","entity_name":"IL6ST","entity_type":"gene"},{"created":"2022-06-27T16:21:45.910647+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.30","user_name":"Elena Savva","item_type":"entity","text":"changed review comment from: PMID: 33713342 - additional three patients (2 families) with heterozygous variants and HSP, all had onset in childhood; to: PMID: 33713342 - additional three patients (2 families) with heterozygous variants and HSP, all had onset in childhood","entity_name":"GCH1","entity_type":"gene"},{"created":"2022-06-27T16:21:35.486884+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.30","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: GCH1: Rating: ; Mode of pathogenicity: None; Publications: PMID: 33713342, 24509643, 21935284; Phenotypes: Hereditary spastic paraplegia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GCH1","entity_type":"gene"},{"created":"2022-06-25T08:45:16.814072+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.215","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SHQ1 were changed from Dystonia; Neurodegeneration to Dystonia 35, childhood-onset , MIM# 619921; Neurodevelopmental disorder with dystonia and seizures, MIM# 619922","entity_name":"SHQ1","entity_type":"gene"},{"created":"2022-06-25T08:45:00.558282+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.214","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SHQ1: Changed phenotypes: Dystonia 35, childhood-onset , MIM# 619921, Neurodevelopmental disorder with dystonia and seizures, MIM# 619922","entity_name":"SHQ1","entity_type":"gene"},{"created":"2022-06-25T08:44:41.634263+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.481","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SHQ1 were changed from Dystonia; Neurodegeneration to Neurodevelopmental disorder with dystonia and seizures, MIM# 619922","entity_name":"SHQ1","entity_type":"gene"},{"created":"2022-06-25T08:44:13.795647+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.480","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SHQ1: Changed phenotypes: Neurodevelopmental disorder with dystonia and seizures, MIM# 619922","entity_name":"SHQ1","entity_type":"gene"},{"created":"2022-06-25T08:43:53.621871+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.77","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SHQ1 were changed from Dystonia; Neurodegeneration to Dystonia 35, childhood-onset , MIM# 619921; Neurodevelopmental disorder with dystonia and seizures, MIM# 619922","entity_name":"SHQ1","entity_type":"gene"},{"created":"2022-06-25T08:43:32.983245+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.76","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SHQ1: Changed phenotypes: Dystonia 35, childhood-onset , MIM# 619921, Neurodevelopmental disorder with dystonia and seizures, MIM# 619922","entity_name":"SHQ1","entity_type":"gene"},{"created":"2022-06-25T08:37:57.107965+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.76","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KCNA5 as Amber List (moderate evidence)","entity_name":"KCNA5","entity_type":"gene"},{"created":"2022-06-25T08:37:57.096947+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.76","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcna5 has been classified as Amber List (Moderate Evidence).","entity_name":"KCNA5","entity_type":"gene"},{"created":"2022-06-25T08:37:35.856410+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.75","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KCNA5: Added comment: Multiple families reported. At least one with LoF variant, rest missense. The missense variants are present in the population, ranging from 2 to 40 individuals in gnomad, which raises doubt about their pathogenicity.; Changed rating: AMBER","entity_name":"KCNA5","entity_type":"gene"},{"created":"2022-06-24T20:46:28.932066+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.137","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GREB1L as ready","entity_name":"GREB1L","entity_type":"gene"},{"created":"2022-06-24T20:46:28.916153+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.137","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: greb1l has been classified as Green List (High Evidence).","entity_name":"GREB1L","entity_type":"gene"},{"created":"2022-06-24T20:46:20.082986+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.137","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GREB1L as Green List (high evidence)","entity_name":"GREB1L","entity_type":"gene"},{"created":"2022-06-24T20:46:20.072719+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.137","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: greb1l has been classified as Green List (High Evidence).","entity_name":"GREB1L","entity_type":"gene"},{"created":"2022-06-24T11:00:46.439905+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.136","user_name":"Manny Jacobs","item_type":"entity","text":"gene: GREB1L was added\ngene: GREB1L was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: GREB1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GREB1L were set to PMID: 29100091; 29955957; 32585897; 35012281\nPhenotypes for gene: GREB1L were set to Renal hypodysplasia/aplasia 3, OMIM# 617805; Deafness, autosomal dominant 80, MIM# 619274\nReview for gene: GREB1L was set to GREEN\nAdded comment: 7 unrelated families reported for non syndromic AD deafness\r\n\r\nMultiple unrelated families reported with CAKUT \nSources: Literature","entity_name":"GREB1L","entity_type":"gene"},{"created":"2022-06-22T13:05:43.603963+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SEMA4A as ready","entity_name":"SEMA4A","entity_type":"gene"},{"created":"2022-06-22T13:05:43.592844+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sema4a has been classified as Red List (Low Evidence).","entity_name":"SEMA4A","entity_type":"gene"},{"created":"2022-06-22T13:05:33.074874+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SEMA4A were changed from Cone-rod dystrophy 10, 610283 (3) to Cone-rod dystrophy 10, 610283; Retinitis pigmentosa 35, 610282","entity_name":"SEMA4A","entity_type":"gene"},{"created":"2022-06-22T13:03:12.448797+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SEMA4A were set to ","entity_name":"SEMA4A","entity_type":"gene"},{"created":"2022-06-22T13:02:11.466940+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SEMA4A as Red List (low evidence)","entity_name":"SEMA4A","entity_type":"gene"},{"created":"2022-06-22T13:02:11.458848+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sema4a has been classified as Red List (Low Evidence).","entity_name":"SEMA4A","entity_type":"gene"},{"created":"2022-06-22T13:02:00.935747+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SEMA4A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"SEMA4A","entity_type":"gene"},{"created":"2022-06-22T13:01:04.170712+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SEC23A as ready","entity_name":"SEC23A","entity_type":"gene"},{"created":"2022-06-22T13:01:04.158561+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sec23a has been classified as Red List (Low Evidence).","entity_name":"SEC23A","entity_type":"gene"},{"created":"2022-06-22T13:00:57.122697+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SEC23A were changed from Craniolenticulosutural dysplasia, 607812 (3) to Craniolenticulosutural dysplasia (MIM# 607812)","entity_name":"SEC23A","entity_type":"gene"},{"created":"2022-06-22T13:00:42.811881+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SEC23A were set to ","entity_name":"SEC23A","entity_type":"gene"},{"created":"2022-06-22T13:00:32.681561+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SEC23A as Red List (low evidence)","entity_name":"SEC23A","entity_type":"gene"},{"created":"2022-06-22T13:00:32.669840+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sec23a has been classified as Red List (Low Evidence).","entity_name":"SEC23A","entity_type":"gene"},{"created":"2022-06-22T13:00:21.049570+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SEC23A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"SEC23A","entity_type":"gene"},{"created":"2022-06-22T12:59:33.088441+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NUP62 as ready","entity_name":"NUP62","entity_type":"gene"},{"created":"2022-06-22T12:59:33.075393+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nup62 has been classified as Red List (Low Evidence).","entity_name":"NUP62","entity_type":"gene"},{"created":"2022-06-22T12:59:30.048272+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NUP62 were changed from Striatonigral degeneration, infantile, 271930 (3) to Striatonigral degeneration, infantile - MIM#271930","entity_name":"NUP62","entity_type":"gene"},{"created":"2022-06-22T12:59:19.289220+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NUP62 were set to ","entity_name":"NUP62","entity_type":"gene"},{"created":"2022-06-22T12:59:10.316389+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NUP62 as Red List (low evidence)","entity_name":"NUP62","entity_type":"gene"},{"created":"2022-06-22T12:59:10.306828+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nup62 has been classified as Red List (Low Evidence).","entity_name":"NUP62","entity_type":"gene"},{"created":"2022-06-22T12:58:59.281649+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NUP62: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"NUP62","entity_type":"gene"},{"created":"2022-06-22T12:58:21.168771+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NLGN4X as ready","entity_name":"NLGN4X","entity_type":"gene"},{"created":"2022-06-22T12:58:21.160371+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nlgn4x has been classified as Red List (Low Evidence).","entity_name":"NLGN4X","entity_type":"gene"},{"created":"2022-06-22T12:58:17.815726+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NLGN4X were changed from Mental retardation, X-linked, 300495 (3) to Intellectual developmental disorder, X-linked (MIM#300495)","entity_name":"NLGN4X","entity_type":"gene"},{"created":"2022-06-22T12:58:07.156853+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NLGN4X were set to ","entity_name":"NLGN4X","entity_type":"gene"},{"created":"2022-06-22T12:57:55.555917+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NLGN4X as Red List (low evidence)","entity_name":"NLGN4X","entity_type":"gene"},{"created":"2022-06-22T12:57:55.544888+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nlgn4x has been classified as Red List (Low Evidence).","entity_name":"NLGN4X","entity_type":"gene"},{"created":"2022-06-22T12:57:21.410459+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDUFA11 as ready","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-06-22T12:57:21.393299+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufa11 has been classified as Red List (Low Evidence).","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-06-22T12:57:17.095084+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDUFA11 were changed from Mitochondrial complex I deficiency, 252010 (3) to Mitochondrial complex I deficiency, nuclear type 14, MIM#618236","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-06-22T12:57:05.728115+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFA11 were set to ","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-06-22T12:53:38.839752+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NDUFA11 as Red List (low evidence)","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-06-22T12:53:38.831131+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufa11 has been classified as Red List (Low Evidence).","entity_name":"NDUFA11","entity_type":"gene"}]}