{"count":220377,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=808","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=806","results":[{"created":"2022-06-02T12:29:22.661307+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4822","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SEMA6B as Green List (high evidence)","entity_name":"SEMA6B","entity_type":"gene"},{"created":"2022-06-02T12:29:22.652413+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4822","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sema6b has been classified as Green List (High Evidence).","entity_name":"SEMA6B","entity_type":"gene"},{"created":"2022-06-02T12:27:38.799491+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4821","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IREB2 were set to 30915432; 31243445; 11175792","entity_name":"IREB2","entity_type":"gene"},{"created":"2022-06-02T12:26:56.483335+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4820","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IREB2: Added comment: Additional individual reported in PMID 35602653; Changed publications: 30915432, 31243445, 11175792, 35602653","entity_name":"IREB2","entity_type":"gene"},{"created":"2022-06-02T12:26:26.366821+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.480","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IREB2 were set to 30915432; 31243445; 11175792","entity_name":"IREB2","entity_type":"gene"},{"created":"2022-06-02T12:25:50.147821+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.479","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IREB2: Added comment: Additional individual reported PMID 35602653; Changed publications: 30915432, 31243445, 11175792, 35602653","entity_name":"IREB2","entity_type":"gene"},{"created":"2022-06-02T12:25:21.657130+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.58","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IREB2 were set to 30915432; 31243445; 11175792","entity_name":"IREB2","entity_type":"gene"},{"created":"2022-06-02T12:23:59.951307+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GIMAP6 were changed from Autophagy, immune competence and inflammation to Autoinflammatory syndrome MONDO:0019751, GIMAP6-related","entity_name":"GIMAP6","entity_type":"gene"},{"created":"2022-06-02T12:22:54.581428+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.57","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GIMAP6 were changed from Autophagy, immune competence and inflammation to Autoinflammatory syndrome MONDO:0019751, GIMAP6-related","entity_name":"GIMAP6","entity_type":"gene"},{"created":"2022-06-02T12:22:25.384078+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.56","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GIMAP6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammatory syndrome MONDO:0019751, GIMAP6-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GIMAP6","entity_type":"gene"},{"created":"2022-06-02T12:19:13.457568+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTPN13 as ready","entity_name":"PTPN13","entity_type":"gene"},{"created":"2022-06-02T12:19:13.447146+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptpn13 has been classified as Amber List (Moderate Evidence).","entity_name":"PTPN13","entity_type":"gene"},{"created":"2022-06-02T12:19:06.713191+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PTPN13 as Amber List (moderate evidence)","entity_name":"PTPN13","entity_type":"gene"},{"created":"2022-06-02T12:19:06.701141+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptpn13 has been classified as Amber List (Moderate Evidence).","entity_name":"PTPN13","entity_type":"gene"},{"created":"2022-06-02T12:16:48.110459+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.56","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: BUB1 as Red List (low evidence)","entity_name":"BUB1","entity_type":"gene"},{"created":"2022-06-02T12:16:48.090227+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.56","user_name":"Elena Savva","item_type":"entity","text":"Gene: bub1 has been classified as Red List (Low Evidence).","entity_name":"BUB1","entity_type":"gene"},{"created":"2022-06-02T12:15:17.146273+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAN2 as ready","entity_name":"PAN2","entity_type":"gene"},{"created":"2022-06-02T12:15:17.123464+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pan2 has been classified as Green List (High Evidence).","entity_name":"PAN2","entity_type":"gene"},{"created":"2022-06-02T12:14:55.943856+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PAN2 as Green List (high evidence)","entity_name":"PAN2","entity_type":"gene"},{"created":"2022-06-02T12:14:55.932237+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pan2 has been classified as Green List (High Evidence).","entity_name":"PAN2","entity_type":"gene"},{"created":"2022-06-02T12:14:40.797586+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.39","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PAN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Syndromic disease MONDO:0002254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PAN2","entity_type":"gene"},{"created":"2022-06-02T12:13:35.278386+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4820","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAN2 as ready","entity_name":"PAN2","entity_type":"gene"},{"created":"2022-06-02T12:13:35.269603+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4820","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pan2 has been classified as Green List (High Evidence).","entity_name":"PAN2","entity_type":"gene"},{"created":"2022-06-02T12:11:04.630828+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4820","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PAN2 as Green List (high evidence)","entity_name":"PAN2","entity_type":"gene"},{"created":"2022-06-02T12:11:04.619028+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4820","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pan2 has been classified as Green List (High Evidence).","entity_name":"PAN2","entity_type":"gene"},{"created":"2022-06-02T12:10:10.652237+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.55","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PAN2 were changed from Neurodevelopmental disorder, MONDO:0700092, PAN2-related to Syndromic disease MONDO:0002254, PAN2-related","entity_name":"PAN2","entity_type":"gene"},{"created":"2022-06-02T12:09:43.082140+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.54","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PAN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Syndromic disease MONDO:0002254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PAN2","entity_type":"gene"},{"created":"2022-06-02T12:09:10.687805+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAN2 as ready","entity_name":"PAN2","entity_type":"gene"},{"created":"2022-06-02T12:09:10.674195+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pan2 has been classified as Green List (High Evidence).","entity_name":"PAN2","entity_type":"gene"},{"created":"2022-06-02T12:09:05.257312+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PAN2 as Green List (high evidence)","entity_name":"PAN2","entity_type":"gene"},{"created":"2022-06-02T12:09:05.247968+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pan2 has been classified as Green List (High Evidence).","entity_name":"PAN2","entity_type":"gene"},{"created":"2022-06-02T12:08:22.622837+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.217","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAN2 as ready","entity_name":"PAN2","entity_type":"gene"},{"created":"2022-06-02T12:08:22.614412+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.217","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pan2 has been classified as Green List (High Evidence).","entity_name":"PAN2","entity_type":"gene"},{"created":"2022-06-02T12:06:34.237796+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1615","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRPF8 as ready","entity_name":"PRPF8","entity_type":"gene"},{"created":"2022-06-02T12:06:34.226247+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1615","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prpf8 has been classified as Green List (High Evidence).","entity_name":"PRPF8","entity_type":"gene"},{"created":"2022-06-02T12:05:37.297245+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1615","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRPF8 were changed from Neurodevelopmental disorder MONDO:0700092, PRPF8-related; Retinitis pigmentosa 13 - MIM#600059 to Neurodevelopmental disorder MONDO:0700092, PRPF8-related; Retinitis pigmentosa 13 - MIM#600059","entity_name":"PRPF8","entity_type":"gene"},{"created":"2022-06-02T12:05:05.305441+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.54","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRPF8 were changed from Retinitis pigmentosa 13, MIM#600059 to Retinitis pigmentosa 13, MIM#600059; Neurodevelopmental disorder MONDO:0700092, PRPF8-related","entity_name":"PRPF8","entity_type":"gene"},{"created":"2022-06-02T12:04:51.629950+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1614","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRPF8 were changed from urodevelopmental disorder MONDO:0700092, PRPF8-related; Retinitis pigmentosa 13 - MIM#600059 to Neurodevelopmental disorder MONDO:0700092, PRPF8-related; Retinitis pigmentosa 13 - MIM#600059","entity_name":"PRPF8","entity_type":"gene"},{"created":"2022-06-02T12:04:04.012234+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.217","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: PAN2 as Green List (high evidence)","entity_name":"PAN2","entity_type":"gene"},{"created":"2022-06-02T12:04:03.993395+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.217","user_name":"Seb Lunke","item_type":"entity","text":"Gene: pan2 has been classified as Green List (High Evidence).","entity_name":"PAN2","entity_type":"gene"},{"created":"2022-06-02T12:03:59.454629+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1614","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRPF8 were changed from urodevelopmental disorder MONDO:0700092, PRPF8-related; Retinitis pigmentosa 13 - MIM#600059 to urodevelopmental disorder MONDO:0700092, PRPF8-related; Retinitis pigmentosa 13 - MIM#600059","entity_name":"PRPF8","entity_type":"gene"},{"created":"2022-06-02T12:03:46.964674+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.452","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23022098; Phenotypes: Combined oxidative phosphorylation deficiency 11 MIM#614922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"RMND1","entity_type":"gene"},{"created":"2022-06-02T12:02:38.266802+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.216","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: PAN2 as Green List (high evidence)","entity_name":"PAN2","entity_type":"gene"},{"created":"2022-06-02T12:02:38.256438+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.216","user_name":"Seb Lunke","item_type":"entity","text":"Gene: pan2 has been classified as Green List (High Evidence).","entity_name":"PAN2","entity_type":"gene"},{"created":"2022-06-02T12:01:56.291444+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1614","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRPF8 were changed from Epilepsy; intellectual disability; Retinitis pigmentosa 13 - MIM#600059 to urodevelopmental disorder MONDO:0700092, PRPF8-related; Retinitis pigmentosa 13 - MIM#600059","entity_name":"PRPF8","entity_type":"gene"},{"created":"2022-06-02T12:00:57.557230+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.127","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BUB1 as ready","entity_name":"BUB1","entity_type":"gene"},{"created":"2022-06-02T12:00:57.477723+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.127","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bub1 has been classified as Amber List (Moderate Evidence).","entity_name":"BUB1","entity_type":"gene"},{"created":"2022-06-02T12:00:50.962497+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.216","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: PAN2 as Green List (high evidence)","entity_name":"PAN2","entity_type":"gene"},{"created":"2022-06-02T12:00:50.952024+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.216","user_name":"Seb Lunke","item_type":"entity","text":"Gene: pan2 has been classified as Green List (High Evidence).","entity_name":"PAN2","entity_type":"gene"},{"created":"2022-06-02T12:00:10.150980+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4819","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26395190; Phenotypes: Combined oxidative phosphorylation deficiency 11 MIM#614922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"RMND1","entity_type":"gene"},{"created":"2022-06-02T11:59:43.988299+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.53","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: BUB1 as Amber List (moderate evidence)","entity_name":"BUB1","entity_type":"gene"},{"created":"2022-06-02T11:59:43.978873+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.53","user_name":"Elena Savva","item_type":"entity","text":"Gene: bub1 has been classified as Amber List (Moderate Evidence).","entity_name":"BUB1","entity_type":"gene"},{"created":"2022-06-02T11:58:28.773311+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.829","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: RRM1 as ready","entity_name":"RRM1","entity_type":"gene"},{"created":"2022-06-02T11:58:28.759403+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.829","user_name":"Seb Lunke","item_type":"entity","text":"Gene: rrm1 has been classified as Amber List (Moderate Evidence).","entity_name":"RRM1","entity_type":"gene"},{"created":"2022-06-02T11:58:15.271393+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.215","user_name":"Naomi Baker","item_type":"entity","text":"gene: PAN2 was added\ngene: PAN2 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: PAN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PAN2 were set to PMID:35304602; 29620724\nPhenotypes for gene: PAN2 were set to Syndromic disease MONDO:0002254\nReview for gene: PAN2 was set to GREEN\nAdded comment: PMID:35304602 reports five individuals from 3 families with biallelic (homozygous) loss-of-function variants. Clinical presentation incudes mild-moderate intellectual disability, hypotonia, sensorineural hearing loss, EEG abnormalities, congenital heart defects (tetralogy of Fallot, septal defects, dilated aortic root), urinary tract malformations, ophthalmological anomalies, short stature with other skeletal anomalies, and craniofacial features including flat occiput, ptosis, long philtrum, and short neck.\r\n\r\nPMID:29620724 reports one individual with biallelic (homozygous) loss-of-function variant who presented with global developmental delay, mild hypotonia, craniosynostosis, severe early-onset scoliosis, imperforate anus, and double urinary collecting system. \nSources: Literature","entity_name":"PAN2","entity_type":"gene"},{"created":"2022-06-02T11:57:54.019286+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.829","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: RRM1 as Amber List (moderate evidence)","entity_name":"RRM1","entity_type":"gene"},{"created":"2022-06-02T11:57:54.007270+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.829","user_name":"Seb Lunke","item_type":"entity","text":"Gene: rrm1 has been classified as Amber List (Moderate Evidence).","entity_name":"RRM1","entity_type":"gene"},{"created":"2022-06-02T11:57:15.559187+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.828","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: RRM1 as Amber List (moderate evidence)","entity_name":"RRM1","entity_type":"gene"},{"created":"2022-06-02T11:57:15.534838+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.828","user_name":"Seb Lunke","item_type":"entity","text":"Gene: rrm1 has been classified as Amber List (Moderate Evidence).","entity_name":"RRM1","entity_type":"gene"},{"created":"2022-06-02T11:56:51.745027+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.113","user_name":"Naomi Baker","item_type":"entity","text":"gene: PAN2 was added\ngene: PAN2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature\nMode of inheritance for gene: PAN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PAN2 were set to PMID:35304602; 29620724\nPhenotypes for gene: PAN2 were set to Syndromic disease MONDO:0002254\nReview for gene: PAN2 was set to GREEN\nAdded comment: PMID:35304602 reports five individuals from 3 families with biallelic (homozygous) loss-of-function variants. Clinical presentation incudes mild-moderate intellectual disability, hypotonia, sensorineural hearing loss, EEG abnormalities, congenital heart defects (tetralogy of Fallot, septal defects, dilated aortic root), urinary tract malformations, ophthalmological anomalies, short stature with other skeletal anomalies, and craniofacial features including flat occiput, ptosis, long philtrum, and short neck.\r\n\r\nPMID:29620724 reports one individual with biallelic (homozygous) loss-of-function variant who presented with global developmental delay, mild hypotonia, craniosynostosis, severe early-onset scoliosis, imperforate anus, and double urinary collecting system. \nSources: Literature","entity_name":"PAN2","entity_type":"gene"},{"created":"2022-06-02T11:56:02.947000+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.127","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BUB1 as Amber List (moderate evidence)","entity_name":"BUB1","entity_type":"gene"},{"created":"2022-06-02T11:56:02.894584+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.127","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bub1 has been classified as Amber List (Moderate Evidence).","entity_name":"BUB1","entity_type":"gene"},{"created":"2022-06-02T11:55:58.487470+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.827","user_name":"Daniel Flanagan","item_type":"entity","text":"gene: RRM1 was added\ngene: RRM1 was added to Mitochondrial disease. Sources: Expert list\nMode of inheritance for gene: RRM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RRM1 were set to PMID: 35617047\nPhenotypes for gene: RRM1 were set to Multiple mitochondrial DNA deletion syndrome (MONDO:0016797)\nReview for gene: RRM1 was set to AMBER\nAdded comment: Homozygous missense were identified in 4 four probands (p.Arg381Cys or p.Arg381His) from three families, who presented with ptosis and ophthalmoplegia, plus other manifestations and multiple mtDNA deletions in muscle. Heterozygous carriers were unaffected. An additional proband was heterozygous for a different RRM1 missense (p.Asn427Lys), another variant not identified. \nSources: Expert list","entity_name":"RRM1","entity_type":"gene"},{"created":"2022-06-02T11:55:36.948491+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.127","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BUB1 as Amber List (moderate evidence)","entity_name":"BUB1","entity_type":"gene"},{"created":"2022-06-02T11:55:36.939727+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.127","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bub1 has been classified as Amber List (Moderate Evidence).","entity_name":"BUB1","entity_type":"gene"},{"created":"2022-06-02T11:55:28.865730+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.131","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: LMOD2 as ready","entity_name":"LMOD2","entity_type":"gene"},{"created":"2022-06-02T11:55:28.852114+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.131","user_name":"Seb Lunke","item_type":"entity","text":"Gene: lmod2 has been classified as Green List (High Evidence).","entity_name":"LMOD2","entity_type":"gene"},{"created":"2022-06-02T11:55:20.876204+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.131","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: LMOD2 as Green List (high evidence)","entity_name":"LMOD2","entity_type":"gene"},{"created":"2022-06-02T11:55:20.866186+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.131","user_name":"Seb Lunke","item_type":"entity","text":"Gene: lmod2 has been classified as Green List (High Evidence).","entity_name":"LMOD2","entity_type":"gene"},{"created":"2022-06-02T11:55:11.186879+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1613","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRPF8 as Green List (high evidence)","entity_name":"PRPF8","entity_type":"gene"},{"created":"2022-06-02T11:55:11.176424+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1613","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prpf8 has been classified as Green List (High Evidence).","entity_name":"PRPF8","entity_type":"gene"},{"created":"2022-06-02T11:53:27.810896+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.52","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: RRM1 as ready","entity_name":"RRM1","entity_type":"gene"},{"created":"2022-06-02T11:53:27.790835+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.52","user_name":"Seb Lunke","item_type":"entity","text":"Gene: rrm1 has been classified as Amber List (Moderate Evidence).","entity_name":"RRM1","entity_type":"gene"},{"created":"2022-06-02T11:53:22.123423+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4819","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRPF8 as ready","entity_name":"PRPF8","entity_type":"gene"},{"created":"2022-06-02T11:53:22.109833+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4819","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prpf8 has been classified as Green List (High Evidence).","entity_name":"PRPF8","entity_type":"gene"},{"created":"2022-06-02T11:53:10.739568+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.52","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BUB1 as ready","entity_name":"BUB1","entity_type":"gene"},{"created":"2022-06-02T11:53:10.729751+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.52","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bub1 has been classified as Green List (High Evidence).","entity_name":"BUB1","entity_type":"gene"},{"created":"2022-06-02T11:52:56.255280+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.52","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: RRM1 as Amber List (moderate evidence)","entity_name":"RRM1","entity_type":"gene"},{"created":"2022-06-02T11:52:56.250905+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.52","user_name":"Seb Lunke","item_type":"entity","text":"Added comment: Comment on list classification: 3 families but only 2 Hom variants, not convinced they are definitely unrelated. 4th probed inconclusive.","entity_name":"RRM1","entity_type":"gene"},{"created":"2022-06-02T11:52:56.221144+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.52","user_name":"Seb Lunke","item_type":"entity","text":"Gene: rrm1 has been classified as Amber List (Moderate Evidence).","entity_name":"RRM1","entity_type":"gene"},{"created":"2022-06-02T11:52:54.955449+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.52","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BUB1 were changed from Intellectual disability and microcephaly to Neurodevelopmental disorder, BUB1-related MONDO:0700092","entity_name":"BUB1","entity_type":"gene"},{"created":"2022-06-02T11:52:22.270490+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.51","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BUB1 as Green List (high evidence)","entity_name":"BUB1","entity_type":"gene"},{"created":"2022-06-02T11:52:22.258689+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.51","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bub1 has been classified as Green List (High Evidence).","entity_name":"BUB1","entity_type":"gene"},{"created":"2022-06-02T11:51:41.165810+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4819","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRPF8 were changed from Intellectual disability; epilepsy; Retinitis pigmentosa 13 - MIM#600059 to Neurodevelopmental disorder MONDO:0700092, PRPF8-related; Retinitis pigmentosa 13 - MIM#600059","entity_name":"PRPF8","entity_type":"gene"},{"created":"2022-06-02T11:51:34.337281+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.39","user_name":"Naomi Baker","item_type":"entity","text":"gene: PAN2 was added\ngene: PAN2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: PAN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PAN2 were set to PMID:35304602; 29620724\nPhenotypes for gene: PAN2 were set to Syndromic disease MONDO:0002254\nAdded comment: PMID:35304602 reports five individuals from 3 families with biallelic (homozygous) loss-of-function variants. Clinical presentation incudes mild-moderate intellectual disability, hypotonia, sensorineural hearing loss, EEG abnormalities, congenital heart defects (tetralogy of Fallot, septal defects, dilated aortic root), urinary tract malformations, ophthalmological anomalies, short stature with other skeletal anomalies, and craniofacial features including flat occiput, ptosis, long philtrum, and short neck.\r\n\r\nPMID:29620724 reports one individual with biallelic (homozygous) loss-of-function variant who presented with global developmental delay, mild hypotonia, craniosynostosis, severe early-onset scoliosis, imperforate anus, and double urinary collecting system. \nSources: Literature","entity_name":"PAN2","entity_type":"gene"},{"created":"2022-06-02T11:51:32.341258+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4818","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BUB1 as ready","entity_name":"BUB1","entity_type":"gene"},{"created":"2022-06-02T11:51:32.330097+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4818","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bub1 has been classified as Amber List (Moderate Evidence).","entity_name":"BUB1","entity_type":"gene"},{"created":"2022-06-02T11:50:19.776591+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4818","user_name":"Naomi Baker","item_type":"entity","text":"gene: PAN2 was added\ngene: PAN2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PAN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PAN2 were set to PMID:35304602; 29620724\nPhenotypes for gene: PAN2 were set to Syndromic disease MONDO:0002254\nReview for gene: PAN2 was set to GREEN\nAdded comment: PMID:35304602 reports five individuals from 3 families with biallelic (homozygous) loss-of-function variants. Clinical presentation incudes mild-moderate intellectual disability, hypotonia, sensorineural hearing loss, EEG abnormalities, congenital heart defects (tetralogy of Fallot, septal defects, dilated aortic root), urinary tract malformations, ophthalmological anomalies, short stature with other skeletal anomalies, and craniofacial features including flat occiput, ptosis, long philtrum, and short neck.\r\n\r\nPMID:29620724 reports one individual with biallelic (homozygous) loss-of-function variant who presented with global developmental delay, mild hypotonia, craniosynostosis, severe early-onset scoliosis, imperforate anus, and double urinary collecting system. \nSources: Literature","entity_name":"PAN2","entity_type":"gene"},{"created":"2022-06-02T11:49:40.777623+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4818","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRPF8 as Green List (high evidence)","entity_name":"PRPF8","entity_type":"gene"},{"created":"2022-06-02T11:49:40.768616+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4818","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prpf8 has been classified as Green List (High Evidence).","entity_name":"PRPF8","entity_type":"gene"},{"created":"2022-06-02T11:48:56.998053+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.130","user_name":"Melanie Marty","item_type":"entity","text":"gene: LMOD2 was added\ngene: LMOD2 was added to Cardiomyopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: LMOD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LMOD2 were set to 31517052; 34888509; 5082396; 35188328; 26487682\nPhenotypes for gene: LMOD2 were set to Dilated cardiomyopathy MONDO:0005021\nReview for gene: LMOD2 was set to GREEN\nAdded comment: 4 unrelated families with early onset dilated cardiomyopathy, autosomal recessive inheritance, functional studies showing loss of protein and a mouse model reported.  \r\n\r\nPMID: 31517052 1 x neonate with DCM, homozygous nonsense variant identified.\r\n\r\nPMID: 34888509 2 x neonatal deaths (from 1 family) related to dilated cardiomyopathy (DCM),  compound heterozygous loss-of-function variants identified.\r\n\r\nPMID:35082396 2 x siblings with DCM who died shortly after birth due to heart failure, homozygous canonical splice variant identified. Functional studies show loss of donor site and loss of protein.\r\n\r\nPMID: 35188328 1 x child (9 months) with DCM, with homozygous frameshift variant. Functional studies showed absence of LMOD2 protein (western blot). \r\n\r\nPMID: 26487682 Lmod2 null (knockout) mice present with short cardiac thin filaments and die at ~3 weeks due to dysfunctional, dilated hearts \nSources: Literature","entity_name":"LMOD2","entity_type":"gene"},{"created":"2022-06-02T11:48:42.635420+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1612","user_name":"Krithika Murali","item_type":"entity","text":"changed review comment from: PMID 35543142 O'Grady et al 2022 report 14 unrelated individuals with heterozygous PRPF8 variants and ID, dymorphic features and epilepsy (7/14). Short stature, abnormal gait and cardiac anomalies also reported. 11 variants identified were de novo, 1 variant - maternal mosaicism, 1 variant - duo sequencing (not identified in mother, father could not be sequenced). 1 individual did not have parental testing. Cardiac anomalies varied and included benign cardiac tumour, dilated cardiomyopathy, dilated aortic root (COL5A2 VUS also identified), bicuspid aortic valve, cardiac arrest, self-resolving ASD/VSD.\r\n\r\nHeterozygous PRPF8 variants previously associated with retinitis pigmentosa. 1 out of the 14 individuals in this cohort had a diagnosis of RP. RP variants noted to cluster in the C'terminal MPN domain. The individual with RP in this paper had a variant in the preceding RNAase H homology domain near the C-terminus. Not all of the individuals in this paper had formal ophthalmological examination. \nSources: Literature; to: PMID 35543142 O'Grady et al 2022 report 14 unrelated individuals with heterozygous PRPF8 variants and ID, dev delay, dymorphic features and epilepsy (7/14). Short stature, abnormal gait and cardiac anomalies also reported. 11 variants identified were de novo, 1 variant - maternal mosaicism, 1 variant - duo sequencing (not identified in mother, father could not be sequenced). 1 individual did not have parental testing. Cardiac anomalies varied and included benign cardiac tumour, dilated cardiomyopathy, dilated aortic root (COL5A2 VUS also identified), bicuspid aortic valve, cardiac arrest, self-resolving ASD/VSD.\r\n\r\nHeterozygous PRPF8 variants previously associated with retinitis pigmentosa. 1 out of the 14 individuals in this cohort had a diagnosis of RP. RP variants noted to cluster in the C'terminal MPN domain. The individual with RP in this paper had a variant in the preceding RNAase H homology domain near the C-terminus. Not all of the individuals in this paper had formal ophthalmological examination. \r\nSources: Literature","entity_name":"PRPF8","entity_type":"gene"},{"created":"2022-06-02T11:48:23.730306+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4817","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BUB1 as Amber List (moderate evidence)","entity_name":"BUB1","entity_type":"gene"},{"created":"2022-06-02T11:48:23.718531+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4817","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bub1 has been classified as Amber List (Moderate Evidence).","entity_name":"BUB1","entity_type":"gene"},{"created":"2022-06-02T11:47:56.138296+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.50","user_name":"Chloe Stutterd","item_type":"entity","text":"gene: ATOH1 was added\ngene: ATOH1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature,Expert Review\nMode of inheritance for gene: ATOH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATOH1 were set to 35518571\nPhenotypes for gene: ATOH1 were set to Pontocerebellar hypoplasia MONDO:0020135, ATOH1-related\nPenetrance for gene: ATOH1 were set to unknown\nReview for gene: ATOH1 was set to AMBER\nAdded comment: Single report of novel homozygous variant in functional domain in two affected siblings with pontocerebellar hypoplasia, developmental delay and hearing loss. Similar phenotype previously reported in animal model with bi-allelic missense variant in same functional domain. \nSources: Literature, Expert Review","entity_name":"ATOH1","entity_type":"gene"},{"created":"2022-06-02T11:47:42.024382+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.50","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAN2 as ready","entity_name":"PAN2","entity_type":"gene"},{"created":"2022-06-02T11:47:42.000259+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.50","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pan2 has been classified as Green List (High Evidence).","entity_name":"PAN2","entity_type":"gene"},{"created":"2022-06-02T11:47:03.431175+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.50","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PAN2 as Green List (high evidence)","entity_name":"PAN2","entity_type":"gene"},{"created":"2022-06-02T11:47:03.415931+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.50","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pan2 has been classified as Green List (High Evidence).","entity_name":"PAN2","entity_type":"gene"},{"created":"2022-06-02T11:44:35.614766+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.49","user_name":"Daniel Flanagan","item_type":"entity","text":"gene: RRM1 was added\ngene: RRM1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: RRM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RRM1 were set to 35617047\nPhenotypes for gene: RRM1 were set to Multiple mitochondrial DNA deletion syndrome (MONDO:0016797)\nReview for gene: RRM1 was set to GREEN\nAdded comment: Homozygous missense were identified in 4 four probands (p.Arg381Cys or p.Arg381His) from three families, who presented with ptosis and ophthalmoplegia, plus other manifestations and multiple mtDNA deletions in muscle. Heterozygous carriers were unaffected. An additional proband was heterozygous for a different RRM1 missense (p.Asn427Lys), another variant not identified. \nSources: Expert list","entity_name":"RRM1","entity_type":"gene"}]}