{"count":220842,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=200","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=198","results":[{"created":"2025-07-11T19:49:25.380277+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2703","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: FOXR1 were changed from Postnatal microcephaly, progressive brain atrophy and global developmental delay to Postnatal microcephaly, progressive brain atrophy and global developmental delay; Neurodevelopmental disorder MONDO:0700092","entity_name":"FOXR1","entity_type":"gene"},{"created":"2025-07-11T19:28:27.169944+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2702","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: FOXP4 were changed from Neurodevelopmental disorder; multiple congenital abnormalities to Complex neurodevelopmental disorder MONDO:0100038","entity_name":"FOXP4","entity_type":"gene"},{"created":"2025-07-10T22:40:24.438154+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.167","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LONP1 as ready","entity_name":"LONP1","entity_type":"gene"},{"created":"2025-07-10T22:40:24.427702+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.167","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lonp1 has been classified as Green List (High Evidence).","entity_name":"LONP1","entity_type":"gene"},{"created":"2025-07-10T22:40:19.630560+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.167","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LONP1 as Green List (high evidence)","entity_name":"LONP1","entity_type":"gene"},{"created":"2025-07-10T22:40:19.623703+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.167","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lonp1 has been classified as Green List (High Evidence).","entity_name":"LONP1","entity_type":"gene"},{"created":"2025-07-10T22:39:52.877434+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.166","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LONP1 was added\ngene: LONP1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: LONP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: LONP1 were set to 31636596; 36353900; 31923470\nPhenotypes for gene: LONP1 were set to CODAS syndrome, MIM#600373; mitochondrial disease (MONDO:0044970), LONP1-related\nReview for gene: LONP1 was set to GREEN\nAdded comment: Seizures rarely reported with bi-allelic disease.\r\n\r\nNew reports of autosomal dominant mitochondrial disease due to missense variants at p.Arg301.\r\n\r\n- PMID: 36353900; Hartley 2023: 1x heterozygous de novo individual with p.(Arg301Gln), with dystonia, hearing loss, seizures.\r\np.(Arg301Gln) has been reported as de novo in a heterozygous individual with dystonia, delayed speech and language development (VCGS/MCRI internal case)\r\n\r\n- PMID: 31923470; Besse 2020: 1x heterozygous de novo individual with p.(Arg301Trp) with seizures, encephalopathy, pachygyria and microcephaly.\r\n- p.(Arg301Trp) has also been reported in a heterozygous individual with recurrent neonatal seizures, suspected mitochondrial disorder, elevated lactate, microcephaly, EEG showing significantly increased seizure susceptibility which was de novo but parentage not tested (ClinVar, personal communication).\r\n- p.(Arg301Trp) has also been identified in a heterozygous individual with neonatal intractable epileptic encephalopathy and lactic acidosis. MRI changes in keeping with mitochondrial disorder, a combined Complex I and complex IV defect identified in muscle (but not liver) by RCE (VCGS/MCRI internal case)\r\n\r\n- p.(Arg301Gly) has been reported de novo in a heterozygous individual with epileptic encephalopathy, microcephaly and dyskinesia (ClinVar, personal communication)\r\n\r\nLONP1 functions as both a chaperone and an ATP-dependent protease. Functional evidence in Besse shows p.(Arg301Trp) results in loss of chaperone activity but retains proteolytic activity. Expression of WT LONP1 in patient fibroblast cells did not rescue dysfunction (measured via levels of MRPL44, RPL11, PDHE1a, TFAM, PINK1, complex 1 and complex IV) - indicating NOT LoF effect. Overexpression of LONP1 in control fibroblast cells leads to dysfunction (decrease in NDUFB8, COXIV, MRPL44 and TFAM), however, MRPL11, PDHE1a and PINK1 proteins were unchanged compared to controls. Variant p.R721G associated with AR disease showed decreased homo-oligomerisation whilst p.R301W showed increased WT-Mut and WT-WT oligomers. GoF was suggested but no dose-dependent studies so DN cannot be excluded. \nSources: Literature","entity_name":"LONP1","entity_type":"gene"},{"created":"2025-07-10T22:37:15.304332+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.191","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LONP1 were changed from CODAS syndrome, MIM#600373; Mitochondrial cytopathy to CODAS syndrome, MIM#600373; mitochondrial disease (MONDO:0044970), LONP1-related","entity_name":"LONP1","entity_type":"gene"},{"created":"2025-07-10T22:36:51.364336+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.190","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LONP1 were set to 31636596","entity_name":"LONP1","entity_type":"gene"},{"created":"2025-07-10T22:36:19.219574+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.189","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LONP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"LONP1","entity_type":"gene"},{"created":"2025-07-10T22:35:53.213851+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.188","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LONP1: Added comment: New reports of autosomal dominant mitochondrial disease due to missense variants at p.Arg301.\r\n\r\n- PMID: 36353900; Hartley 2023: 1x heterozygous de novo individual with p.(Arg301Gln), with dystonia, hearing loss, seizures.\r\np.(Arg301Gln) has been reported as de novo in a heterozygous individual with dystonia, delayed speech and language development (VCGS/MCRI internal case)\r\n\r\n- PMID: 31923470; Besse 2020: 1x heterozygous de novo individual with p.(Arg301Trp) with seizures, encephalopathy, pachygyria and microcephaly.\r\n- p.(Arg301Trp) has also been reported in a heterozygous individual with recurrent neonatal seizures, suspected mitochondrial disorder, elevated lactate, microcephaly, EEG showing significantly increased seizure susceptibility which was de novo but parentage not tested (ClinVar, personal communication).\r\n- p.(Arg301Trp) has also been identified in a heterozygous individual with neonatal intractable epileptic encephalopathy and lactic acidosis. MRI changes in keeping with mitochondrial disorder, a combined Complex I and complex IV defect identified in muscle (but not liver) by RCE (VCGS/MCRI internal case)\r\n\r\n- p.(Arg301Gly) has been reported de novo in a heterozygous individual with epileptic encephalopathy, microcephaly and dyskinesia (ClinVar, personal communication)\r\n\r\nLONP1 functions as both a chaperone and an ATP-dependent protease. Functional evidence in Besse shows p.(Arg301Trp) results in loss of chaperone activity but retains proteolytic activity. Expression of WT LONP1 in patient fibroblast cells did not rescue dysfunction (measured via levels of MRPL44, RPL11, PDHE1a, TFAM, PINK1, complex 1 and complex IV) - indicating NOT LoF effect. Overexpression of LONP1 in control fibroblast cells leads to dysfunction (decrease in NDUFB8, COXIV, MRPL44 and TFAM), however, MRPL11, PDHE1a and PINK1 proteins were unchanged compared to controls. Variant p.R721G associated with AR disease showed decreased homo-oligomerisation whilst p.R301W showed increased WT-Mut and WT-WT oligomers. GoF was suggested but no dose-dependent studies so DN cannot be excluded.; Changed publications: 31636596, 36353900 31923470; Changed phenotypes: CODAS syndrome, MIM#600373, mitochondrial disease (MONDO:0044970), LONP1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"LONP1","entity_type":"gene"},{"created":"2025-07-10T22:34:37.963275+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.980","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LONP1 were changed from CODAS syndrome, MIM#600373; Mitochondrial cytopathy to CODAS syndrome, MIM#600373; mitochondrial disease (MONDO:0044970), LONP1-related","entity_name":"LONP1","entity_type":"gene"},{"created":"2025-07-10T22:34:07.750395+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.979","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LONP1 were set to 31636596","entity_name":"LONP1","entity_type":"gene"},{"created":"2025-07-10T22:33:21.419491+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.978","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LONP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"LONP1","entity_type":"gene"},{"created":"2025-07-10T22:32:19.226003+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2701","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LONP1 were changed from CODAS syndrome, MIM#600373; Mitochondrial cytopathy to CODAS syndrome, MIM#600373; mitochondrial disease (MONDO:0044970), LONP1-related","entity_name":"LONP1","entity_type":"gene"},{"created":"2025-07-10T22:31:59.579477+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2700","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LONP1 were set to 31636596","entity_name":"LONP1","entity_type":"gene"},{"created":"2025-07-10T22:31:40.881760+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2699","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LONP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"LONP1","entity_type":"gene"},{"created":"2025-07-10T13:35:37.988425+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.977","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: LONP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36353900, 31923470; Phenotypes: mitochondrial disease (MONDO:0044970), LONP1-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"LONP1","entity_type":"gene"},{"created":"2025-07-10T13:35:26.839448+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2698","user_name":"Lauren Rogers","item_type":"entity","text":"Deleted their comment","entity_name":"LONP1","entity_type":"gene"},{"created":"2025-07-10T13:35:15.788238+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2698","user_name":"Lauren Rogers","item_type":"entity","text":"changed review comment from: ew reports of autosomal dominant mitochondrial disease due to missense variants at p.Arg301. \r\n\r\n- PMID: 36353900; Hartley 2023: 1x heterozygous de novo individual with p.(Arg301Gln), with dystonia, hearing loss, seizures.\r\np.(Arg301Gln) has been reported as de novo in a heterozygous individual with dystonia, delayed speech and language development (VCGS/MCRI internal case)\r\n\r\n- PMID: 31923470; Besse 2020: 1x heterozygous de novo individual with p.(Arg301Trp) with seizures, encephalopathy, pachygyria and microcephaly.\r\n- p.(Arg301Trp) has also been reported in a heterozygous individual with recurrent neonatal seizures, suspected mitochondrial disorder, elevated lactate, microcephaly, EEG showing significantly increased seizure susceptibility which was de novo but parentage not tested (ClinVar, personal communication).\r\n- p.(Arg301Trp) has also been identified in a heterozygous individual with neonatal intractable epileptic encephalopathy and lactic acidosis. MRI changes in keeping with mitochondrial disorder, a combined Complex I and complex IV defect identified in muscle (but not liver) by RCE (VCGS/MCRI internal case)\r\n\r\n- p.(Arg301Gly) has been reported de novo in a heterozygous individual with epileptic encephalopathy, microcephaly and dyskinesia (ClinVar, personal communication)\r\n\r\nLONP1 functions as both a chaperone and an ATP-dependent protease. Functional evidence in Besse shows p.(Arg301Trp) results in loss of chaperone activity but retains proteolytic activity. Expression of WT LONP1 in patient fibroblast cells did not rescue dysfunction (measured via levels of MRPL44, RPL11, PDHE1a, TFAM, PINK1, complex 1 and complex IV) - indicating NOT LoF effect. Overexpression of LONP1 in control fibroblast cells leads to dysfunction (decrease in NDUFB8, COXIV, MRPL44 and TFAM), however, MRPL11, PDHE1a and PINK1 proteins were unchanged compared to controls. Variant p.R721G associated with AR disease showed decreased homo-oligomerisation whilst p.R301W showed increased WT-Mut and WT-WT oligomers. GoF was suggested but no dose-dependent studies so DN cannot be excluded.; to: New reports of autosomal dominant mitochondrial disease due to missense variants at p.Arg301. \r\n\r\n- PMID: 36353900; Hartley 2023: 1x heterozygous de novo individual with p.(Arg301Gln), with dystonia, hearing loss, seizures.\r\np.(Arg301Gln) has been reported as de novo in a heterozygous individual with dystonia, delayed speech and language development (VCGS/MCRI internal case)\r\n\r\n- PMID: 31923470; Besse 2020: 1x heterozygous de novo individual with p.(Arg301Trp) with seizures, encephalopathy, pachygyria and microcephaly.\r\n- p.(Arg301Trp) has also been reported in a heterozygous individual with recurrent neonatal seizures, suspected mitochondrial disorder, elevated lactate, microcephaly, EEG showing significantly increased seizure susceptibility which was de novo but parentage not tested (ClinVar, personal communication).\r\n- p.(Arg301Trp) has also been identified in a heterozygous individual with neonatal intractable epileptic encephalopathy and lactic acidosis. MRI changes in keeping with mitochondrial disorder, a combined Complex I and complex IV defect identified in muscle (but not liver) by RCE (VCGS/MCRI internal case)\r\n\r\n- p.(Arg301Gly) has been reported de novo in a heterozygous individual with epileptic encephalopathy, microcephaly and dyskinesia (ClinVar, personal communication)\r\n\r\nLONP1 functions as both a chaperone and an ATP-dependent protease. Functional evidence in Besse shows p.(Arg301Trp) results in loss of chaperone activity but retains proteolytic activity. Expression of WT LONP1 in patient fibroblast cells did not rescue dysfunction (measured via levels of MRPL44, RPL11, PDHE1a, TFAM, PINK1, complex 1 and complex IV) - indicating NOT LoF effect. Overexpression of LONP1 in control fibroblast cells leads to dysfunction (decrease in NDUFB8, COXIV, MRPL44 and TFAM), however, MRPL11, PDHE1a and PINK1 proteins were unchanged compared to controls. Variant p.R721G associated with AR disease showed decreased homo-oligomerisation whilst p.R301W showed increased WT-Mut and WT-WT oligomers. GoF was suggested but no dose-dependent studies so DN cannot be excluded.","entity_name":"LONP1","entity_type":"gene"},{"created":"2025-07-10T13:34:58.464050+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2698","user_name":"Lauren Rogers","item_type":"entity","text":"commented on gene: LONP1: ew reports of autosomal dominant mitochondrial disease due to missense variants at p.Arg301. \r\n\r\n- PMID: 36353900; Hartley 2023: 1x heterozygous de novo individual with p.(Arg301Gln), with dystonia, hearing loss, seizures.\r\np.(Arg301Gln) has been reported as de novo in a heterozygous individual with dystonia, delayed speech and language development (VCGS/MCRI internal case)\r\n\r\n- PMID: 31923470; Besse 2020: 1x heterozygous de novo individual with p.(Arg301Trp) with seizures, encephalopathy, pachygyria and microcephaly.\r\n- p.(Arg301Trp) has also been reported in a heterozygous individual with recurrent neonatal seizures, suspected mitochondrial disorder, elevated lactate, microcephaly, EEG showing significantly increased seizure susceptibility which was de novo but parentage not tested (ClinVar, personal communication).\r\n- p.(Arg301Trp) has also been identified in a heterozygous individual with neonatal intractable epileptic encephalopathy and lactic acidosis. MRI changes in keeping with mitochondrial disorder, a combined Complex I and complex IV defect identified in muscle (but not liver) by RCE (VCGS/MCRI internal case)\r\n\r\n- p.(Arg301Gly) has been reported de novo in a heterozygous individual with epileptic encephalopathy, microcephaly and dyskinesia (ClinVar, personal communication)\r\n\r\nLONP1 functions as both a chaperone and an ATP-dependent protease. Functional evidence in Besse shows p.(Arg301Trp) results in loss of chaperone activity but retains proteolytic activity. Expression of WT LONP1 in patient fibroblast cells did not rescue dysfunction (measured via levels of MRPL44, RPL11, PDHE1a, TFAM, PINK1, complex 1 and complex IV) - indicating NOT LoF effect. Overexpression of LONP1 in control fibroblast cells leads to dysfunction (decrease in NDUFB8, COXIV, MRPL44 and TFAM), however, MRPL11, PDHE1a and PINK1 proteins were unchanged compared to controls. Variant p.R721G associated with AR disease showed decreased homo-oligomerisation whilst p.R301W showed increased WT-Mut and WT-WT oligomers. GoF was suggested but no dose-dependent studies so DN cannot be excluded.","entity_name":"LONP1","entity_type":"gene"},{"created":"2025-07-10T13:34:56.426733+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2698","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: LONP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36353900, 31923470; Phenotypes: mitochondrial disease (MONDO:0044970), LONP1-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"LONP1","entity_type":"gene"},{"created":"2025-07-09T04:26:28.309393+10:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHD8 as ready","entity_name":"CHD8","entity_type":"gene"},{"created":"2025-07-09T04:26:28.302211+10:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chd8 has been classified as Red List (Low Evidence).","entity_name":"CHD8","entity_type":"gene"},{"created":"2025-07-09T04:26:16.713615+10:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CHD8 as Red List (low evidence)","entity_name":"CHD8","entity_type":"gene"},{"created":"2025-07-09T04:26:16.703343+10:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chd8 has been classified as Red List (Low Evidence).","entity_name":"CHD8","entity_type":"gene"},{"created":"2025-07-09T04:26:04.954757+10:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CHD8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CHD8","entity_type":"gene"},{"created":"2025-07-09T04:23:16.196800+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2698","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: BHLHA9.","entity_name":"BHLHA9","entity_type":"gene"},{"created":"2025-07-08T23:28:43.336721+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NEXN as ready","entity_name":"NEXN","entity_type":"gene"},{"created":"2025-07-08T23:28:43.326479+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nexn has been classified as Green List (High Evidence).","entity_name":"NEXN","entity_type":"gene"},{"created":"2025-07-08T23:28:40.490778+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NEXN were changed from Cardiomyopathy, familial hypertrophic, 20,; Cardiomyopathy, dilated, 1CC to Cardiomyopathy, dilated, 2M, autosomal recessive, MIM# 621261; Cardiomyopathy, familial hypertrophic, 20,; Cardiomyopathy, dilated, 1CC","entity_name":"NEXN","entity_type":"gene"},{"created":"2025-07-08T23:28:30.830770+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.199","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NEXN 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":"NEXN","entity_type":"gene"},{"created":"2025-07-08T23:27:56.854228+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2698","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NEXN were changed from Lethal fetal cardiomyopathy; Hydrops fetalis; Cardiomyopathy, dilated 1CC - MIM#613122 to Cardiomyopathy, dilated, 2M, autosomal recessive, MIM# 621261; Cardiomyopathy, dilated 1CC - MIM#613122","entity_name":"NEXN","entity_type":"gene"},{"created":"2025-07-08T23:27:34.886768+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2697","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 2M, autosomal recessive, MIM# 621261; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NEXN","entity_type":"gene"},{"created":"2025-07-08T23:27:14.665891+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.328","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NEXN were changed from Lethal fetal cardiomyopathy; Hydrops fetalis; Cardiomyopathy, dilated 1CC - MIM#613122 to Cardiomyopathy, dilated, 2M, autosomal recessive, MIM# 621261","entity_name":"NEXN","entity_type":"gene"},{"created":"2025-07-08T23:26:48.228031+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.327","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 2M, autosomal recessive, MIM# 621261; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NEXN","entity_type":"gene"},{"created":"2025-07-08T23:26:34.734517+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.42","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NEXN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NEXN","entity_type":"gene"},{"created":"2025-07-08T23:26:11.621834+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.41","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NEXN: Changed publications: 19881492, 28416588, 25163546, 27532257, 24503780, 29540472; Changed phenotypes: Cardiomyopathy, dilated, 1CC, MIM# 613122; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NEXN","entity_type":"gene"},{"created":"2025-07-08T23:25:17.161264+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.41","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NEXN were changed from Cardiomyopathy, dilated, 1CC, MIM# 613122; Cardiomyopathy, dilated, 2M, autosomal recessive, MIM# 621261 to Cardiomyopathy, dilated, 1CC, MIM# 613122","entity_name":"NEXN","entity_type":"gene"},{"created":"2025-07-08T23:25:13.872222+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"NEXN","entity_type":"gene"},{"created":"2025-07-08T23:24:10.864025+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NEXN were changed from Cardiomyopathy, dilated, 1CC, MIM# 613122 to Cardiomyopathy, dilated, 1CC, MIM# 613122; Cardiomyopathy, dilated, 2M, autosomal recessive, MIM# 621261","entity_name":"NEXN","entity_type":"gene"},{"created":"2025-07-08T23:21:46.471608+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.39","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NEXN was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NEXN","entity_type":"gene"},{"created":"2025-07-08T23:21:23.280876+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.38","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NEXN: Added comment: 7 families reported with DCM and bi-allelic variants, several of the presentations were severe perinatal.; Changed publications: 19881492, 28416588, 25163546, 27532257, 24503780, 29540472, 26659360, 33949776, 39183344, 38059363, 35166435; Changed phenotypes: Cardiomyopathy, dilated, 1CC, MIM# 613122, Cardiomyopathy, dilated, 2M, autosomal recessive, MIM# 621261; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NEXN","entity_type":"gene"},{"created":"2025-07-08T16:59:19.946560+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2697","user_name":"Sarah Milton","item_type":"entity","text":"changed review comment from: BHLHA9 encodes a transcription factor involved in embryonic limb development, essential for interdigital apoptosis in central limb mesenchyme cells.\r\n\r\nDuplications encompassing a 11.8kb critical region involving BHLHA9 have been reported in a number of publications to result in split hand foot malformation with long bone deficiency in at least 50 affected individuals. This has segregated within families of affected individuals on a number of occasions. \r\n\r\nHowever, penetrance of approximately 50% has been noted with significant intrafamilial variability. It should also be noted that in gnomad v4 structural variants there are 15 dups encompassing this same region in het individuals with a DGV gold track demonstrating dups in 3 individuals. \r\n\r\nDuan et al 2022 (PMID: 36035248) proposed copy number gains might enhance the regulatory potential as a transcription factor; thus, the apoptosis activity may be overly or ectopically increased in central limb mesenchymal cells during limb development. Authors proposed a gene dosage change with increasing copies of BHLHA9 showing increasing penetrance using examples of individuals with homozygous duplications or heterozygous triplications.; to: BHLHA9 encodes a transcription factor involved in embryonic limb development, essential for interdigital apoptosis in central limb mesenchyme cells.\r\n\r\nDuplications encompassing a 11.8kb critical region involving BHLHA9 have been reported in a number of publications to result in split hand foot malformation with long bone deficiency in at least 50 affected individuals. This has segregated within families of affected individuals on a number of occasions. \r\n\r\nHowever, penetrance of approximately 50% has been noted with significant intrafamilial variability. It should also be noted that in gnomad v4 structural variants there are 15 dups encompassing this same region in het individuals with a DGV gold track demonstrating dups in 3 individuals. \r\n\r\nDuan et al 2022 (PMID: 36035248) proposed copy number gains might enhance the regulatory potential as a transcription factor; thus, the apoptotic activity may be overly or ectopically increased in central limb mesenchymal cells during limb development. Authors proposed a gene dosage change with increasing copies of BHLHA9 showing increasing penetrance using examples of individuals with homozygous duplications or heterozygous triplications.","entity_name":"BHLHA9","entity_type":"gene"},{"created":"2025-07-08T16:58:25.655982+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2697","user_name":"Sarah Milton","item_type":"entity","text":"changed review comment from: BHLHA9 encodes a transcription factor involved in embryonic limb development, essential for interdigital apoptosis in central limb mesenchyme cells.\r\n\r\nDuplications encompassing a 11.8kb critical region involving BHLHA9 have been reported in a number of publications to result in split hand foot malformation with long bone deficiency in at least 50 affected individuals. This has segregated in affected families on a number of occasions. \r\n\r\nHowever, penetrance of approximately 50% has been noted with significant intrafamilial variability. It should also be noted that in gnomad v4 structural variants there are 15 dups encompassing this same region in het individuals with a DGV gold track demonstrating dups in 3 individuals. \r\n\r\nDuan et al 2022 (PMID: 36035248) proposed copy number gains might enhance the regulatory potential as a transcription factor; thus, the apoptosis activity may be overly or ectopically increased in central limb mesenchymal cells during limb development. Authors proposed a gene dosage change with increasing copies of BHLHA9 showing increasing penetrance using examples of individuals with homozygous duplications or heterozygous triplications.; to: BHLHA9 encodes a transcription factor involved in embryonic limb development, essential for interdigital apoptosis in central limb mesenchyme cells.\r\n\r\nDuplications encompassing a 11.8kb critical region involving BHLHA9 have been reported in a number of publications to result in split hand foot malformation with long bone deficiency in at least 50 affected individuals. This has segregated within families of affected individuals on a number of occasions. \r\n\r\nHowever, penetrance of approximately 50% has been noted with significant intrafamilial variability. It should also be noted that in gnomad v4 structural variants there are 15 dups encompassing this same region in het individuals with a DGV gold track demonstrating dups in 3 individuals. \r\n\r\nDuan et al 2022 (PMID: 36035248) proposed copy number gains might enhance the regulatory potential as a transcription factor; thus, the apoptosis activity may be overly or ectopically increased in central limb mesenchymal cells during limb development. Authors proposed a gene dosage change with increasing copies of BHLHA9 showing increasing penetrance using examples of individuals with homozygous duplications or heterozygous triplications.","entity_name":"BHLHA9","entity_type":"gene"},{"created":"2025-07-08T16:57:07.600112+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2697","user_name":"Sarah Milton","item_type":"entity","text":"reviewed gene: BHLHA9: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 22147889, 23790188, 29970136, 31200655, 36035248, 36028842, 36551834; Phenotypes: Split-hand/foot malformation with long bone deficiency 3 MIM#612576; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"BHLHA9","entity_type":"gene"},{"created":"2025-07-08T09:32:17.267068+10:00","panel_name":"Congenital Myasthenia","panel_id":3078,"panel_version":"1.12","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: CHD8 was added\ngene: CHD8 was added to Congenital Myasthenia. Sources: Literature\nMode of inheritance for gene: CHD8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHD8 were set to 20301347; 32267004; 36835142\nPhenotypes for gene: CHD8 were set to Complex neurodevelopmental disorder\tMONDO:0100038\nReview for gene: CHD8 was set to AMBER\nAdded comment: Report of myasthenic phenotype in at least one confirmed family as per Gene Reviews. Additional pro\r\n\r\nPMID: 32267004\r\n14 female twins first children of healthy non consanguineous German parents \r\nPresented with a range of neonatal complications including respiratory distress, cardiorespiratory instability, jaundice, ptosis and muscle weakness. \r\nArg578Cys - present in gnomAD but only a singleton\r\n\r\nPMID: 36835142\r\nOther LoF variants have been reported in other pubs. Personal communication between authors state that muscle hypotonia and muscle weakness was observed in affected individuals with ID with autism and macrocephaly \nSources: Literature","entity_name":"CHD8","entity_type":"gene"},{"created":"2025-07-06T01:40:02.683587+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.188","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIGU as Amber List (moderate evidence)","entity_name":"PIGU","entity_type":"gene"},{"created":"2025-07-06T01:40:02.674536+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.188","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigu has been classified as Amber List (Moderate Evidence).","entity_name":"PIGU","entity_type":"gene"},{"created":"2025-07-06T01:39:35.971736+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.187","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIGU: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 21, OMIM #618590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGU","entity_type":"gene"},{"created":"2025-07-06T01:38:46.217284+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.165","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIGU as Amber List (moderate evidence)","entity_name":"PIGU","entity_type":"gene"},{"created":"2025-07-06T01:38:46.207236+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.165","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigu has been classified as Amber List (Moderate Evidence).","entity_name":"PIGU","entity_type":"gene"},{"created":"2025-07-06T01:38:13.021089+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.164","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PIGU: Added comment: Downgraded due to LIMITED assessment by ClinGen: only 2 variants across 5 families.; Changed rating: AMBER","entity_name":"PIGU","entity_type":"gene"},{"created":"2025-07-06T01:37:40.529349+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.67","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIGU as Amber List (moderate evidence)","entity_name":"PIGU","entity_type":"gene"},{"created":"2025-07-06T01:37:40.519424+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.67","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigu has been classified as Amber List (Moderate Evidence).","entity_name":"PIGU","entity_type":"gene"},{"created":"2025-07-06T01:37:05.355165+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.66","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PIGU: Added comment: LIMITED by ClinGen, only 2 variants across the 5 families.; Changed rating: AMBER","entity_name":"PIGU","entity_type":"gene"},{"created":"2025-07-06T01:36:29.619141+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2697","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIGU as Amber List (moderate evidence)","entity_name":"PIGU","entity_type":"gene"},{"created":"2025-07-06T01:36:29.609146+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2697","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigu has been classified as Amber List (Moderate Evidence).","entity_name":"PIGU","entity_type":"gene"},{"created":"2025-07-06T01:36:08.402090+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2696","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PIGU: Added comment: Downgrade to Amber in light of ClinGen assessment. Only 2 variants reported.; Changed rating: AMBER","entity_name":"PIGU","entity_type":"gene"},{"created":"2025-07-06T01:33:14.613333+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POLD3 as Amber List (moderate evidence)","entity_name":"POLD3","entity_type":"gene"},{"created":"2025-07-06T01:33:14.606124+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pold3 has been classified as Amber List (Moderate Evidence).","entity_name":"POLD3","entity_type":"gene"},{"created":"2025-07-06T01:32:50.368603+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: POLD3: Added comment: Downgraded from MODERATE to LIMITED by ClinGen expert review.; Changed rating: AMBER","entity_name":"POLD3","entity_type":"gene"},{"created":"2025-07-06T01:31:51.623667+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2696","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POLD3 as Amber List (moderate evidence)","entity_name":"POLD3","entity_type":"gene"},{"created":"2025-07-06T01:31:51.616641+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2696","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pold3 has been classified as Amber List (Moderate Evidence).","entity_name":"POLD3","entity_type":"gene"},{"created":"2025-07-06T01:29:38.478386+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.56","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NFE2 as ready","entity_name":"NFE2","entity_type":"gene"},{"created":"2025-07-06T01:29:38.469746+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.56","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nfe2 has been classified as Red List (Low Evidence).","entity_name":"NFE2","entity_type":"gene"},{"created":"2025-07-06T01:29:30.116089+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.56","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NFE2 was added\ngene: NFE2 was added to Bleeding and Platelet Disorders. Sources: ClinGen\nMode of inheritance for gene: NFE2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NFE2 were set to 31951293\nPhenotypes for gene: NFE2 were set to thrombocytopenia MONDO:0002049, NFE2-related\nReview for gene: NFE2 was set to RED\nAdded comment: Classified as Limited by Hemostasis Thrombosis GCEP on 16/06/2025 Homozygous frameshift variant reported in a single proband (c.952delA, p.T318fsX326 - absent in gnomAD v4.1). \nSources: ClinGen","entity_name":"NFE2","entity_type":"gene"},{"created":"2025-07-06T01:27:39.851026+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2695","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NFE2 as ready","entity_name":"NFE2","entity_type":"gene"},{"created":"2025-07-06T01:27:39.841030+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2695","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nfe2 has been classified as Red List (Low Evidence).","entity_name":"NFE2","entity_type":"gene"},{"created":"2025-07-06T01:27:28.997144+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2695","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NFE2 were changed from thrombocytopenia MONDO:0002049 to thrombocytopenia MONDO:0002049, NFE2-related","entity_name":"NFE2","entity_type":"gene"},{"created":"2025-07-06T01:26:42.375307+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2694","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NFE2 as Red List (low evidence)","entity_name":"NFE2","entity_type":"gene"},{"created":"2025-07-06T01:26:42.365670+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2694","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nfe2 has been classified as Red List (Low Evidence).","entity_name":"NFE2","entity_type":"gene"},{"created":"2025-07-05T19:51:38.266539+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.187","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: FAAH2: DISPUTED by ClinGen","entity_name":"FAAH2","entity_type":"gene"},{"created":"2025-07-05T19:51:14.383533+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.187","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: FAAH2.","entity_name":"FAAH2","entity_type":"gene"},{"created":"2025-07-05T19:50:47.078992+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2693","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: FAAH2.","entity_name":"FAAH2","entity_type":"gene"},{"created":"2025-07-05T08:30:21.680040+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2693","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: FAAH2: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008804; Phenotypes: X-linked complex neurodevelopmental disorder MONDO:0100148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"FAAH2","entity_type":"gene"},{"created":"2025-07-05T08:26:23.687764+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2693","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: NFE2 was added\ngene: NFE2 was added to Mendeliome. Sources: ClinGen\nMode of inheritance for gene: NFE2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NFE2 were set to 31951293\nPhenotypes for gene: NFE2 were set to thrombocytopenia MONDO:0002049\nReview for gene: NFE2 was set to RED\nAdded comment: Classified as Limited by Hemostasis Thrombosis GCEP on 16/06/2025\r\n\r\nHomozygous frameshift variant reported in a single proband (c.952delA, p.T318fsX326 - absent in gnomAD v4.1). \nSources: ClinGen","entity_name":"NFE2","entity_type":"gene"},{"created":"2025-07-05T08:17:52.045636+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2693","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: SLFN14: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:006205; Phenotypes: platelet-type bleeding disorder 20 MONDO:0014830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SLFN14","entity_type":"gene"},{"created":"2025-07-05T08:11:16.182262+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2693","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: ERLIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: hereditary spastic paraplegia 18 MONDO:0012639; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ERLIN2","entity_type":"gene"},{"created":"2025-07-05T08:06:29.604481+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2693","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: POLD3: Rating: AMBER; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008872; Phenotypes: immunodeficiency 122 MONDO:0971151; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"POLD3","entity_type":"gene"},{"created":"2025-07-05T07:53:12.197561+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2693","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: PIGU: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005799; Phenotypes: glycosylphosphatidylinositol biosynthesis defect 21 MONDO:0032824; Mode of inheritance: None","entity_name":"PIGU","entity_type":"gene"},{"created":"2025-07-05T04:08:06.059600+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.378","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FAAP100 were changed from Fanconi anaemia, MONDO:0019391, FAAP100-related to Fanconi anaemia, complementation group X, MIM# 621258","entity_name":"FAAP100","entity_type":"gene"},{"created":"2025-07-05T04:07:50.686667+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.377","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FAAP100: Changed phenotypes: Fanconi anaemia, complementation group X, MIM# 621258","entity_name":"FAAP100","entity_type":"gene"},{"created":"2025-07-05T04:07:30.103025+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"1.19","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FAAP100 were changed from Fanconi anaemia, MONDO:0019391, FAAP100-related to Fanconi anaemia, complementation group X, MIM# 621258","entity_name":"FAAP100","entity_type":"gene"},{"created":"2025-07-05T04:07:04.287571+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FAAP100: Changed phenotypes: Fanconi anaemia, complementation group X, MIM# 621258","entity_name":"FAAP100","entity_type":"gene"},{"created":"2025-07-05T04:06:35.958249+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2693","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FAAP100 were changed from Fanconi anaemia, MONDO:0019391, FAAP100-related to Fanconi anaemia, complementation group X, MIM# 621258","entity_name":"FAAP100","entity_type":"gene"},{"created":"2025-07-05T04:04:52.225627+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2692","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FAAP100: Changed phenotypes: Fanconi anaemia, complementation group X, MIM# 621258","entity_name":"FAAP100","entity_type":"gene"},{"created":"2025-07-05T04:04:26.951619+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.119","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FAAP100 were changed from Fanconi anaemia, MONDO:0019391, FAAP100-related to Fanconi anemia, complementation group X, MIM# 621258","entity_name":"FAAP100","entity_type":"gene"},{"created":"2025-07-05T04:03:58.452816+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.118","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FAAP100: Changed phenotypes: Fanconi anemia, complementation group X, MIM# 621258","entity_name":"FAAP100","entity_type":"gene"},{"created":"2025-07-05T04:02:44.198606+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.187","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM63B were changed from developmental and epileptic encephalopathy, MONDO:0100062, TMEM63B-related to Developmental and epileptic encephalopathy 118, MIM# 621250","entity_name":"TMEM63B","entity_type":"gene"},{"created":"2025-07-05T04:02:14.221245+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.186","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TMEM63B: Changed phenotypes: Developmental and epileptic encephalopathy 118, MIM# 621250","entity_name":"TMEM63B","entity_type":"gene"},{"created":"2025-07-05T04:01:51.038625+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.164","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM63B were changed from developmental and epileptic encephalopathy, MONDO:0100062, TMEM63B-related to Developmental and epileptic encephalopathy 118, MIM# 621250","entity_name":"TMEM63B","entity_type":"gene"},{"created":"2025-07-05T04:01:16.954037+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.163","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TMEM63B: Changed phenotypes: Developmental and epileptic encephalopathy 118, MIM# 621250","entity_name":"TMEM63B","entity_type":"gene"},{"created":"2025-07-05T04:00:37.019239+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2692","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM63B were changed from developmental and epileptic encephalopathy, MONDO:0100062, TMEM63B-related to Developmental and epileptic encephalopathy 118, MIM#621250","entity_name":"TMEM63B","entity_type":"gene"},{"created":"2025-07-04T22:43:54.839643+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.186","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: LGI1 as Green List (high evidence)","entity_name":"LGI1","entity_type":"gene"},{"created":"2025-07-04T22:43:54.830429+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.186","user_name":"Krithika Murali","item_type":"entity","text":"Gene: lgi1 has been classified as Green List (High Evidence).","entity_name":"LGI1","entity_type":"gene"},{"created":"2025-07-04T22:43:47.029834+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.185","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: LGI1 as ready","entity_name":"LGI1","entity_type":"gene"},{"created":"2025-07-04T22:43:47.022297+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.185","user_name":"Krithika Murali","item_type":"entity","text":"Gene: lgi1 has been classified as Red List (Low Evidence).","entity_name":"LGI1","entity_type":"gene"},{"created":"2025-07-04T22:43:15.345412+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.93","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: LGI1 as Green List (high evidence)","entity_name":"LGI1","entity_type":"gene"},{"created":"2025-07-04T22:43:15.338991+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.93","user_name":"Krithika Murali","item_type":"entity","text":"Gene: lgi1 has been classified as Green List (High Evidence).","entity_name":"LGI1","entity_type":"gene"}]}