{"count":220504,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=102","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=100","results":[{"created":"2025-12-05T11:32:11.099649+11:00","panel_name":"Stroke","panel_id":3141,"panel_version":"1.36","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MT-ND4 as ready","entity_name":"MT-ND4","entity_type":"gene"},{"created":"2025-12-05T11:32:11.092643+11:00","panel_name":"Stroke","panel_id":3141,"panel_version":"1.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mt-nd4 has been classified as Green List (High Evidence).","entity_name":"MT-ND4","entity_type":"gene"},{"created":"2025-12-05T11:31:54.567435+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.43","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MT-ND4 as ready","entity_name":"MT-ND4","entity_type":"gene"},{"created":"2025-12-05T11:31:54.560199+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.43","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mt-nd4 has been classified as Green List (High Evidence).","entity_name":"MT-ND4","entity_type":"gene"},{"created":"2025-12-05T11:31:42.170064+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.334","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MT-ND4 as ready","entity_name":"MT-ND4","entity_type":"gene"},{"created":"2025-12-05T11:31:42.157345+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.334","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mt-nd4 has been classified as Green List (High Evidence).","entity_name":"MT-ND4","entity_type":"gene"},{"created":"2025-12-05T11:31:30.618972+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.153","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MT-ND4 as ready","entity_name":"MT-ND4","entity_type":"gene"},{"created":"2025-12-05T11:31:30.608468+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.153","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mt-nd4 has been classified as Green List (High Evidence).","entity_name":"MT-ND4","entity_type":"gene"},{"created":"2025-12-05T11:31:19.323214+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.477","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MT-ND4 as ready","entity_name":"MT-ND4","entity_type":"gene"},{"created":"2025-12-05T11:31:19.315967+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.477","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mt-nd4 has been classified as Green List (High Evidence).","entity_name":"MT-ND4","entity_type":"gene"},{"created":"2025-12-05T11:31:07.127577+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.600","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MT-ND4 as ready","entity_name":"MT-ND4","entity_type":"gene"},{"created":"2025-12-05T11:31:07.116584+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.600","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mt-nd4 has been classified as Green List (High Evidence).","entity_name":"MT-ND4","entity_type":"gene"},{"created":"2025-12-05T11:30:45.781614+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.302","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MT-ND4 as ready","entity_name":"MT-ND4","entity_type":"gene"},{"created":"2025-12-05T11:30:45.773757+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.302","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mt-nd4 has been classified as Green List (High Evidence).","entity_name":"MT-ND4","entity_type":"gene"},{"created":"2025-12-05T11:30:36.710643+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.59","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MT-ND4 as ready","entity_name":"MT-ND4","entity_type":"gene"},{"created":"2025-12-05T11:30:36.700769+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.59","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mt-nd4 has been classified as Green List (High Evidence).","entity_name":"MT-ND4","entity_type":"gene"},{"created":"2025-12-05T11:29:38.936644+11:00","panel_name":"Stroke","panel_id":3141,"panel_version":"1.36","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene MT-ND4 from panel Mitochondrial disease","entity_name":null,"entity_type":null},{"created":"2025-12-05T11:29:38.869730+11:00","panel_name":"Stroke","panel_id":3141,"panel_version":"1.36","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MT-ND4 was added\ngene: MT-ND4 was added to Stroke. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-ND4.\nMode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL\nPublications for gene: MT-ND4 were set to 12707444; 16120329; 15576045; 20502985; 27761019; 32445240; 32659360; 3201231\nPhenotypes for gene: MT-ND4 were set to Mitochondrial disease (MONDO:0044970), MT-ND4-related","entity_name":"MT-ND4","entity_type":"gene"},{"created":"2025-12-05T11:29:38.672041+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.600","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene MT-ND4 from panel Mitochondrial disease","entity_name":null,"entity_type":null},{"created":"2025-12-05T11:29:38.364533+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.600","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MT-ND4 was added\ngene: MT-ND4 was added to Regression. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-ND4.\nMode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL\nPublications for gene: MT-ND4 were set to 12707444; 16120329; 15576045; 20502985; 27761019; 32445240; 32659360; 3201231\nPhenotypes for gene: MT-ND4 were set to Mitochondrial disease (MONDO:0044970), MT-ND4-related","entity_name":"MT-ND4","entity_type":"gene"},{"created":"2025-12-05T11:29:00.321278+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.59","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene MT-ND4 from panel Mitochondrial disease","entity_name":null,"entity_type":null},{"created":"2025-12-05T11:28:59.972356+11:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"1.59","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MT-ND4 was added\ngene: MT-ND4 was added to Optic Atrophy. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-ND4.\nMode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL\nPublications for gene: MT-ND4 were set to 12707444; 16120329; 15576045; 20502985; 27761019; 32445240; 32659360; 3201231\nPhenotypes for gene: MT-ND4 were set to Mitochondrial disease (MONDO:0044970), MT-ND4-related","entity_name":"MT-ND4","entity_type":"gene"},{"created":"2025-12-05T11:28:22.792407+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.334","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene MT-ND4 from panel Mitochondrial disease","entity_name":null,"entity_type":null},{"created":"2025-12-05T11:28:22.638640+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.334","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MT-ND4 was added\ngene: MT-ND4 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-ND4.\nMode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL\nPublications for gene: MT-ND4 were set to 12707444; 16120329; 15576045; 20502985; 27761019; 32445240; 32659360; 3201231\nPhenotypes for gene: MT-ND4 were set to Mitochondrial disease (MONDO:0044970), MT-ND4-related","entity_name":"MT-ND4","entity_type":"gene"},{"created":"2025-12-05T11:28:09.695971+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.477","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene MT-ND4 from panel Mitochondrial disease","entity_name":null,"entity_type":null},{"created":"2025-12-05T11:28:09.301496+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.477","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MT-ND4 was added\ngene: MT-ND4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-ND4.\nMode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL\nPublications for gene: MT-ND4 were set to 12707444; 16120329; 15576045; 20502985; 27761019; 32445240; 32659360; 3201231\nPhenotypes for gene: MT-ND4 were set to Mitochondrial disease (MONDO:0044970), MT-ND4-related","entity_name":"MT-ND4","entity_type":"gene"},{"created":"2025-12-05T11:26:57.927134+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.43","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene MT-ND4 from panel Mitochondrial disease","entity_name":null,"entity_type":null},{"created":"2025-12-05T11:26:57.427948+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.43","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MT-ND4 was added\ngene: MT-ND4 was added to Hereditary Neuropathy - complex. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-ND4.\nMode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL\nPublications for gene: MT-ND4 were set to 12707444; 16120329; 15576045; 20502985; 27761019; 32445240; 32659360; 3201231\nPhenotypes for gene: MT-ND4 were set to Mitochondrial disease (MONDO:0044970), MT-ND4-related","entity_name":"MT-ND4","entity_type":"gene"},{"created":"2025-12-05T11:26:36.795773+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.302","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene MT-ND4 from panel Mitochondrial disease","entity_name":null,"entity_type":null},{"created":"2025-12-05T11:26:36.355473+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.302","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MT-ND4 was added\ngene: MT-ND4 was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-ND4.\nMode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL\nPublications for gene: MT-ND4 were set to 12707444; 16120329; 15576045; 20502985; 27761019; 32445240; 32659360; 3201231\nPhenotypes for gene: MT-ND4 were set to Mitochondrial disease (MONDO:0044970), MT-ND4-related","entity_name":"MT-ND4","entity_type":"gene"},{"created":"2025-12-05T11:25:46.523064+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.153","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene MT-ND4 from panel Mitochondrial disease","entity_name":null,"entity_type":null},{"created":"2025-12-05T11:25:46.318287+11:00","panel_name":"Ataxia","panel_id":271,"panel_version":"1.153","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MT-ND4 was added\ngene: MT-ND4 was added to Ataxia. Sources: Expert Review Green,Expert list\nmtDNA tags were added to gene: MT-ND4.\nMode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL\nPublications for gene: MT-ND4 were set to 12707444; 16120329; 15576045; 20502985; 27761019; 32445240; 32659360; 3201231\nPhenotypes for gene: MT-ND4 were set to Mitochondrial disease (MONDO:0044970), MT-ND4-related","entity_name":"MT-ND4","entity_type":"gene"},{"created":"2025-12-05T10:27:26.753387+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3741","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FGD5 as ready","entity_name":"FGD5","entity_type":"gene"},{"created":"2025-12-05T10:27:26.746352+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3741","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fgd5 has been classified as Red List (Low Evidence).","entity_name":"FGD5","entity_type":"gene"},{"created":"2025-12-05T10:27:15.771961+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.506","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FGD5 as ready","entity_name":"FGD5","entity_type":"gene"},{"created":"2025-12-05T10:27:15.761580+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.506","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fgd5 has been classified as Red List (Low Evidence).","entity_name":"FGD5","entity_type":"gene"},{"created":"2025-12-05T07:09:41.030713+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.27","user_name":"Thomas Minten","item_type":"entity","text":"changed review comment from: On RUSP website CYP21A2 specifically mentioned as causative gene \r\nClinGen: haploinsufficiency score of 30, high level of evidence\r\nPrevalence SW-CAH and SV-CAH: 1:11,000-1:14,000\r\nDisease pathway: enzyme 21-hydroxylase produces cortisol and aldosterone -> important for hormone balance\r\nPresentation in neonatal onset, childhood: poor feeding, vomiting, weight loss or failure to thrive, excessive sleepiness or lethargy, irritability, and diarrhea. In females, ambiguous genitalia\r\nTreatment: Lifelong glucocorticoid replacement therapy (such as hydrocortisone)\r\n\r\nInheritance:  biallelic (recessive), autosomal or pseudoautosomal\r\nCurrent screening method for CAH: \r\nFirst tier: 17‑hydroxyprogesterone (17‑OHP)\r\nSecond tier: steroid profiling/CYP21A2 genotyping\r\n\r\nIncluded (in 2024) in 16/27 gNBS programs, ranks 130 out of 4390\r\nIncluded in BabyDetect, BabyScreen+,Generation, Beginnings, Puglia, Screen4Care, Nurture,…\r\nNot in Guardian, EarlyCheck Chen et al and several commercial panels\r\n\r\nProblem: Standard WGS methodologies face challenges in accurately detecting CYP21A2 variants because of this homology and population complexity. Therefore, by most programs is only used in conjunction with 17-OHP levels. \nSources: Other; to: Gene causes adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency\r\nClinGen: haploinsufficiency score of 30, high level of evidence\r\nPrevalence SW-CAH and SV-CAH: 1:11,000-1:14,000\r\nDisease pathway: gene important for production of enzyme 21-hydroxylase, which in turn produces cortisol and aldosterone which is important for hormone balance\r\nPresentation in neonatal onset, childhood: poor feeding, vomiting, weight loss or failure to thrive, excessive sleepiness or lethargy, irritability, and diarrhea. In females, ambiguous genitalia.\r\nTreatment: Lifelong glucocorticoid replacement therapy (such as hydrocortisone)\r\nInheritance:  biallelic (recessive), autosomal or pseudoautosomal\r\n\r\nCurrent biochemical screening method for CAH is performed in most countries: \r\nFirst tier: 17‑hydroxyprogesterone (17‑OHP)\r\nSecond tier: steroid profiling/CYP21A2 genotyping\r\n\r\nHigh genotype phenotype correlation as discussed in PMID 23359698\r\n\r\nIncluded (in 2024) in 16/27 gNBS programs, ranks 130 out of 4390\r\nIncluded in BabyDetect, BabyScreen+,Generation, Beginnings, Puglia, Screen4Care, Nurture,…\r\nNot in Guardian, EarlyCheck, Chen et al. and several commercial panels\r\n\r\nProblem: Standard WGS methodologies face challenges in accurately detecting CYP21A2 variants because of homology and population complexity. Therefore, by most gNBS programs the results in this gene are only used in conjunction with 17-OHP levels. \r\nSources: Other","entity_name":"CYP21A2","entity_type":"gene"},{"created":"2025-12-05T07:06:52.331505+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.27","user_name":"Thomas Minten","item_type":"entity","text":"gene: CYP21A2 was added\ngene: CYP21A2 was added to Genomic newborn screening: ICoNS. Sources: Other\nMode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP21A2 were set to CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency\nMode of pathogenicity for gene: CYP21A2 was set to Other\nReview for gene: CYP21A2 was set to GREEN\nAdded comment: On RUSP website CYP21A2 specifically mentioned as causative gene \r\nClinGen: haploinsufficiency score of 30, high level of evidence\r\nPrevalence SW-CAH and SV-CAH: 1:11,000-1:14,000\r\nDisease pathway: enzyme 21-hydroxylase produces cortisol and aldosterone -> important for hormone balance\r\nPresentation in neonatal onset, childhood: poor feeding, vomiting, weight loss or failure to thrive, excessive sleepiness or lethargy, irritability, and diarrhea. In females, ambiguous genitalia\r\nTreatment: Lifelong glucocorticoid replacement therapy (such as hydrocortisone)\r\n\r\nInheritance:  biallelic (recessive), autosomal or pseudoautosomal\r\nCurrent screening method for CAH: \r\nFirst tier: 17‑hydroxyprogesterone (17‑OHP)\r\nSecond tier: steroid profiling/CYP21A2 genotyping\r\n\r\nIncluded (in 2024) in 16/27 gNBS programs, ranks 130 out of 4390\r\nIncluded in BabyDetect, BabyScreen+,Generation, Beginnings, Puglia, Screen4Care, Nurture,…\r\nNot in Guardian, EarlyCheck Chen et al and several commercial panels\r\n\r\nProblem: Standard WGS methodologies face challenges in accurately detecting CYP21A2 variants because of this homology and population complexity. Therefore, by most programs is only used in conjunction with 17-OHP levels. \nSources: Other","entity_name":"CYP21A2","entity_type":"gene"},{"created":"2025-12-05T06:50:47.210612+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LHX3 as ready","entity_name":"LHX3","entity_type":"gene"},{"created":"2025-12-05T06:50:47.200704+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lhx3 has been classified as Green List (High Evidence).","entity_name":"LHX3","entity_type":"gene"},{"created":"2025-12-05T06:50:44.778267+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LHX3 were changed from  to Pituitary hormone deficiency, combined, 3 (MIM#221750)","entity_name":"LHX3","entity_type":"gene"},{"created":"2025-12-05T06:50:26.465780+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LHX3 as Green List (high evidence)","entity_name":"LHX3","entity_type":"gene"},{"created":"2025-12-05T06:50:26.451907+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lhx3 has been classified as Green List (High Evidence).","entity_name":"LHX3","entity_type":"gene"},{"created":"2025-12-05T06:50:15.389031+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"LHX3","entity_type":"gene"},{"created":"2025-12-05T06:47:10.108073+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GALK1 as ready","entity_name":"GALK1","entity_type":"gene"},{"created":"2025-12-05T06:47:10.100114+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: galk1 has been classified as Green List (High Evidence).","entity_name":"GALK1","entity_type":"gene"},{"created":"2025-12-05T06:47:07.373602+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GALK1 were changed from very early-onset cataract to Galactokinase deficiency with cataracts MIM#230200","entity_name":"GALK1","entity_type":"gene"},{"created":"2025-12-05T06:46:46.650666+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GALK1 were set to ","entity_name":"GALK1","entity_type":"gene"},{"created":"2025-12-05T06:46:38.451259+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GALK1 as Green List (high evidence)","entity_name":"GALK1","entity_type":"gene"},{"created":"2025-12-05T06:46:38.436805+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: galk1 has been classified as Green List (High Evidence).","entity_name":"GALK1","entity_type":"gene"},{"created":"2025-12-05T06:46:14.150793+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GALK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"GALK1","entity_type":"gene"},{"created":"2025-12-05T06:45:12.716756+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: F9 as ready","entity_name":"F9","entity_type":"gene"},{"created":"2025-12-05T06:45:12.706064+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: f9 has been classified as Green List (High Evidence).","entity_name":"F9","entity_type":"gene"},{"created":"2025-12-05T06:45:10.635973+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: F9 were changed from Hemophilia B to Haemophilia B, MIM# 306900","entity_name":"F9","entity_type":"gene"},{"created":"2025-12-05T06:44:23.340482+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: F9 were set to ","entity_name":"F9","entity_type":"gene"},{"created":"2025-12-05T06:44:12.322328+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: F9 as Green List (high evidence)","entity_name":"F9","entity_type":"gene"},{"created":"2025-12-05T06:44:12.315387+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: f9 has been classified as Green List (High Evidence).","entity_name":"F9","entity_type":"gene"},{"created":"2025-12-05T06:43:56.460687+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYH7 as ready","entity_name":"MYH7","entity_type":"gene"},{"created":"2025-12-05T06:43:56.444771+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myh7 has been classified as Amber List (Moderate Evidence).","entity_name":"MYH7","entity_type":"gene"},{"created":"2025-12-05T06:43:51.770068+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MYH7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MYH7","entity_type":"gene"},{"created":"2025-12-05T06:43:32.527305+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MYH7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MYH7","entity_type":"gene"},{"created":"2025-12-05T06:43:25.153710+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYH7 as Amber List (moderate evidence)","entity_name":"MYH7","entity_type":"gene"},{"created":"2025-12-05T06:43:25.125852+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myh7 has been classified as Amber List (Moderate Evidence).","entity_name":"MYH7","entity_type":"gene"},{"created":"2025-12-05T06:43:15.832024+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MYH7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"MYH7","entity_type":"gene"},{"created":"2025-12-05T06:30:00.929488+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: F9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"F9","entity_type":"gene"},{"created":"2025-12-05T06:28:25.885168+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.16","user_name":"François BOEMER","item_type":"entity","text":"changed review comment from: Development of cataracts is fully preventable if diagnosis is made early and a galactose-restricted diet is implemented and strictly followed. \r\nDisorder is included in the RUSP as a secondary condition. NBS could be performed by gNBS, or by quantifying total Galactose on DBS. Urinary galactitol is elevated in a majority of neonate patients.\r\nGALK1 is curated by ClinGen. Only SNPs variants are described in Clinvar, mainly in the coding or intronic-boundaries regions\r\n; to: Development of cataracts is fully preventable if diagnosis is made early and a galactose-restricted diet is implemented and strictly followed. \r\nDisorder is included in the RUSP as a secondary condition. NBS could be performed by gNBS, or by quantifying total Galactose on DBS. Urinary galactitol is elevated in a majority of neonate patients.\r\nGALK1 is curated by ClinGen. Only SNPs variants (> 500) are described in Clinvar, mainly in the coding or intronic-boundaries regions\r\n","entity_name":"GALK1","entity_type":"gene"},{"created":"2025-12-05T06:26:48.869600+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.16","user_name":"Jorune Balciuniene","item_type":"entity","text":"changed review comment from: Well established gene-disease association. \r\nMechanism: hemizygous loss of function variants in males, but heterozygous females may present with mild clinical symptoms due to nonrandom  X-inactivation. \r\nIncidence: 1 per 25-30K males births with >40 % having severe disease.\r\nClinical disease types:\r\nSevere hemophilia B: < 1% normal FIX level. Usually diagnosed during the first two years of life. Characterized by spontaneous bleedings if not treated.  \r\nModerate hemophilia B: 1-5% normal FIX levels. Prolonged bleeding after trauma, diagnosed before the age of 5. \r\nMild hemophilia B: 5- 40% normal FIX levels. Typically, no spontaneous bleedings, not diagnosed until later in life.\r\nPathogenic variants:\r\n>1300 pathogenic variants, mostly point mutations, but also partial and full gene deletions.  \r\n Medical management informing pathogenic variants\r\n•\tComplete gene deletions or major rearrangements are associated with severe anaphylactic reactions upon FIX replacement therapy. High risk for developing FIX inhibitors (> 50 %). \r\n•\tPoint mutations in promoter region (5'UTR) associated with Hemophilia B Leyden, characterized by developmental expression of FIX post puberty. At childhood, FIX levels are <1%, and  increase with growth reaching up to 70% of normal levels. Anabolic steroids can help raise FIX levels.\r\n•\tMissense variants in the FIX propeptide sequence causing reduced affinity to vitamin- dependent carboxylase. These individuals have normal levels of FIX, but develop unexpected reduction of FIX upon administration of vitamin K antagonists (e.g. warfarin)\r\nTreatment:\r\n•\tFactor replacement therapy: Prophylaxis and early treatment\r\n•\tNon-factor therapies: available for patients >12 y of age. \r\n•\tAdeno-associated virus  gene therapy: for adult males with <2% of FIX levels\r\n•\tSurveillance and Supportive care\r\n\r\nPMIDs: 16643212, 25851415, 3286010, 3416069, 35269902\r\nhttps://www.cdc.gov/hemophilia/mutation-project/index.html; to: Well established gene-disease association. \r\nMechanism: hemizygous loss of function variants in males, but heterozygous females may present with mild clinical symptoms due to nonrandom  X-inactivation. \r\nIncidence: 1 per 25-30K males births with >40 % having severe disease.\r\nClinical disease types:\r\nSevere hemophilia B: < 1% normal FIX level. Usually diagnosed during the first two years of life. Characterized by spontaneous bleedings if not treated.  \r\nModerate hemophilia B: 1-5% normal FIX levels. Prolonged bleeding after trauma, diagnosed before the age of 5. \r\nMild hemophilia B: 5- 40% normal FIX levels. Typically, no spontaneous bleedings, not diagnosed until later in life.\r\nPathogenic variants:\r\n>1300 pathogenic variants, mostly point mutations, but also partial and full gene deletions.  \r\n Medical management informing pathogenic variants\r\n•\tComplete gene deletions or major rearrangements are associated with severe anaphylactic reactions upon FIX replacement therapy. High risk for developing FIX inhibitors (> 50 %). \r\n•\tPoint mutations in promoter region (5'UTR) associated with Hemophilia B Leyden, characterized by developmental expression of FIX post puberty. At childhood, FIX levels are <1%, and  increase with growth reaching up to 70% of normal levels. Anabolic steroids can help raise FIX levels.\r\n•\tMissense variants in the FIX propeptide sequence causing reduced affinity to vitamin-K dependent carboxylase. These individuals have normal levels of FIX, but develop unexpected reduction of FIX upon administration of vitamin K antagonists (e.g. warfarin)\r\nTreatment:\r\n•\tFactor replacement therapy: Prophylaxis and early treatment\r\n•\tNon-factor therapies: available for patients >12 y of age. \r\n•\tAdeno-associated virus  gene therapy: for adult males with <2% of FIX levels\r\n•\tSurveillance and Supportive care\r\n\r\nPMIDs: 16643212, 25851415, 3286010, 3416069, 35269902\r\nhttps://www.cdc.gov/hemophilia/mutation-project/index.html","entity_name":"F9","entity_type":"gene"},{"created":"2025-12-04T20:58:50.793573+11:00","panel_name":"Genomic newborn screening: ICoNS","panel_id":4456,"panel_version":"0.16","user_name":"José Manuel González de Aledo Castillo","item_type":"entity","text":"gene: LHX3 was added\ngene: LHX3 was added to Genomic newborn screening: ICoNS. Sources: Literature\nMode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal\nAdded comment: LHX3 – Well-established gene–disease association\r\n\r\nNot yet scored by ClinGen, definitive in GenCC for non-acquired Combined Pituitary Hormone Deficiency type 3 (CPHD3).\r\n\r\nAR CPHD3 is characterized by multiple anterior pituitary hormone deficiencies, including growth hormone, TSH, LH/FSH, prolactin, and variably ACTH. Affected individuals often have restricted neck mobility due to cervical spine anomalies and sensorineural hearing loss. CPHD3 can be severe and potentially life-threatening in infancy, due to recurrent hypoglycemia, prolonged jaundice, and metabolic instability.\r\n\r\nTypical presentation is from the newborn period through early infancy, though some patients are diagnosed later in childhood due to growth failure or pubertal delay.\r\n\r\nThe vast majority of clinically confirmed CPHD3 cases carry biallelic pathogenic variants in LHX3, primarily loss-of-function or homeodomain-disrupting missense variants. Recurrent pathogenic variants such as T194R, W224Ter, C74 and V205L have been reported.\r\n\r\nTreatment: Lifelong hormone replacement tailored to specific deficiencies (levothyroxine, growth hormone, hydrocortisone when needed, and sex steroids during adolescence). Management also includes audiologic support and evaluation of cervical spine stability. \r\n\r\nNon-genetic confirmatory tests available: Pituitary hormone profile (GH, TSH, PRL, LH/FSH, with surveillance for evolving ACTH deficiency), pituitary MRI showing anterior pituitary hypoplasia, audiology testing, and cervical spine imaging.\r\n\r\nConventional newborn screening: indirect through CH screening (universal)\r\n\r\nGenomic newborn screening: included in BabyScreen+, Babyseq, BeginNGS, FirstSteps, Generation Study, NewbornsinSA, Puglia. \nSources: Literature","entity_name":"LHX3","entity_type":"gene"},{"created":"2025-12-04T17:54:57.375712+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.102","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene: TBC1D32 were set to 32573025; 32060556","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-12-04T17:54:19.130793+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.101","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: TBC1D32: Rating: GREEN; Mode of pathogenicity: None; Publications: 24285566, 32573025, 32060556, 31130284, 36826837, 40319332; Phenotypes: Orofacial digital syndrome type IX, MIM#258865; Mode of inheritance: None","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-12-04T17:52:27.495970+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.101","user_name":"Chirag Patel","item_type":"panel","text":"Added reviews for gene TBC1D32 from panel Intellectual disability syndromic and non-syndromic","entity_name":null,"entity_type":null},{"created":"2025-12-04T17:50:25.772558+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3741","user_name":"Chirag Patel","item_type":"panel","text":"Added reviews for gene ARNT2 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-12-04T17:50:03.366448+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.100","user_name":"Chirag Patel","item_type":"panel","text":"Added reviews for gene ARNT2 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-12-04T17:49:41.918581+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.99","user_name":"Chirag Patel","item_type":"entity","text":"Publications for gene: ARNT2 were set to 24022475","entity_name":"ARNT2","entity_type":"gene"},{"created":"2025-12-04T17:48:58.568548+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.98","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: ARNT2 were changed from ?Webb-Dattani syndrome (615926) to Webb-Dattani syndrome 615926","entity_name":"ARNT2","entity_type":"gene"},{"created":"2025-12-04T17:48:36.617486+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.97","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ARNT2 as Amber List (moderate evidence)","entity_name":"ARNT2","entity_type":"gene"},{"created":"2025-12-04T17:48:36.598496+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.97","user_name":"Chirag Patel","item_type":"entity","text":"Gene: arnt2 has been classified as Amber List (Moderate Evidence).","entity_name":"ARNT2","entity_type":"gene"},{"created":"2025-12-04T17:48:28.286657+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.96","user_name":"Chirag Patel","item_type":"panel","text":"Added reviews for gene ARNT2 from panel Intellectual disability syndromic and non-syndromic","entity_name":null,"entity_type":null},{"created":"2025-12-04T17:45:22.069130+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.95","user_name":"Chirag Patel","item_type":"panel","text":"Added reviews for gene TBC1D32 from panel Intellectual disability syndromic and non-syndromic","entity_name":null,"entity_type":null},{"created":"2025-12-04T17:44:28.172675+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.94","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: TBC1D32 as Green List (high evidence)","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-12-04T17:44:28.165567+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.94","user_name":"Chirag Patel","item_type":"entity","text":"Gene: tbc1d32 has been classified as Green List (High Evidence).","entity_name":"TBC1D32","entity_type":"gene"},{"created":"2025-12-04T17:44:03.193393+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.93","user_name":"Chirag Patel","item_type":"panel","text":"Added reviews for gene TBC1D32 from panel Intellectual disability syndromic and non-syndromic","entity_name":null,"entity_type":null},{"created":"2025-12-04T17:30:25.565124+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.478","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ESRP2 as Amber List (moderate evidence)","entity_name":"ESRP2","entity_type":"gene"},{"created":"2025-12-04T17:30:25.555595+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.478","user_name":"Chirag Patel","item_type":"entity","text":"Gene: esrp2 has been classified as Amber List (Moderate Evidence).","entity_name":"ESRP2","entity_type":"gene"},{"created":"2025-12-04T17:30:12.799305+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3740","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ESRP2 as Amber List (moderate evidence)","entity_name":"ESRP2","entity_type":"gene"},{"created":"2025-12-04T17:30:12.790192+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3740","user_name":"Chirag Patel","item_type":"entity","text":"Gene: esrp2 has been classified as Amber List (Moderate Evidence).","entity_name":"ESRP2","entity_type":"gene"},{"created":"2025-12-04T17:30:09.889391+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3740","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ESRP2 as Amber List (moderate evidence)","entity_name":"ESRP2","entity_type":"gene"},{"created":"2025-12-04T17:30:09.879377+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3740","user_name":"Chirag Patel","item_type":"entity","text":"Gene: esrp2 has been classified as Amber List (Moderate Evidence).","entity_name":"ESRP2","entity_type":"gene"},{"created":"2025-12-04T17:29:41.461906+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.292","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ESRP2 as Amber List (moderate evidence)","entity_name":"ESRP2","entity_type":"gene"},{"created":"2025-12-04T17:29:41.451101+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.292","user_name":"Chirag Patel","item_type":"entity","text":"Gene: esrp2 has been classified as Amber List (Moderate Evidence).","entity_name":"ESRP2","entity_type":"gene"},{"created":"2025-12-04T17:29:17.165015+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.92","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ESRP2 as Amber List (moderate evidence)","entity_name":"ESRP2","entity_type":"gene"},{"created":"2025-12-04T17:29:17.154817+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.92","user_name":"Chirag Patel","item_type":"entity","text":"Gene: esrp2 has been classified as Amber List (Moderate Evidence).","entity_name":"ESRP2","entity_type":"gene"},{"created":"2025-12-04T17:24:39.896789+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.291","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: RAX as ready","entity_name":"RAX","entity_type":"gene"},{"created":"2025-12-04T17:24:39.890124+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.291","user_name":"Chirag Patel","item_type":"entity","text":"Gene: rax has been classified as Amber List (Moderate Evidence).","entity_name":"RAX","entity_type":"gene"},{"created":"2025-12-04T17:24:31.660191+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.291","user_name":"Chirag Patel","item_type":"entity","text":"commented on gene: RAX: Established association with bilateral microphthalmia or anophthalmia. \r\n\r\n2 cases reported with bilateral cleft lip. \r\n\r\nRAX is a paired-type homeoprotein that plays a critical role in eye and forebrain development of vertebrate species. RAX knockout mice have anophthalmia, cleft palate, and an abnormal hypothalamus and display perinatal lethality","entity_name":"RAX","entity_type":"gene"},{"created":"2025-12-04T17:23:55.213461+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.291","user_name":"Chirag Patel","item_type":"entity","text":"Deleted their comment","entity_name":"RAX","entity_type":"gene"},{"created":"2025-12-04T17:23:41.292740+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.291","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene RAX from panel Pituitary hormone deficiency","entity_name":null,"entity_type":null},{"created":"2025-12-04T17:23:41.216418+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.291","user_name":"Chirag Patel","item_type":"entity","text":"gene: RAX was added\ngene: RAX was added to Clefting disorders. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAX were set to 30811539, 40321348\nPhenotypes for gene: RAX were set to Microphthalmia, syndromic 16, MIM#611038","entity_name":"RAX","entity_type":"gene"},{"created":"2025-12-04T17:21:56.055530+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.91","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: RAX as ready","entity_name":"RAX","entity_type":"gene"},{"created":"2025-12-04T17:21:56.045411+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.91","user_name":"Chirag Patel","item_type":"entity","text":"Gene: rax has been classified as Amber List (Moderate Evidence).","entity_name":"RAX","entity_type":"gene"}]}