| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Genomic newborn screening: ICoNS v0.7 | GAMT | Judit Garcia edited their review of gene: GAMT: Changed publications: PMID: 36856349, PMID: 28055022, PMID: 28055022, https://doi.org/10.1016/j.ymgme.2024.108362. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.7 | GAMT | Judit Garcia edited their review of gene: GAMT: Changed publications: PMID: 36856349, PMID: 28055022, PMID: 28055022 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.7 | GAMT |
Judit Garcia changed review comment from: Broad review of CCDS biology/phenotypes including GAMT. Mulik et al., Children (Basel), 2023. The condition is treatable when identified early (creatine supplementation, dietary management). Treatment: Oral creatine monohydrate to replenish cerebral creatine plus arginine restriction and L-ornithine supplementation to reduce GAA; best outcomes with early initiation. https://www.ncbi.nlm.nih.gov/books/NBK3794/?utm_source=chatgpt.com; Stockler-Ipsiroglu et al., Mol Genet Metab, 2014. There is good evidence of GREEN in other panel of gens: Mendeliome, Genetic Epilepsy, Intellectual Disability, Dystonia – complex, Reproductive Carrier Screening, Metabolic Disorders, Newborn screening panels, etc. Only in RED in Cerebral Palsy, Fetal anomalies. Evidence sources: Expert Review Green, NHS GMS, Victorian Clinical Genetics Services, Australian Genomics Health Alliance Epilepsy Flagship. There is a biochemical test to confirm patogenicity of variants detected. Pathogenic variants: Increased Guanidinoacetic acid (GAA) in urine, plasma and dired blood spot; brain MRS with reduced creatine. There is a definitive gene–disease validity (ClinGen); use CCDS VCEP ACMG/AMP specifications for variant classification in clinical reporting.; to: Broad review of CCDS biology/phenotypes including GAMT. Mulik et al., Children (Basel), 2023. The condition is treatable when identified early (creatine supplementation, dietary management). Treatment: Oral creatine monohydrate to replenish cerebral creatine plus arginine restriction and L-ornithine supplementation to reduce GAA; best outcomes with early initiation. https://www.ncbi.nlm.nih.gov/books/NBK3794/?utm_source=chatgpt.com; Stockler-Ipsiroglu et al., Mol Genet Metab, 2014. There is good evidence of GREEN in other panel of gens: Mendeliome, Genetic Epilepsy, Intellectual Disability, Dystonia – complex, Reproductive Carrier Screening, Metabolic Disorders, Newborn screening panels, etc. Only in RED in Cerebral Palsy, Fetal anomalies. Evidence sources: Expert Review Green, NHS GMS, Victorian Clinical Genetics Services, Australian Genomics Health Alliance Epilepsy Flagship. There is a biochemical test to confirm pathogenicity of variants detected. Pathogenic variants: Increased Guanidinoacetic acid (GAA) in urine, plasma and dired blood spot; brain MRS with reduced creatine. There is a definitive gene–disease validity (ClinGen); use CCDS VCEP ACMG/AMP specifications for variant classification in clinical reporting. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.7 | GAMT |
Judit Garcia edited their review of gene: GAMT: Added comment: Broad review of CCDS biology/phenotypes including GAMT. Mulik et al., Children (Basel), 2023. The condition is treatable when identified early (creatine supplementation, dietary management). Treatment: Oral creatine monohydrate to replenish cerebral creatine plus arginine restriction and L-ornithine supplementation to reduce GAA; best outcomes with early initiation. https://www.ncbi.nlm.nih.gov/books/NBK3794/?utm_source=chatgpt.com; Stockler-Ipsiroglu et al., Mol Genet Metab, 2014. There is good evidence of GREEN in other panel of gens: Mendeliome, Genetic Epilepsy, Intellectual Disability, Dystonia – complex, Reproductive Carrier Screening, Metabolic Disorders, Newborn screening panels, etc. Only in RED in Cerebral Palsy, Fetal anomalies. Evidence sources: Expert Review Green, NHS GMS, Victorian Clinical Genetics Services, Australian Genomics Health Alliance Epilepsy Flagship. There is a biochemical test to confirm patogenicity of variants detected. Pathogenic variants: Increased Guanidinoacetic acid (GAA) in urine, plasma and dired blood spot; brain MRS with reduced creatine. There is a definitive gene–disease validity (ClinGen); use CCDS VCEP ACMG/AMP specifications for variant classification in clinical reporting.; Changed publications: PMID: 36856349, PMID: 28055022; Changed phenotypes: Creberal creatine deficiency syndrome 2 (MIM 612736), global developmental delay, intellectual disability, epilepsy, behavioral disturbance, movement disorder, markedly low brain creatine and elevated guanidinoacetate. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.7 | GAMT |
Judit Garcia gene: GAMT was added gene: GAMT was added to Genomic newborn screening: ICoNS. Sources: Expert Review Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GAMT were set to Creberal creatine deficiency syndrome 2 (MIM 612736) Penetrance for gene: GAMT were set to Complete Review for gene: GAMT was set to GREEN gene: GAMT was marked as current diagnostic Added comment: Sources: Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||