| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Additional findings_Paediatric v1.0 | HARS1 | Gene symbol changed from HARS to HARS1 during gene set migration (ENSG00000170445 -> ENSG00000170445) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v1.0 | LARS1 | Gene symbol changed from LARS to LARS1 during gene set migration (ENSG00000133706 -> ENSG00000133706) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v1.0 | KARS1 | Gene symbol changed from KARS to KARS1 during gene set migration (ENSG00000065427 -> ENSG00000065427) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v1.0 | AARS1 | Gene symbol changed from AARS to AARS1 during gene set migration (ENSG00000090861 -> ENSG00000090861) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v1.0 | RS1 | Gene migrated from ENSG00000102104 to ENSG00000102104 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | IRS1 |
Zornitza Stark gene: IRS1 was added gene: IRS1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: IRS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: IRS1 were set to Diabetes mellitus, noninsulin dependent |
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| Additional findings_Paediatric v0.2 | RS1 |
Zornitza Stark gene: RS1 was added gene: RS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: RS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RS1 were set to Retinoschisis, X linked |
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