Groopman et al 2019 - Genes with diagnostic variantsGene: SMC1A
From Groopman et al 2019 Table S7. Gene symbol: SMC1A; Inheritance: X-linked; Clinical diagnosis: Congenital or cystic renal disease; Genetic diagnosis: Cornelia de Lange syndrome 2; OMIM phenotype MIM No.: 300590; Number of cases: 1
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4
Source Expert Review Red was added to SMC1A.
gene: SMC1A was added gene: SMC1A was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: SMC1A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: SMC1A were set to Congenital or cystic renal disease; MIM 300590; Cornelia de Lange syndrome 2