Molecular autopsy
Gene: SLC25A38Added phenotypes severe, non-syndromic, microcytic/hypochromic sideroblastic anemia; nonsyndromic autosomal recessive congenital sideroblastic anemia; congenital sideroblastic anemias for gene: SLC25A38 Publications for gene SLC25A38 were changed from PMID: 19412178; PMID: 26821380 (potential novel treatment using glycine and folate).; PMID: 21393332 (11 patients); PMID: 25985931 (mutations detected in 3 patients in this gene); PMID: 19731322 (12 probands with mutations in this gene) to PMID: 26821380 (potential novel treatment using glycine and folate).; PMID: 19731322 (12 probands with mutations in this gene); PMID: 25985931 (mutations detected in 3 patients in this gene); PMID: 21393332 (11 patients); PMID: 19412178
Added phenotypes severe, non-syndromic, microcytic/hypochromic sideroblastic anemia; nonsyndromic autosomal recessive congenital sideroblastic anemia; Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); congenital sideroblastic anemias for gene: SLC25A38
gene: SLC25A38 was added gene: SLC25A38 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A38 were set to PMID: 19412178; PMID: 26821380 (potential novel treatment using glycine and folate).; PMID: 21393332 (11 patients); PMID: 25985931 (mutations detected in 3 patients in this gene); PMID: 19731322 (12 probands with mutations in this gene) Phenotypes for gene: SLC25A38 were set to severe, non-syndromic, microcytic/hypochromic sideroblastic anemia; nonsyndromic autosomal recessive congenital sideroblastic anemia; Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); congenital sideroblastic anemias