Mitochondrial disorders
Gene: SLC25A38Comment on list classification: Multiple studies, a confirmed DD gene and rated green by reviewer.Created: 15 Feb 2016, 5:12 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for SLC25A38 were set to PMID: 19412178; PMID: 25985931 (mutations detected in 3 patients in this gene); PMID: 21393332 (11 patients); PMID: 19731322 (12 probands with mutations in this gene); PMID: 26821380 (potential novel treatment using glycine and folate).
Phenotypes for SLC25A38 were set to nonsyndromic autosomal recessive congenital sideroblastic anemia; congenital sideroblastic anemias; severe, non-syndromic, microcytic/hypochromic sideroblastic anemia
Publications for SLC25A38 were set to PMID: 19412178; PMID: 25985931 (mutations detected in 3 patients); PMID: 21393332 (11 patients); PMID: 26821380 (potential novel treatment using glycine and folate).
Phenotypes for SLC25A38 were set to nonsyndromic autosomal recessive congenital sideroblastic anemia; congenital sideroblastic anemias
Publications for SLC25A38 were set to PMID: 19412178; PMID: 25985931 (mutations detected in 3 patients); PMID: 26821380 (potential novel treatment using glycine and folate).
Publications for SLC25A38 were set to PMID: 19412178; PMID: 26821380 (potential novel treatment using glycine and folate).
SLC25A38 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list
SLC25A38 was created by [email protected]