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Inborn errors of metabolism

Gene: SLC25A38

Green List (high evidence)

SLC25A38 (solute carrier family 25 member 38)
EnsemblGeneIds (GRCh38): ENSG00000144659
EnsemblGeneIds (GRCh37): ENSG00000144659
OMIM: 610819, Gene2Phenotype
SLC25A38 is in 12 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Multiple studies, a confirmed DD gene and rated green by reviewer.
Created: 15 Feb 2016, 5:12 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • severe, non-syndromic, microcytic/hypochromic sideroblastic anemia
  • Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • nonsyndromic autosomal recessive congenital sideroblastic anemia
  • congenital sideroblastic anemias
OMIM
610819
Clinvar variants
Variants in SLC25A38
Penetrance
None
Publications
  • 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
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SLC25A38. Source London North GLH was added to SLC25A38.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added 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 27604308 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

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: SLC25A38 was added gene: SLC25A38 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A38 were set to 27604308 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