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Mitochondrial disorders

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 11 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.
Created: 15 Feb 2016, 5:12 p.m.

Panel version: 0.317

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 7 Feb 2016, 10:17 a.m.

Panel version: 0.33

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • nonsyndromic autosomal recessive congenital sideroblastic anemia
  • congenital sideroblastic anemias
  • severe, non-syndromic, microcytic/hypochromic sideroblastic anemia
OMIM
610819
Clinvar variants
Variants in SLC25A38
Penetrance
Complete
Publications
  • 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).
Panels with this gene

History Filter Activity

15 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Feb 2016, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

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).

15 Feb 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SLC25A38 were set to nonsyndromic autosomal recessive congenital sideroblastic anemia; congenital sideroblastic anemias; severe, non-syndromic, microcytic/hypochromic sideroblastic anemia

15 Feb 2016, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

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).

15 Feb 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SLC25A38 were set to nonsyndromic autosomal recessive congenital sideroblastic anemia; congenital sideroblastic anemias

15 Feb 2016, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SLC25A38 were set to PMID: 19412178; PMID: 25985931 (mutations detected in 3 patients); PMID: 26821380 (potential novel treatment using glycine and folate).

15 Feb 2016, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SLC25A38 were set to PMID: 19412178; PMID: 26821380 (potential novel treatment using glycine and folate).

7 Feb 2016, Gel status: 0

Added New Source

Shamima Rahman (UCL Institute of Child Health)

SLC25A38 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list

7 Feb 2016, Gel status: 0

Created

Shamima Rahman (UCL Institute of Child Health)

SLC25A38 was created by [email protected]