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  3. SLC25A38
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Mitochondrial disease

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

SLC25A38 belongs to the SLC25 family of mitochondrial carrier proteins. Multiple affected families reported together with an animal model.
Sources: Expert list
Created: 18 Mar 2020, 1:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950

Publications

Created: 18 Mar 2020, 1:55 a.m.

Panel version: 0.170

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950
OMIM
610819
Clinvar variants
Variants in SLC25A38
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc25a38 has been classified as Green List (High Evidence).

18 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc25a38 has been classified as Green List (High Evidence).

18 Mar 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC25A38 was added gene: SLC25A38 was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A38 were set to 19412178 Phenotypes for gene: SLC25A38 were set to Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950 Review for gene: SLC25A38 was set to GREEN