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  3. SLC25A38
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Bone Marrow Failure

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)

18 individuals reported in the gene discovery paper.
Created: 15 Sep 2020, 3:36 a.m. | Last Modified: 15 Sep 2020, 3:36 a.m.
Panel Version: 0.136

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 15 Sep 2020, 3:36 a.m.
Last Modified: 15 Sep 2020, 3:36 a.m.
Panel version: 0.136

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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

15 Sep 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).

15 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC25A38 were changed from to Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950

15 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC25A38 were set to

15 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC25A38 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC25A38 was added gene: SLC25A38 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC25A38 was set to Unknown