Cytopenias and congenital anaemias
Gene: SLC25A38EnsemblGeneIds (GRCh38): ENSG00000144659
EnsemblGeneIds (GRCh37): ENSG00000144659
OMIM: 610819, Gene2Phenotype
SLC25A38 is in 11 panels
2 reviews
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Sufficient evidence, appropriate phenotypeCreated: 28 Feb 2017, 2:11 p.m.
Many reported cases in above PMID. Biallelic including truncations.Created: 22 Feb 2017, 10:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Anemia, sideroblastic, 2, pyridoxine-refractory 205950
Publications
- PMID 19412178
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcytic anemia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
- UKGTN
- Phenotypes
-
- Anemia, sideroblastic, 2, pyridoxine-refractory 205950
- OMIM
- 610819
- Clinvar variants
- Variants in SLC25A38
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cytopenias and congenital anaemias
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Rare anaemia
- Iron metabolism disorders - NOT common HFE mutations
- Intellectual disability
- Fetal anomalies
- Undiagnosed metabolic disorders
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for SLC25A38 were set to Anemia, sideroblastic, 2, pyridoxine-refractory 205950
Set publications
Helen Brittain (Genomics England Curator)Publications for SLC25A38 were set to 19412178
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)SLC25A38 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Eligibility statement prior genetic testing
Created
Louise Daugherty (Genomics England Curator)SLC25A38 was created by LouiseD