Non-Fanconi anaemia
Gene: SLC25A38
Comment when marking as ready: Marked as Ready: 4th May 2017.Created: 4 May 2017, 11:56 a.m.
Comment on list classification: Kept rating as Green: Green expert review plus >3 unrelated cases of SLC25A38 variants in sideroblastic anemia patients. Confirmed DD-G2P gene for sideroblastic anemia.Created: 4 May 2017, 11:56 a.m.
Comment on mode of inheritance: Biallelic mode of inheritance confirmed by OMIM and DD-G2P.Created: 4 May 2017, 11:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive pyridoxine-refractory sideroblastic anaemia
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for SLC25A38 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal
SLC25A38 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal
SLC25A38 was added to Non-Fanconi anaemiapanel. Source: UKGTN
Model of inheritance for gene SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal
SLC25A38 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal
SLC25A38 was added to Non-Fanconi anaemiapanel. Source: Eligibility statement prior genetic testing
Model of inheritance for gene SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal
SLC25A38 was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal
SLC25A38 was added to Non-Fanconi anaemiapanel. Source: UKGTN
Model of inheritance for gene SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal
SLC25A38 was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene SLC25A38 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SLC25A38 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SLC25A38 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SLC25A38 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SLC25A38 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SLC25A38 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene SLC25A38 was changed to BIALLELIC, autosomal or pseudoautosomal
SLC25A38 was added to Non-Fanconi anaemiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene SLC25A38 was changed to BIALLELIC, autosomal or pseudoautosomal
SLC25A38 was added to Non-Fanconi anaemiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services
SLC25A38 was added to Non-Fanconi anaemiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services