1. Panels
  2. Red cell disorders
  3. SLC25A38
STRs in panel
Prev Next
Regions in panel
Prev Next

Red cell 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

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: Imported from Bone Marrow Failure panel version 0.136

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • London South GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Anaemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950
OMIM
610819
Clinvar variants
Variants in SLC25A38
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Sep 2021, 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).

16 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory, 205950; 205950 Pyridoxine refractory sideroblastic anaemia 2; 205950 Anemia, sideroblastic, 2, pyridoxine-refractory for gene: SLC25A38

15 Sep 2020, Gel status: 3

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 Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH 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 205950 Anemia, sideroblastic, 2, pyridoxine-refractory; Anemia, sideroblastic, 2, pyridoxine-refractory, 205950; 205950 Pyridoxine refractory sideroblastic anaemia 2