Possible mitochondrial disorder - nuclear genes
Gene: SLC25A21EnsemblGeneIds (GRCh38): ENSG00000183032
EnsemblGeneIds (GRCh37): ENSG00000183032
OMIM: 607571, Gene2Phenotype
SLC25A21 is in 3 panels
2 reviews
Carl Fratter (Oxford University Hospitals NHS Trust)
Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One case with functional studiesCreated: 10 May 2019, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial oxodicarboxylate carrier deficiency
Publications
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
No OMIM phenotype
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- NHS GMS
- Phenotypes
-
- No OMIM phenotype
- OMIM
- 607571
- Clinvar variants
- Variants in SLC25A21
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: SLC25A21 was added gene: SLC25A21 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: SLC25A21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A21 were set to 29517768 Phenotypes for gene: SLC25A21 were set to No OMIM phenotype