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  3. SLC25A21
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Mitochondrial disease

Gene: SLC25A21

Amber List (moderate evidence)
SLC25A21 (solute carrier family 25 member 21)
EnsemblGeneIds (GRCh38): ENSG00000183032
EnsemblGeneIds (GRCh37): ENSG00000183032
OMIM: 607571, Gene2Phenotype
SLC25A21 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

One case with a homozygous variant and functional assays showing mitochondrial dysfunction.
Sources: NHS GMS
Created: 23 Mar 2020, 1:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome-18, MIM#618811

Publications

Created: 23 Mar 2020, 1:40 a.m.

Panel version: Imported from Mendeliome panel version 0.1823

Bryony Thompson (Royal Melbourne Hospital)

I don't know

One case with a homozygous variant and functional assays showing mitochondrial dysfunction.
Sources: NHS GMS
Created: 20 Mar 2020, 6:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome-18 MIM#618811

Publications

Created: 20 Mar 2020, 6:22 a.m.

Panel version: 0.231

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Mitochondrial DNA depletion syndrome-18 MIM#618811
OMIM
607571
Clinvar variants
Variants in SLC25A21
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: slc25a21 has been classified as Amber List (Moderate Evidence).

20 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: slc25a21 has been classified as Amber List (Moderate Evidence).

20 Mar 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: SLC25A21 was added gene: SLC25A21 was added to Mitochondrial disease. Sources: NHS GMS 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 Mitochondrial DNA depletion syndrome-18 MIM#618811 Review for gene: SLC25A21 was set to AMBER