Fetal anomalies
Gene: SLC25A26

SLC25A26 (solute carrier family 25 member 26)
EnsemblGeneIds (GRCh38): ENSG00000144741
EnsemblGeneIds (GRCh37): ENSG00000144741
OMIM: 611037, Gene2Phenotype
SLC25A26 is in 3 panels

1 review

Daniel Flanagan (Victorian Clinical Genetics Services)

I don't know

Three families reported with biallelic SLC25A26 variants and combined oxidative phosphorylation deficiency. Patient 3 was delivered by caesarean section at 30 weeks 5 days after reduced fetal movements, polyhydramnios, fetal hydrops, and poor cardiotocography readings were noted from 27 weeks of gestational age. She had normal antropometric parameters but presented with a poor Apgar score (3-5-6) due to bradycardia, hypotonia, and respiratory insufficiency. Brain ultrasound demonstrated cystic necrosis of the germinal matrix (extensive symmetrical caudothalamic germinolysis) and mild striatal arteriopathy. The child died of respiratory and multiple organ failure at 5 days of age. Patient 1 presented at 4 weeks with acute circulatory collapse and pulmonary hypertension, and patient 2 presented at 11 hours after birth with severe lactic acidosis, an elevated pyruvate level, and respiratory failure. Patient 3 was homozygous for a canonical splice variant while patient 1 and 2 were homozygous and comp het for missense variants, respectively.
Created: 10 Feb 2022, 5:12 a.m. | Last Modified: 10 Feb 2022, 5:12 a.m.

Panel Version: 0.3279

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 28 (MIM#616794)

Publications

26522469

Created: 10 Feb 2022, 5:12 a.m.
Last Modified: 10 Feb 2022, 5:12 a.m.
Panel version: 0.3279

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Genomics England PanelApp

Phenotypes

Combined oxidative phosphorylation deficiency 28 (MIM#616794)

OMIM

611037

Clinvar variants

Variants in SLC25A26

Penetrance

None

Publications

26522469

Panels with this gene