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Mendeliome

Gene: SLC25A26

Green List (high evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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: 6 Apr 2022, 11:28 p.m. | Last Modified: 6 Apr 2022, 11:28 p.m.
Panel Version: 0.12679

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 28, MIM# 616794

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 28, MIM# 616794
OMIM
611037
Clinvar variants
Variants in SLC25A26
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc25a26 has been classified as Green List (High Evidence).

6 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC25A26 were changed from to Combined oxidative phosphorylation deficiency 28, MIM# 616794

6 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC25A26 were set to

6 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC25A26 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC25A26 was added gene: SLC25A26 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC25A26 was set to Unknown