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Possible mitochondrial disorder - nuclear genes

Gene: SLC25A42

Green List (high evidence)

SLC25A42 (solute carrier family 25 member 42)
EnsemblGeneIds (GRCh38): ENSG00000181035
EnsemblGeneIds (GRCh37): ENSG00000181035
OMIM: 610823, Gene2Phenotype
SLC25A42 is in 7 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Comment on phenotypes: Updated as phenotype added to OMIM in May 2019.
Created: 27 Jun 2019, 3:25 p.m. | Last Modified: 27 Jun 2019, 3:25 p.m.
Panel Version: 0.204

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

15 individuals reported to date with bi-allelic variants in this gene. 14/15 had the same homozygous variant (founder effect in Arab population).
Created: 1 Sep 2018, 3:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, 618416
OMIM
610823
Clinvar variants
Variants in SLC25A42
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Jun 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: SLC25A42 were changed from No OMIM phenotype to Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, 618416

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: SLC25A42 was added gene: SLC25A42 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SLC25A42 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A42 were set to 26541337; 29923093; 29327420 Phenotypes for gene: SLC25A42 were set to No OMIM phenotype