Congenital myopathy
Gene: SLC25A42Comment on list classification: Promoted from Red to Amber. This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. Currently there is not enough evidence to support a gene-disease association. This gene has been given an Amber rating.Created: 30 Jun 2021, 2:08 p.m. | Last Modified: 30 Jun 2021, 2:08 p.m.
Panel Version: 2.39
2 additional publications found but only a single additional variant identified. Condition is broader in scope than 'congenital myopathy' though initial presentation may be with hypotonia.
PMID: 26541337: 1 16 yo patient from a consanguineous family reported with a missense variant (N291D), presenting with mitochondrial myopathy. Zebrafish slc25a42 knockdown showed muscle weakness.
PMID: 29923093: Reported two patients, one with the missense variant (N291D) previously described and an additional hom splice variant shown to result in aberrant splicing. The patients were aged 6 and 9 and both presented with muscular hypotonia. The patient harbouring the splice variant also presented with rhabdomyolysis.
PMID: 29327420: 12 patients reported with the same N291D variant.Created: 15 Jun 2020, 8:57 a.m. | Last Modified: 15 Jun 2020, 8:57 a.m.
Panel Version: 2.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression (MIM#618416)
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
muscle weakness, lactic acidosis, and muscle changes suggestive of mitochondrial dysfunction
Publications
Comment when marking as ready: Insufficient evidenceCreated: 3 Feb 2017, 1:56 p.m.
Comment on list classification: Only one report. Insufficient evidence at presentCreated: 3 Feb 2017, 1:56 p.m.
No OMIM phenotype assigned. One case report of a Saudi consanguineous family with one individual with mitochondrial myopathy. Therefore not sufficient evidence for association at present.Created: 31 Jan 2017, 1:43 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Novel association reported in PMID: 26541337Created: 25 Aug 2016, 12:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
muscle weakness, lactic acidosis, and muscle changes suggestive of mitochondrial dysfunction
Publications
Tag watchlist tag was added to gene: SLC25A42.
Gene: slc25a42 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: SLC25A42 were changed from muscle weakness, lactic acidosis, and muscle changes suggestive of mitochondrial dysfunction to Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, OMIM:618416
Publications for gene: SLC25A42 were set to 26541337
Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
SLC25A42 was added to Congenital myopathypanel. Sources: Literature
SLC25A42 was created by ellenmcdonagh