Congenital muscular dystrophy and congenital myopathy

Gene: SLC25A42

Comment 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

I don't know

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

• 26541337
• 29923093
• 29327420

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
muscle weakness, lactic acidosis, and muscle changes suggestive of mitochondrial dysfunction

Publications

• 26541337

Red List (low evidence)

Comment when marking as ready: Insufficient evidence

Created: 3 Feb 2017, 1:56 p.m.

Comment on list classification: Only one report. Insufficient evidence at present

Created: 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

• PMID 26541337

Novel association reported in PMID: 26541337

Created: 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

• 26541337