Congenital myopathy

Gene: ASCC1

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 26 Sep 2024, 10:39 a.m. | Last Modified: 26 Sep 2024, 10:39 a.m.

Panel Version: 4.42

Comment on list classification: There is sufficient evidence (>3 unrelated cases and functional evidence from zebrafish model) for this gene to be promoted to GREEN rating at the next major review.

This gene has already been associated with relevant phenotypes in both OMIM and Gene2Phenotype.

Created: 28 Mar 2023, 10:21 a.m. | Last Modified: 28 Mar 2023, 12:45 p.m.

Panel Version: 4.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinal muscular atrophy with congenital bone fractures 2, OMIM:616867

Publications

• 26924529
• 28218388
• 30327447
• 35276412
• 35690317
• 35838082

Green List (high evidence)

recessive pathogenic variants in ASCC1 gene have now been described in a number of unrelated individuals presenting with a spectrum of phenotypes ranging from prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures to milder presentations without fractures, in keeping with a diagnosis of congenital myopathy .
Sources: Literature

Created: 24 Mar 2023, 11:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
prenatal-onset muscle weakness; congenital onset myopathy; arthrogryposis; congenital bone fractures

Publications

• PMID: 35838082
• 30327447
• 35690317

Mode of pathogenicity
Other