Congenital muscular dystrophy

Gene: PYROXD1

Green List (high evidence)

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

Created: 26 Sep 2024, 1:47 p.m. | Last Modified: 26 Sep 2024, 1:47 p.m.

Panel Version: 4.28

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

Comment on list classification: There is sufficient evidence (>3 unrelated cases) with childhood-onset muscular dystrophy for this gene to be promoted to GREEN in this panel in the next major review.

Created: 4 Apr 2023, 5:06 p.m. | Last Modified: 4 Apr 2023, 5:08 p.m.

Panel Version: 4.9

As reviewed by Anna Sarkozy, PMID:33694278 reported three patients from two unrelated Turkish families identified with biallelic variants in PYROXD1 gene and diagnosed with limb-girdle muscular dystrophy (LGMD), facial weakness, normal CK levels, and slow progress. Of these, two unrelated patients had childhood-onset. In addition, several patients reviewed in PMID:33694278 has neonatal/ infantile/ childhood onset myopathy with dystrophic features.

Created: 4 Apr 2023, 5:03 p.m. | Last Modified: 4 Apr 2023, 5:03 p.m.

Panel Version: 4.7

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 33694278

Green List (high evidence)

this gene is already included as green gene in the CM panel. there is body of evidence that the clinical spectrum of this gene is wider and also includes dystrophic presentations with raised CK. thus this gene should also be included in the CMD R79 panel
Sources: Literature

Created: 24 Mar 2023, 1:23 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
muscular dystrophy

Publications

• PMID: 33694278
• 30515627

Mode of pathogenicity
Other