Congenital muscular dystrophy
Gene: PYROXD1
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
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: LiteratureCreated: 24 Mar 2023, 1:23 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
muscular dystrophy
Publications
Mode of pathogenicity
Other
Tag Q2_23_NHS_review tag was added to gene: PYROXD1.
Tag Q2_23_promote_green tag was added to gene: PYROXD1.
Gene: pyroxd1 has been classified as Amber List (Moderate Evidence).
Gene: pyroxd1 has been classified as Amber List (Moderate Evidence).
Publications for gene: PYROXD1 were set to 33694278; 30515627
Publications for gene: PYROXD1 were set to 33694278; 30515627
Publications for gene: PYROXD1 were set to PMID: 33694278; 30515627
gene: PYROXD1 was added gene: PYROXD1 was added to Congenital muscular dystrophy. Sources: Literature Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYROXD1 were set to PMID: 33694278; 30515627 Phenotypes for gene: PYROXD1 were set to muscular dystrophy Penetrance for gene: PYROXD1 were set to unknown Mode of pathogenicity for gene: PYROXD1 was set to Other Review for gene: PYROXD1 was set to GREEN