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  3. PYROXD1
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Congenital muscular dystrophy and congenital myopathy

Gene: PYROXD1

Green List (high evidence)
PYROXD1 (pyridine nucleotide-disulphide oxidoreductase domain 1)
EnsemblGeneIds (GRCh38): ENSG00000121350
EnsemblGeneIds (GRCh37): ENSG00000121350
OMIM: 617220, Gene2Phenotype
PYROXD1 is in 5 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

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: 21 Dec 2023, 8:09 p.m. | Last Modified: 21 Dec 2023, 8:09 p.m.
Panel Version: 0.197
Anna Sarkozy (Great Ormond Street Hospital) reviewing this gene on the old GMS Congenital muscular dystrophy panel on 24 Mar 2023 notes (rated Green):'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'.

Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal

Phenotypes: muscular dystrophy

Publications: PMID: 33694278; 30515627

Mode of pathogenicity: Other
Created: 21 Dec 2023, 8:07 p.m. | Last Modified: 21 Dec 2023, 8:07 p.m.
Panel Version: 0.197

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 21 Dec 2023, 8:07 p.m.
Last Modified: 21 Dec 2023, 8:07 p.m.
Panel version: 0.197

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
early-onset myopathy with internalized nuclei and myofibrillar disorganization

Publications

Created: 5 Dec 2019, 2:50 p.m.
Last Modified: 5 Dec 2019, 2:50 p.m.
Copied from panel: Congenital myopathy v3.86

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: Upgraded rating from Amber to Green. Anna Sarkozy (Great Ormond Street Hospital) and Francesco Muntoni (Great Ormond Street Hospital) recommend a Green rating this gene for R81
Created: 5 Dec 2019, 4:43 p.m. | Last Modified: 5 Dec 2019, 4:43 p.m.
Panel Version: 1.230
New gene suggested by Anna Sarkozy for inclusion on the congenital myopathy panel
Sources: Expert Review
Created: 2 Dec 2019, 12:54 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, myofibrillar, 8, 617258; myopathy

Publications

Created: 2 Dec 2019, 12:54 p.m.

Copied from panel: Congenital myopathy v3.86

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • Myopathy, myofibrillar, 8, OMIM:617258
OMIM
617220
Clinvar variants
Variants in PYROXD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 May 2024, Gel status: 3

Added New Source

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to PYROXD1.

6 Feb 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: PYROXD1 was added gene: PYROXD1 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYROXD1 were set to 27745833; 31455395 Phenotypes for gene: PYROXD1 were set to Myopathy, myofibrillar, 8, OMIM:617258