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 4 panels

2 reviews

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Myopathy, myofibrillar, 8, 617258
  • myopathy
  • early-onset myopathy with internalized nuclei and myofibrillar disorganization
OMIM
617220
Clinvar variants
Variants in PYROXD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: pyroxd1 has been classified as Green List (High Evidence).

5 Dec 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: PYROXD1 were changed from Myopathy, myofibrillar, 8, 617258; myopathy to Myopathy, myofibrillar, 8, 617258; myopathy; early-onset myopathy with internalized nuclei and myofibrillar disorganization

2 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: pyroxd1 has been classified as Amber List (Moderate Evidence).

2 Dec 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: PYROXD1 was added gene: PYROXD1 was added to Congenital myopathy. Sources: Expert Review 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, 617258; myopathy Review for gene: PYROXD1 was set to AMBER