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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 6 panels

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Myofibrillar myopathy-8 is an autosomal recessive myopathy characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs.

Upper and lower limbs are affected, and some individuals develop distal muscle weakness and atrophy. Ambulation is generally preserved, and patients do not have significant respiratory compromise. Muscle biopsy shows a mix of myopathic features, including myofibrillar inclusions and sarcomeric disorganization.

Recurring variant, p.(Asn155ser), identified in multiple families of different ethnicity. Age of onset is variable between families, as both early and later-onset have been reported (PMID: 33694278).
Created: 16 Jan 2025, 10:21 p.m. | Last Modified: 16 Jan 2025, 10:21 p.m.
Panel Version: 1.1064

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, myofibrillar, 8 MIM#617258

Publications

Created: 16 Jan 2025, 10:21 p.m.
Last Modified: 16 Jan 2025, 10:21 p.m.
Panel version: 1.1064

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myopathy, myofibrillar, 8 MIM#617258
OMIM
617220
Clinvar variants
Variants in PYROXD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PYROXD1 were changed from Myopathy, myofibrillar, 8, 617258 (3), Autosomal recessive to Myopathy, myofibrillar, 8 MIM#617258

17 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PYROXD1 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PYROXD1 was added gene: PYROXD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PYROXD1 were set to Myopathy, myofibrillar, 8, 617258 (3), Autosomal recessive