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Mendeliome

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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.

5 unrelated families and animal models in the original publication.
Created: 14 Apr 2022, 6:37 a.m. | Last Modified: 14 Apr 2022, 6:37 a.m.
Panel Version: 0.12910

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, myofibrillar, 8 , MIM#617258

Publications

Details

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

History Filter Activity

14 Apr 2022, 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).

14 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PYROXD1 were changed from to Myopathy, myofibrillar, 8 , MIM#617258

14 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PYROXD1 were set to

14 Apr 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PYROXD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PYROXD1 was added gene: PYROXD1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PYROXD1 was set to Unknown