Muscular dystrophy and myopathy_Paediatric

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Definitive gene-disease validity classification by ClinGen Congenital Myopathy VCEP - reviewed 05/11/2019
Created: 5 Jun 2023, 4:47 a.m. | Last Modified: 5 Jun 2023, 4:47 a.m.
Panel Version: 0.194

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Reported in >3 families. Recurring variant, Asn155ser, identified in multiple families of different ethnicity. Age of onset variable between families. Both early onset myopathy and later-onset LGMD families have been reported. Mostly normal CK levels

PMID: 30345904: 1 family reported with Asn155Ser variant. Normal CK level. Progressive muscle weakness began at the age of 9.

PMID: 30515627: 3 Finnish families reported, Asn155Ser, reported on at least one allele. Patients presented with LGMD-type phenotype, onset >20. EMG showed myopathic changes. Normal CK levels.

PMID: 27745833: 5 families reported (includes 2 consang Turkish families, hom Asn155Ser). Authors concluded gene as causative for early-onset myopathy, normal to moderately elevated CK levels. EMG was myopathic in all individuals tested
Created: 29 Jun 2020, 3:15 a.m. | Last Modified: 29 Jun 2020, 3:15 a.m.
Panel Version: 0.245

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
  • Expert list
Phenotypes
  • Myofibrillar myopathy 8 MONDO:0014993
OMIM
617220
Clinvar variants
Variants in PYROXD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

5 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

5 Jun 2023, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PYROXD1 was added gene: PYROXD1 was added to Muscular dystrophy_Paediatric. Sources: Expert list Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYROXD1 were set to 30345904; 30515627; 27745833 Phenotypes for gene: PYROXD1 were set to Myofibrillar myopathy 8 MONDO:0014993 gene: PYROXD1 was marked as current diagnostic