Fetal anomalies
Gene: PYROXD1

PYROXD1 (pyridine nucleotide-disulphide oxidoreductase domain 1)
EnsemblGeneIds (GRCh38): ENSG00000121350
EnsemblGeneIds (GRCh37): ENSG00000121350
OMIM: 617220, Gene2Phenotype
PYROXD1 is in 6 panels

1 review

Belinda Chong (Victorian Clinical Genetics Services)

Red List (low 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

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: 1 Feb 2022, 7:14 a.m. | Last Modified: 1 Feb 2022, 7:14 a.m.

Panel Version: 0.3031

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, myofibrillar, 8 (MIM#617258)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 1 Feb 2022, 7:14 a.m.
Last Modified: 1 Feb 2022, 7:14 a.m.
Panel version: 0.3031

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Genomics England PanelApp

Phenotypes

Myopathy, myofibrillar, 8 (MIM#617258)

OMIM

617220

Clinvar variants

Variants in PYROXD1

Penetrance

None

Publications

Panels with this gene