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  2. Limb-Girdle Muscular Dystrophy and Distal Myopathy
  3. PYROXD1
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Limb-Girdle Muscular Dystrophy and Distal 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 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Mostly myopathy, some families reported with LGMD phenotype.
Created: 29 Jun 2020, 10:29 a.m. | Last Modified: 29 Jun 2020, 10:29 a.m.
Panel Version: 0.28
Created: 29 Jun 2020, 10:29 a.m.
Last Modified: 29 Jun 2020, 10:29 a.m.
Panel version: 0.28

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

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, 3:12 a.m. | Last Modified: 29 Jun 2020, 3:12 a.m.
Panel Version: 0.18

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, myofibrillar, 8 (MIM#617258)

Publications

Created: 29 Jun 2020, 3:12 a.m.
Last Modified: 29 Jun 2020, 3:12 a.m.
Panel version: 0.18

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myopathy, myofibrillar, 8, 617258
  • adult-onset limb girdle muscular dystrophy
OMIM
617220
Clinvar variants
Variants in PYROXD1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Apr 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).

29 Jun 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PYROXD1 were set to 30515627

29 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

29 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Jan 2020, Gel status: 3

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 Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYROXD1 were set to 30515627 Phenotypes for gene: PYROXD1 were set to Myopathy, myofibrillar, 8, 617258; adult-onset limb girdle muscular dystrophy