Muscular dystrophy and myopathy_Paediatric
Gene: PYROXD1EnsemblGeneIds (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 05/11/2019Created: 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)
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 testedCreated: 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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pyroxd1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pyroxd1 has been classified as Green List (High Evidence).
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