Congenital myopathyGene: PAX7
Comment on list classification: New gene added from recommendation by Genomics Clinical team. Appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene to Green.
Created: 9 Oct 2019, 11:32 a.m. | Last Modified: 9 Oct 2019, 11:32 a.m.
Panel Version: 1.163
As a result of adding PAX7 to Neuromuscular Disorders panel as recommended by external reviewer, Genomics England clinical team recommended this gene was added to Congenital Myopathy panel.
Feichtinger et. al. report four independent consanguineous families with four different (homozygous) mutations in PAX7. Sources: Literature
Cristina Dias (The Francis Crick Institute), 17 Sep 2019
Sources: Expert Review
Created: 9 Oct 2019, 11:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Hypotonia; Axial hypotonia; Ptosis; Scoliosis; Delayed motor milestones; Myopathy, congenital, progressive, with scoliosis, 618578
Source NHS GMS was added to PAX7.
Gene: pax7 has been classified as Green List (High Evidence).
gene: PAX7 was added gene: PAX7 was added to Congenital myopathy. Sources: Expert Review Mode of inheritance for gene: PAX7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAX7 were set to 31092906 Phenotypes for gene: PAX7 were set to Hypotonia; Axial hypotonia; Ptosis; Scoliosis; Delayed motor milestones; Myopathy, congenital, progressive, with scoliosis, 618578 Review for gene: PAX7 was set to GREEN