Congenital myopathy
Gene: 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.
Original review:
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 ReviewCreated: 9 Oct 2019, 11:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypotonia; Axial hypotonia; Ptosis; Scoliosis; Delayed motor milestones; Myopathy, congenital, progressive, with scoliosis, 618578
Publications
Phenotypes for gene: PAX7 were changed from Hypotonia; Axial hypotonia; Ptosis; Scoliosis; Delayed motor milestones; Myopathy, congenital, progressive, with scoliosis, 618578 to Myopathy, congenital, progressive, with scoliosis, OMIM: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