Congenital myopathy

Gene: PAX7

Green List (high evidence)

PAX7 (paired box 7)
EnsemblGeneIds (GRCh38): ENSG00000009709
EnsemblGeneIds (GRCh37): ENSG00000009709
OMIM: 167410, Gene2Phenotype
PAX7 is in 7 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

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 Review
Created: 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • Hypotonia
  • Axial hypotonia
  • Ptosis
  • Scoliosis
  • Delayed motor milestones
  • Myopathy, congenital, progressive, with scoliosis, 618578
OMIM
167410
Clinvar variants
Variants in PAX7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Dec 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PAX7.

9 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: pax7 has been classified as Green List (High Evidence).

9 Oct 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Louise Daugherty (Genomics England Curator)

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