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Muscular dystrophy and myopathy_Paediatric

Gene: PAX7

Green List (high evidence)
PAX7 (paired box 7)
EnsemblGeneIds (GRCh38): ENSG00000009709
EnsemblGeneIds (GRCh37): ENSG00000009709
OMIM: 167410, Gene2Phenotype
PAX7 is in 4 panels

3 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Infantile onset of progressive muscle weakness and atrophy

PMID: 31092906
5 individuals from 4 unrelated families with consanguineous parents - all having clinical signs of myopathy from birth.
Sources: Other
Created: 9 May 2023, 1:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myopathy 19 (MIM#618578)

Publications

Created: 9 May 2023, 1:36 a.m.

Panel version: 0.128

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

5 patients from 4 unrelated consanguineous families with progressive congenital myopathy
Sources: Expert list
Created: 11 Feb 2020, 11:55 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, congenital, progressive, with scoliosis MIM#618578

Publications

Created: 11 Feb 2020, 11:55 p.m.

Panel version: Imported from Myopathy - paediatric onset panel version 0.16

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

This gene disease association is further supported by PAX7 expression studies performed in mouse and human cells, which demonstrate PAX7 expression in quiescent satellite cells, which is upregulated following satellite cell activation following muscle stimulation or trauma. (PMID 11030621: Seale et al. 2000; PMID 24065826: von Maltzahn et al. 2013; 31092906: Feichtinger et al. 2019). Additionally, PAX7 deficient mouse models recapitulate several aspects of the reported phenotype including postnatal myopathy, impaired motor skills, growth deficiency and malformation of the maxilla and nose (PMID 8631261: Mansouri et. al 1996; PMID 11030621: Seale et. al 2000). Tissue specific knock-out of PAX7 in mouse myoblasts has been shown to result in depletion of satellite cells and defective myogenesis following injury with cardiotoxin (PMID 24065826: von Maltzahn et al. 2013).
Created: 20 Sep 2020, 10:44 p.m. | Last Modified: 20 Sep 2020, 10:44 p.m.
Panel Version: 0.267
Four unrelated families.
Sources: Expert list
Created: 9 Feb 2020, 10:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myopathy, congenital, progressive, with scoliosis, MIM# 618578

Publications

Created: 9 Feb 2020, 10:39 a.m.

Panel version: Imported from Myopathy - paediatric onset panel version 0.267

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Congenital myopathy 19 (MIM#618578)
OMIM
167410
Clinvar variants
Variants in PAX7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

1 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

9 May 2023, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: PAX7 was added gene: PAX7 was added to Muscular dystrophy_Paediatric. Sources: Other 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 Congenital myopathy 19 (MIM#618578) Review for gene: PAX7 was set to GREEN