Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: PAX7

Red List (low evidence)

PAX7 (paired box 7)
EnsemblGeneIds (GRCh38): ENSG00000009709
EnsemblGeneIds (GRCh37): ENSG00000009709
OMIM: 167410, Gene2Phenotype
PAX7 is in 6 panels

2 reviews

Konstantinos Varvagiannis (Other)

Red List (low evidence)

From Feichtinger et al - PMID: 31092906 : "Cognitive development, socialization, and behavior are normal in all patients".
Created: 20 Sep 2019, 6:06 p.m. | Last Modified: 20 Sep 2019, 6:14 p.m.
Panel Version: 2.1033

Publications

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Comment on list classification: downgraded to Red again, this gene is not pertinent. I have left the gene on the panel as the gene is on the ID panel from the Victorian Clinical Genetics Services
Created: 20 Sep 2019, 6:16 p.m. | Last Modified: 20 Sep 2019, 6:21 p.m.
Panel Version: 2.1035
changed rating agree with external reviewer (Konstantinos Varvagiannis this gene is RED for ID but GREEN for Neuromuscular disorders
Created: 20 Sep 2019, 6:15 p.m. | Last Modified: 20 Sep 2019, 6:15 p.m.
Panel Version: 2.1033
Comment on publications: Added publication to support gene-disease association
Created: 20 Sep 2019, 5:20 p.m. | Last Modified: 20 Sep 2019, 5:20 p.m.
Panel Version: 2.1032
Comment on list classification: New gene added by external expert (Cristina Dias (The Francis Crick Institute) ) on Neuromuscular disorders panel v1.6 and reviewed by curation 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: 20 Sep 2019, 5:19 p.m. | Last Modified: 20 Sep 2019, 5:19 p.m.
Panel Version: 2.1031
from review by Cristina Dias (The Francis Crick Institute) on Neuromuscular disorders panel Green List (high evidence)
Feichtinger et. al. report four independent consanguineous families with four different (homozygous) mutations in PAX7.
Created: 17 Sep 2019, 8:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypotonia; Axial hypotonia; Ptosis; Scoliosis; Delayed motor milestones
Publications
31092906
Created: 17 Sep 2019, 8:48 a.m.
Panel version: 1.6
Created: 20 Sep 2019, 5:16 p.m. | Last Modified: 20 Sep 2019, 5:16 p.m.
Panel Version: 2.1029

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
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

20 Sep 2019, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: pax7 has been classified as Red List (Low Evidence).

20 Sep 2019, Gel status: 0

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: pax7 has been removed from the panel.

20 Sep 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: PAX7 were changed from to Hypotonia; Axial hypotonia; Ptosis; Scoliosis; Delayed motor milestones; Myopathy, congenital, progressive, with scoliosis, 618578

20 Sep 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: PAX7 were set to

20 Sep 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).

20 Sep 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: PAX7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

20 Sep 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: PAX7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

20 Sep 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: PAX7 was changed from to BIALLELIC, autosomal or pseudoautosomal

29 Sep 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: PAX7 was added gene: PAX7 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services Mode of inheritance for gene: PAX7 was set to