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Intellectual disability syndromic and non-syndromic

Gene: PAX7

Red List (low evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

ID is not part of the phenotype.
Created: 9 Feb 2020, 10:34 a.m. | Last Modified: 9 Feb 2020, 10:34 a.m.
Panel Version: 0.2084

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Myopathy, congenital, progressive, with scoliosis, MIM# 618578
OMIM
167410
Clinvar variants
Variants in PAX7
Penetrance
None
Panels with this gene

History Filter Activity

9 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Feb 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PAX7 were changed from to Myopathy, congenital, progressive, with scoliosis, MIM# 618578

9 Feb 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PAX7 was added gene: PAX7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PAX7 was set to Unknown