Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Deafness_IsolatedAndComplex

Gene: PAX1

Green List (high evidence)

PAX1 (paired box 1)
EnsemblGeneIds (GRCh38): ENSG00000125813
EnsemblGeneIds (GRCh37): ENSG00000125813
OMIM: 167411, Gene2Phenotype
PAX1 is in 4 panels

1 review

Lilian Downie (Victorian Clinical Genetics Services)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
otofaciocervical syndrome

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Otofaciocervical syndrome 2, MIM# 615560
OMIM
167411
Clinvar variants
Variants in PAX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pax1 has been classified as Green List (High Evidence).

29 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PAX1 were changed from to Otofaciocervical syndrome 2, MIM# 615560

29 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PAX1 were set to

29 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PAX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PAX1 was added gene: PAX1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: PAX1 was set to Unknown