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