This Panel is marked as Deleted
Kidneyome_SuperPanel_KidGen_VCGS
Gene: PAX2
PAX2 (paired box 2)
EnsemblGeneIds (GRCh38): ENSG00000075891
EnsemblGeneIds (GRCh37): ENSG00000075891
OMIM: 167409, Gene2Phenotype
PAX2 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000075891
EnsemblGeneIds (GRCh37): ENSG00000075891
OMIM: 167409, Gene2Phenotype
PAX2 is in 17 panels
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Phenotypes
-
- Glomerulosclerosis, focal segmental, 7, MIM#616002
- OMIM
- 167409
- Clinvar variants
- Variants in PAX2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Structural eye disease
- Fetal anomalies
- Retinal disorders
- CAKUT
- Anophthalmia or microphthalmia
- Cystic kidney disease
- Hereditary ataxia
- Ataxia and cerebellar anomalies - narrow panel
- Ocular coloboma
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Monogenic hearing loss
- Adult onset neurodegenerative disorder
- Unexplained kidney failure in young people
- Ductal plate malformation
- DDG2P
- Proteinuric renal disease
History Filter Activity
24 Dec 2019, Gel status: 3
Set Phenotypes
Ivone Leong (Genomics England Curator)Added phenotypes Glomerulosclerosis, focal segmental, 7, MIM#616002 for gene: PAX2
23 Dec 2019, Gel status: 3
Set mode of inheritance, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Mode of inheritance for gene PAX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Glomerulosclerosis, focal segmental, 7, MIM#616002 for gene: PAX2 Publications for gene PAX2 were changed from to 24676634
23 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: PAX2 was added gene: PAX2 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PAX2 was set to Unknown