Ataxia and cerebellar anomalies - narrow panel
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
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Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Ataxia,spastic2,autosomalrecessive(2)
- OMIM
- 167409
- Clinvar variants
- Variants in PAX2
- Penetrance
- None
- Panels with this gene
-
- Unexplained kidney failure in young people
- Retinal disorders
- DDG2P
- Ocular coloboma
- Adult onset neurodegenerative disorder
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Ductal plate malformation
- Cystic kidney disease
- Structural eye disease
- Monogenic hearing loss
- Hereditary ataxia
- Fetal anomalies
- Proteinuric renal disease
- Anophthalmia or microphthalmia
- Intellectual disability
- CAKUT
History Filter Activity
9 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Comment on list classification
19 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PAX2 was added gene: PAX2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: PAX2 was set to Unknown Phenotypes for gene: PAX2 were set to Ataxia,spastic2,autosomalrecessive(2)