Hereditary ataxia with onset in adulthood
Gene: PAX2EnsemblGeneIds (GRCh38): ENSG00000075891
EnsemblGeneIds (GRCh37): ENSG00000075891
OMIM: 167409, Gene2Phenotype
PAX2 is in 17 panels
3 reviews
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Phenotypes do not seem relevantCreated: 27 Apr 2019, 7:39 p.m.
Louise Daugherty (Genomics England Curator)
Review and rating submitted byJames Polke (London North GLH), on behalf of London North GLH for GMS Neurology specialist test groupCreated: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Looks like this was described as IOSCA (now known to be C10orf2). OMIM phenotypes are NOT linked to ataxia or cerebellar abnormalitiesCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Papillorenal syndrome, AR
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Red
- Hereditary ataxia v1.148
- Phenotypes
-
- Ataxia,spastic2,autosomal recessive
- Papillorenal syndrome, AR
- OMIM
- 167409
- Clinvar variants
- Variants in PAX2
- Penetrance
- None
- Panels with this gene
-
- Unexplained kidney failure in young people
- DDG2P
- Ocular coloboma
- Adult onset neurodegenerative disorder
- Retinal disorders
- 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
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: PAX2 were changed from Ataxia,spastic2,autosomalrecessive(2); Papillorenal syndrome, AR to Ataxia,spastic2,autosomal recessive; Papillorenal syndrome, AR
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: PAX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GMS was added to PAX2.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Papillorenal syndrome, AR for gene: PAX2
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to PAX2.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to PAX2.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Louise Daugherty: Comment on phenotypes: Implica
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: PAX2 was added gene: PAX2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: PAX2 was set to Unknown Phenotypes for gene: PAX2 were set to Ataxia,spastic2,autosomalrecessive(2)