Hereditary ataxia with onset in adulthood
Gene: PAX2
Phenotypes do not seem relevantCreated: 27 Apr 2019, 7:39 p.m.
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.
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
Phenotypes for gene: PAX2 were changed from Ataxia,spastic2,autosomalrecessive(2); Papillorenal syndrome, AR to Ataxia,spastic2,autosomal recessive; Papillorenal syndrome, AR
Mode of inheritance for gene: PAX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source London North GMS was added to PAX2.
Added phenotypes Papillorenal syndrome, AR for gene: PAX2
Source NHS GMS was added to PAX2.
Source Wessex and West Midlands GLH was added to PAX2.
Louise Daugherty: Comment on phenotypes: Implica
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)