Hereditary ataxia with onset in adulthood
Gene: PAX6
Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene RedCreated: 19 Sep 2019, 1:12 p.m. | Last Modified: 19 Sep 2019, 1:12 p.m.
Panel Version: 1.198
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.
OMIM associated phenotypes do not include ataxia or cerebellar malformations as phenotype. Very limited evidence in lit for Gillespie syndrome - predominant genetic cause for this is now accepted as de novo variation within ITPR1Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Aniridia, 106210
Gene: pax6 has been classified as Red List (Low Evidence).
Added phenotypes Aniridia, 106210 for gene: PAX6
Source NHS GMS was added to PAX6.
Source Wessex and West Midlands GLH was added to PAX6.
Checked panel against panel constituents. Ready to promote to version 1.
gene: PAX6 was added gene: PAX6 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: PAX6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PAX6 were set to Aniridia, Cerebellar Ataxia, And Mental Retardation