Hereditary ataxia with onset in adulthood
Gene: EXOSC3
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.
Multiple reports in the literatureCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 1B, 614678
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: EXOSC3 were changed from Pontocerebellar hypoplasia type 1B, 614678; Pontocerebellar hypoplasia, type 1B, 614678 to Pontocerebellar hypoplasia, type 1B, OMIM:614678
Added phenotypes Pontocerebellar hypoplasia type 1B, 614678 for gene: EXOSC3
Source NHS GMS was added to EXOSC3.
Source Wessex and West Midlands GLH was added to EXOSC3.
Checked panel against panel constituents. Ready to promote to version 1.
Phenotypes for gene: EXOSC3 were changed from to Pontocerebellar hypoplasia, type 1B, 614678
gene: EXOSC3 was added gene: EXOSC3 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal