Hereditary ataxia - adult onsetGene: PEX16
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.
Lots of cases in literature
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Peroxisome biogenesis disorder 8A, 614876 and 8B, 614877
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Peroxisome biogenesis disorder 8B, 614877; Peroxisome biogenesis disorder 8A, 614876 for gene: PEX16
Source NHS GMS was added to PEX16.
Source Wessex and West Midlands GLH was added to PEX16.
Checked panel against panel constituents. Ready to promote to version 1.
gene: PEX16 was added gene: PEX16 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PEX16 were set to Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis; Zellweger syndrome (614876)