Hereditary ataxiaGene: PNKP
Number of families - however disparate phenotypes even with same variant.
Created: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ataxia with oculomotor apraxia 4 (#616267)
Variants in this GENE are reported as part of current diagnostic practice
This gene has been classified as Green List (High Evidence).
PNKP was created by jonathan.williams
PNKP was added to Hereditary ataxiapanel. Sources: Expert Review