Hereditary ataxia with onset in adulthood
Gene: PNKP
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 literature, both OMIM phenotypes associated with cerebellar atrophy and ataxiaCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia-oculomotor apraxia 4, 616267, Microcephaly, seizures and developmental delay, 613402
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Ataxia-oculomotor apraxia 4, 616267; Microcephaly, seizures and developmental delay, 613402 for gene: PNKP
Source NHS GMS was added to PNKP.
Source Wessex and West Midlands GLH was added to PNKP.
Checked panel against panel constituents. Ready to promote to version 1.
gene: PNKP was added gene: PNKP was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNKP were set to Ataxia with oculomotor apraxia 4 (#616267)