Hereditary ataxia with onset in adulthood
Gene: NKX6-2
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 families and variants reportedCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive spastic ataxia 8 with hypomyelinating leukodystrophy, 617560
Added phenotypes Autosomal recessive spastic ataxia 8 with hypomyelinating leukodystrophy, 617560 for gene: NKX6-2
Source NHS GMS was added to NKX6-2.
Source Wessex and West Midlands GLH was added to NKX6-2.
Checked panel against panel constituents. Ready to promote to version 1.
gene: NKX6-2 was added gene: NKX6-2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NKX6-2 were set to 15601927; 28575651 Phenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560