Hereditary ataxiaGene: NKX6-2
Associated with phenotype in OMIM, not in G2P. At least 2 variants reported in three apparently unrelated families, segregation with condition demonstrated. Haplotype analysis revealed founder effect for p.Lys41* in two of the families (four regions of homozygosity shared by the three affected individuals, included a 1.4 M region containing NKX6-2 on chromosome 10)(PMID 28575651). Supporting functional studies and animal model also (PMID 15601927)
Created: 17 Aug 2017, 10:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560
This gene has been classified as Green List (High Evidence).
NKX6-2 was created by sleigh
NKX6-2 was added to Hereditary ataxiapanel. Sources: Literature