Hereditary spastic paraplegia

Gene: NKX6-2

Green List (high evidence)

NKX6-2 (NK6 homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000148826
EnsemblGeneIds (GRCh37): ENSG00000148826
OMIM: 605955, Gene2Phenotype
NKX6-2 is in 15 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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: 22 Aug 2017, 9:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560

Publications

History Filter Activity

22 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 Aug 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

NKX6-2 was added to Hereditary spastic paraplegiapanel. Sources: Literature

22 Aug 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

NKX6-2 was created by sleigh