Hereditary ataxia
Gene: NKX6-2
NKX6-2 (NK6 homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000148826
EnsemblGeneIds (GRCh37): ENSG00000148826
OMIM: 605955, Gene2Phenotype
NKX6-2 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000148826
EnsemblGeneIds (GRCh37): ENSG00000148826
OMIM: 605955, Gene2Phenotype
NKX6-2 is in 14 panels
1 review
Sarah Leigh (Genomics England Curator)
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
Phenotypes
Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, OMIM:617560
- OMIM
- 605955
- Clinvar variants
- Variants in NKX6-2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- DDG2P
- Fetal anomalies
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Inherited white matter disorders
History Filter Activity
19 Aug 2021, Gel status: 3
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: NKX6-2 were changed from Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, OMIM:617560
17 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).
17 Aug 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)NKX6-2 was created by sleigh
17 Aug 2017, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)NKX6-2 was added to Hereditary ataxiapanel. Sources: Literature