This Panel is marked as Internal
Dystonia - childhood onset
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560
- OMIM
- 605955
- Clinvar variants
- Variants in NKX6-2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Fetal anomalies
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Hereditary ataxia
- DDG2P
- Inherited white matter disorders
- Adult onset hereditary spastic paraplegia
- White matter disorders and cerebral calcification - narrow panel
- Ataxia and cerebellar anomalies - narrow panel
- Childhood onset hereditary spastic paraplegia
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: NKX6-2 was added gene: NKX6-2 was added to Dystonia - childhood onset. Sources: 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