Hereditary ataxia with onset in adulthood
Gene: NKX6-2EnsemblGeneIds (GRCh38): ENSG00000148826
EnsemblGeneIds (GRCh37): ENSG00000148826
OMIM: 605955, Gene2Phenotype
NKX6-2 is in 14 panels
2 reviews
Louise Daugherty (Genomics England Curator)
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.
Tracy Lester (Genetics laboratory, Oxford UK)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
- Phenotypes
-
- Autosomal recessive spastic ataxia 8 with hypomyelinating leukodystrophy, 617560
- Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560
- OMIM
- 605955
- Clinvar variants
- Variants in NKX6-2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- White matter disorders and cerebral calcification - narrow panel
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- DDG2P
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Inherited white matter disorders
- Fetal anomalies
History Filter Activity
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Autosomal recessive spastic ataxia 8 with hypomyelinating leukodystrophy, 617560 for gene: NKX6-2
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to NKX6-2.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to NKX6-2.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked panel against panel constituents. Ready to promote to version 1.
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 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