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Dystonia - complex

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 8 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

A spectrum of progressive neurological manifestations including visual and hearing impairment, dystonia in the upper limbs and abnormal brain MRI imaging.

Established gene-disease association with reported individuals presenting with limb dystonia and either homozygous or compound heterozygous mutations in NKX6-2.
Created: 10 Dec 2024, 12:08 a.m. | Last Modified: 10 Dec 2024, 12:08 a.m.
Panel Version: 0.254

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MONDO:0033043

Publications

Created: 10 Dec 2024, 12:08 a.m.
Last Modified: 10 Dec 2024, 12:08 a.m.
Panel version: 0.254

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MIM#617560
OMIM
605955
Clinvar variants
Variants in NKX6-2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nkx6-2 has been classified as Green List (High Evidence).

10 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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 MIM#617560

10 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NKX6-2 were set to

27 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: NKX6-2 was added gene: NKX6-2 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560