Ataxia and cerebellar anomalies - narrow panel
Gene: NKX6-2

NKX6-2 (NK6 homeobox 2)
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, OMIM:617560

OMIM

605955

Clinvar variants

Variants in NKX6-2

Penetrance

None

Publications

Panels with this gene

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 to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, OMIM:617560

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

Ellen McDonagh (Genomics England Curator)

gene: NKX6-2 was added gene: NKX6-2 was added to Ataxia and cerebellar anomalies - narrow panel. 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

Ataxia and cerebellar anomalies - narrow panel Gene: NKX6-2