Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: NKX2-1

No list

NKX2-1 (NK2 homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000136352
EnsemblGeneIds (GRCh37): ENSG00000136352
OMIM: 600635, Gene2Phenotype
NKX2-1 is in 16 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Paediatric onset ataxia reported in greater than 3 families with the condition.
Sources: Expert list
Created: 12 Sep 2020, 6:36 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978; Chorea, hereditary benign MIM#118700

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

12 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: NKX2-1 was added gene: NKX2-1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NKX2-1 were set to 10931427; 27066577; 26839702; 26103969 Phenotypes for gene: NKX2-1 were set to Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978; Chorea, hereditary benign MIM#118700 Review for gene: NKX2-1 was set to GREEN gene: NKX2-1 was marked as current diagnostic