Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: NKX2-1

Amber List (moderate evidence)

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

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least five variants reported in unrelated cases of Choreoathetosis, hypothyroidism, and neonatal respiratory distress OMIM:610978.
Created: 27 Apr 2021, 4:20 p.m. | Last Modified: 27 Apr 2021, 4:20 p.m.
Panel Version: 2.143
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 27 Apr 2021, 4:17 p.m. | Last Modified: 27 Apr 2021, 4:17 p.m.
Panel Version: 2.143

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress OMIM
  • hereditary progressive chorea without dementia MONDO:0021011:610978
  • brain-lung-thyroid syndrome MONDO:0012593
  • Chorea, hereditary benign OMIM:118700
Tags
Q2_21_rating
OMIM
600635
Clinvar variants
Variants in NKX2-1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Apr 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: NKX2-1.

27 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: nkx2-1 has been classified as Amber List (Moderate Evidence).

27 Apr 2021, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: NKX2-1 were changed from Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978; Chorea, hereditary benign MIM#118700 to Choreoathetosis, hypothyroidism, and neonatal respiratory distress OMIM; hereditary progressive chorea without dementia MONDO:0021011:610978; brain-lung-thyroid syndrome MONDO:0012593; Chorea, hereditary benign OMIM:118700

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