Ataxia and cerebellar anomalies - narrow panel
Gene: NKX2-1
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
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
Paediatric onset ataxia reported in greater than 3 families with the condition.
Sources: Expert listCreated: 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
Tag Q2_21_rating was removed from gene: NKX2-1.
Source Expert Review Green was added to NKX2-1. Source NHS GMS was added to NKX2-1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_21_rating tag was added to gene: NKX2-1.
Gene: nkx2-1 has been classified as Amber List (Moderate Evidence).
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
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