Ataxia - paediatric
Gene: NKX2-1EnsemblGeneIds (GRCh38): ENSG00000136352
EnsemblGeneIds (GRCh37): ENSG00000136352
OMIM: 600635, Gene2Phenotype
NKX2-1 is in 12 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
These likely represent a single disorder.Created: 6 Apr 2022, 8:49 p.m. | Last Modified: 6 Apr 2022, 8:49 p.m.
Panel Version: 0.12644
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978; Chorea, hereditary benign MIM#118700
Bryony Thompson (Royal Melbourne Hospital)
Paediatric onset ataxia reported in greater than 3 families with the condition.Created: 17 Apr 2020, 2:59 a.m. | Last Modified: 17 Apr 2020, 2:59 a.m.
Panel Version: 0.175
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978; Chorea, hereditary benign MIM#118700
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Green
- Royal Melbourne Hospital
- Victorian Clinical Genetics Services
- Phenotypes
-
- Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978
- Choreoathetosis, hypothyroidism and neonatal respiratory distress, 610978
- Chorea, hereditary benign 118700
- Hereditary bening chorea, 118700
- OMIM
- 600635
- Clinvar variants
- Variants in NKX2-1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Congenital hypothyroidism
- Fetal anomalies
- Additional findings_Paediatric
- Pulmonary Fibrosis_Interstitial Lung Disease
- Incidentalome_PREGEN_DRAFT
- Dystonia - complex
- Mendeliome
- BabyScreen+ newborn screening
- Interstitial Lung Disease
- Intellectual disability syndromic and non-syndromic
- Ataxia - paediatric
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: nkx2-1 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: NKX2-1 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: NKX2-1 was added gene: NKX2-1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: NKX2-1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: NKX2-1 were set to Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978; Choreoathetosis, hypothyroidism and neonatal respiratory distress, 610978; Chorea, hereditary benign 118700; Hereditary bening chorea, 118700