Neurodegenerative disorders, adult onset
Gene: NKX2-1EnsemblGeneIds (GRCh38): ENSG00000136352
EnsemblGeneIds (GRCh37): ENSG00000136352
OMIM: 600635, Gene2Phenotype
NKX2-1 is in 18 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Onset at birthCreated: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Chorea, hereditary benign 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Yorkshire and North East GLH
- Expert Review Red
- Phenotypes
-
- Chorea, hereditary benign 118700
- Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978
- OMIM
- 600635
- Clinvar variants
- Variants in NKX2-1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Paediatric pseudo-obstruction syndrome
- Ataxia and cerebellar anomalies - childhood onset
- Pituitary hormone deficiency
- Familial pulmonary fibrosis
- Familial Hirschsprung Disease
- Fetal anomalies
- Childhood interstitial lung disease
- Neurodegenerative disorders, adult onset
- Intellectual disability
- Congenital hypothyroidism
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Pulmonary Fibrosis, Familial
- Inherited non-medullary thyroid cancer
- Brain channelopathy
- Hereditary ataxia, adult onset
- DDG2P
- Paroxysmal central nervous system disorders
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to NKX2-1.
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to NKX2-1.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Gene awaiting curator evaluati
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: NKX2-1 was added gene: NKX2-1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NKX2-1 were set to 24555207 Phenotypes for gene: NKX2-1 were set to Chorea, hereditary benign 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978