Brain channelopathy
Gene: NKX2-1
NKX2-1 (NK2 homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000136352
EnsemblGeneIds (GRCh37): ENSG00000136352
OMIM: 600635, Gene2Phenotype
NKX2-1 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000136352
EnsemblGeneIds (GRCh37): ENSG00000136352
OMIM: 600635, Gene2Phenotype
NKX2-1 is in 18 panels
1 review
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: Marked as red as suggested by the expert reviewer Dr Matthews (UCL Institute of Neurology) - as not relevant to the phenotypeCreated: 22 Feb 2017, 2:57 p.m.
Phenotypic overlap with PKDCreated: 23 Jan 2017, 3:05 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Chorea, hereditary benign 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Expert Review
- Phenotypes
-
- Chorea, hereditary benign 118700
- Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978
- OMIM
- 600635
- Clinvar variants
- Variants in NKX2-1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Paediatric pseudo-obstruction syndrome
- Pituitary hormone deficiency
- Neurodegenerative disorders, adult onset
- Familial pulmonary fibrosis
- Fetal anomalies
- Familial Hirschsprung Disease
- Ataxia and cerebellar anomalies - childhood onset
- Childhood interstitial lung disease
- 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
- DDG2P
- Brain channelopathy
- Hereditary ataxia, adult onset
- Paroxysmal central nervous system disorders
History Filter Activity
22 Feb 2017, Gel status: 1
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
22 Feb 2017, Gel status: 1
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
23 Jan 2017, Gel status: 0
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1. January 23 2017
23 Jan 2017, Gel status: 0
Added New Source
Arianna Tucci (Genomics England Curator)NKX2-1 was added to Brain channelopathypanel. Sources: Expert Review
23 Jan 2017, Gel status: 0
Created
Arianna Tucci (Genomics England Curator)NKX2-1 was created by arianna