This Panel is marked as Deleted
GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
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
Emily Jones (North Bristol NHS Trust)
Well described syndrome. PMID 24714694 assessed the phenotype; chorea or athetosis present in all, can have movement disorder only.Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- South West GLH
- Phenotypes
-
- Chorea, hereditary benign 118700
- Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978
- OMIM
- 600635
- Clinvar variants
- Variants in NKX2-1
- Penetrance
- None
- Panels with this gene
-
- Pulmonary fibrosis familial
- Hereditary ataxia with onset in adulthood
- Familial pulmonary fibrosis
- DDG2P
- Fetal anomalies
- Intellectual disability
- Childhood interstitial lung disease
- Familial Hirschsprung Disease
- Paediatric pseudo-obstruction syndrome
- Paroxysmal central nervous system disorders
- Pituitary hormone deficiency
- Adult onset neurodegenerative disorder
- Congenital hypothyroidism
- Childhood onset dystonia, chorea or related movement disorder
- Inherited non-medullary thyroid cancer
- Brain channelopathy
- Adult onset dystonia, chorea or related movement disorder
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
9 Jul 2019, Gel status: 3
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene NKX2-1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Chorea, hereditary benign 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978 for gene: NKX2-1
2 Apr 2019, Gel status: 3
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to NKX2-1. Rating Changed from Red List (low evidence) to Green List (high evidence)
2 Apr 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: NKX2-1 was added gene: NKX2-1 was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: NKX2-1 was set to