Paroxysmal central nervous system disorders
Gene: NKX2-1EnsemblGeneIds (GRCh38): ENSG00000136352
EnsemblGeneIds (GRCh37): ENSG00000136352
OMIM: 600635, Gene2Phenotype
NKX2-1 is in 18 panels
5 reviews
Robyn Labrum (UCLH NHS Trust)
Better on movement disorders (chorea) panelCreated: 23 Sep 2019, 3:56 p.m. | Last Modified: 23 Sep 2019, 3:56 p.m.
Panel Version: 0.97
Penny Clouston (Oxford)
Clinical overlap with ADCY5, PDE10A & PDE2A?Created: 23 Sep 2019, 12:51 p.m. | Last Modified: 23 Sep 2019, 12:51 p.m.
Panel Version: 0.95
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Rebecca Foulger (Genomics England curator)
Review and rating from Robyn Labrum (University College London Hospitals) was collated (September 19th 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. Suggested rating: Red.Created: 23 Sep 2019, 3:57 p.m. | Last Modified: 23 Sep 2019, 3:57 p.m.
Panel Version: 0.98
Review and rating from Penny Clouston (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (September 19th 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group. Re-review of a subset of genes was conducted in September 2019 to reach a rating consensus for clinical indication R66: Paroxysmal central nervous system disorders. A question mark was submitted for the rating, therefore I uploaded an Amber review from Penny Clouston.Created: 23 Sep 2019, 12:53 p.m. | Last Modified: 23 Sep 2019, 12:53 p.m.
Panel Version: 0.96
Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23
Tracy Lester (Genetics laboratory, Oxford UK)
Not paroxysmal?Created: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Chorea, hereditary benign, 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- London North GLH
- Wessex and West Midlands GLH
- Expert Review Red
- Phenotypes
-
- Chorea, hereditary benign 118700
- Choreoathetosis, hypothyroidism, and neonatal respiratory distress
- OMIM
- 600635
- Clinvar variants
- Variants in NKX2-1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Familial pulmonary fibrosis
- Intellectual disability
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Adult onset neurodegenerative disorder
- Surfactant deficiency
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Pulmonary fibrosis familial
- Inherited non-medullary thyroid cancer
- Brain channelopathy
- Fetal anomalies
- Congenital hypothyroidism
- Pituitary hormone deficiency
- Paroxysmal central nervous system disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set publications
Rebecca Foulger (Genomics England curator)Publications for gene: NKX2-1 were set to 24555207
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to NKX2-1.
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to NKX2-1.
Added New Source
Rebecca Foulger (Genomics England curator)Source Wessex and West Midlands GLH was added to NKX2-1.
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Chorea, hereditary benign 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress for gene: NKX2-1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: NKX2-1 was added gene: NKX2-1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. 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