Paroxysmal central nervous system disorders

Gene: NKX2-1

Red List (low evidence)

NKX2-1 (NK2 homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000136352
EnsemblGeneIds (GRCh37): ENSG00000136352
OMIM: 600635, Gene2Phenotype
NKX2-1 is in 16 panels

5 reviews

Robyn Labrum (UCLH NHS Trust)

Red List (low evidence)

Better on movement disorders (chorea) panel
Created: 23 Sep 2019, 3:56 p.m. | Last Modified: 23 Sep 2019, 3:56 p.m.
Panel Version: 0.97

Penny Clouston (Oxford)

I don't know

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)

Red List (low evidence)

Rebecca Foulger (Genomics England curator)

I don't know

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)

I don't know

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

History Filter Activity

1 Oct 2019, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: NKX2-1 were set to 24555207

2 Sep 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to NKX2-1.

2 Sep 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to NKX2-1.

2 Sep 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to NKX2-1.

3 Jan 2019, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Chorea, hereditary benign 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress for gene: NKX2-1

3 Jan 2019, Gel status: 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