Brain channelopathy

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

1 review

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

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 phenotype
Created: 22 Feb 2017, 2:57 p.m.
Phenotypic overlap with PKD
Created: 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

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