Hereditary ataxia with onset in adulthood
Gene: NKX2-1

NKX2-1 (NK2 homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000136352
EnsemblGeneIds (GRCh37): ENSG00000136352
OMIM: 600635, Gene2Phenotype
NKX2-1 is in 18 panels

4 reviews

Mafalda Gomes (Genomics England Curator)

The mode of inheritance of this gene has been updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 2:30 p.m. | Last Modified: 1 Feb 2023, 2:30 p.m.

Panel Version: 3.10

Created: 1 Feb 2023, 2:30 p.m.
Last Modified: 1 Feb 2023, 2:30 p.m.
Panel version: 3.10

Sarah Leigh (Genomics England Curator)

It would appear that the concensus is that diseases associated with NKX2-1 variants are seen only in heterozgyotes: OMIM:118700, OMIM:610978, OMIM:188550 (OMIM page last edited 3rd February 2022), Gen2Phen: Choreoathetosis, hypothyroidism, and neonatal respiratory distress and brain-lung-thyroid syndrome MONDO:0012593.
Created: 1 Mar 2022, 6:12 p.m. | Last Modified: 1 Mar 2022, 6:12 p.m.

Panel Version: 2.139

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 1 Mar 2022, 6:12 p.m.
Last Modified: 1 Mar 2022, 6:12 p.m.
Panel version: 2.139

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Created: 15 Apr 2019, 10:21 a.m.

Panel version: 1.8

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Both AR and AD forms reported widely in the literature, ataxia reported in AR and 'Gait abnormalities' in AD
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Hereditary bening chorea, 118700; Choreoathetosis, hypothyroidism and neonatal respiratory distress, 610978

Created: 15 Apr 2019, 10:06 a.m.

Panel version: 1.7

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS
Wessex and West Midlands GLH
Brain channelopathy v1.46

Phenotypes

Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978
Chorea, hereditary benign 118700
Hereditary bening chorea, 118700
Choreoathetosis, hypothyroidism and neonatal respiratory distress, 610978

OMIM

600635

Clinvar variants

Variants in NKX2-1

Penetrance

None

Publications

24555207

Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag

Mafalda Gomes (Genomics England Curator)

Tag Q1_22_MOI was removed from gene: NKX2-1.

1 Feb 2023, Gel status: 3

Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

Mode of inheritance for gene NKX2-1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Mar 2022, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q1_22_MOI tag was added to gene: NKX2-1.

27 Apr 2019, Gel status: 3