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Mendeliome

Gene: NKX2-1

Green List (high evidence)

NKX2-1 (NK2 homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000136352
EnsemblGeneIds (GRCh37): ENSG00000136352
OMIM: 600635, Gene2Phenotype
NKX2-1 is in 12 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

These likely represent a single disorder.
Created: 6 Apr 2022, 8:49 p.m. | Last Modified: 6 Apr 2022, 8:49 p.m.
Panel Version: 0.12644

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978; Chorea, hereditary benign MIM#118700

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Paediatric onset ataxia reported in greater than 3 families with the condition.
Created: 17 Apr 2020, 2:59 a.m. | Last Modified: 17 Apr 2020, 2:59 a.m.
Panel Version: 0.175

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978; Chorea, hereditary benign MIM#118700

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978
  • Chorea, hereditary benign MIM#118700
OMIM
600635
Clinvar variants
Variants in NKX2-1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nkx2-1 has been classified as Green List (High Evidence).

28 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NKX2-1 were changed from to Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978; Chorea, hereditary benign MIM#118700

28 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NKX2-1 were set to

28 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NKX2-1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NKX2-1 was added gene: NKX2-1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NKX2-1 was set to Unknown