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Newborns main panel

Gene: NKX2-2

Amber List (moderate evidence)
NKX2-2 (NK2 homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000125820
EnsemblGeneIds (GRCh37): ENSG00000125820
OMIM: 604612, Gene2Phenotype
NKX2-2 is in 5 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 24411943 - 3 patient in 2 families PMID: 32818257 - 1 patient
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Neonatal diabetes syndromic - No phenotype in OMIM
OMIM
604612
Clinvar variants
Variants in NKX2-2
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to NKX2-2. Added phenotypes Neonatal diabetes syndromic - No phenotype in OMIM for gene: NKX2-2 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to NKX2-2. Added phenotypes Neonatal diabetes syndromic - No phenotype in OMIM for gene: NKX2-2 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 Jun 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: NKX2-2 were changed from Neonatal diabetes syndromic No phenotype on OMIM; Neonatal diabetes syndromic - No phenotype in OMIM to Neonatal diabetes syndromic - No phenotype in OMIM

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to NKX2-2. Added phenotypes Neonatal diabetes syndromic - No phenotype in OMIM for gene: NKX2-2 Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to NKX2-2. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Neonatal diabetes syndromic No phenotype on OMIM for gene: NKX2-2

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: NKX2-2 was added gene: NKX2-2 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: NKX2-2 was set to BIALLELIC, autosomal or pseudoautosomal