Diabetes with additional phenotypes suggestive of a monogenic aetiology

Gene: NKX2-2

Green List (high evidence)

NKX2-2 (NK2 homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000125820
EnsemblGeneIds (GRCh37): ENSG00000125820
OMIM: 604612, Gene2Phenotype
NKX2-2 is in 6 panels

2 reviews

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to expert review and from literature search.
Created: 22 Jul 2016, 12:14 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
OMIM
604612
Clinvar variants
Variants in NKX2-2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

25 Jul 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.

22 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 Jul 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for NKX2-2 were set to 24411943

22 Jul 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for NKX2-2 were set to Flanagan et al 2014 Cell Metab 19:146-154; 24411943

22 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Aug 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene NKX2-2 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene NKX2-2 was changed to BIALLELIC, autosomal or pseudoautosomal

17 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NKX2-2 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: UKGTN