Familial diabetes

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 5 panels

3 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Gene changed to grey status after consultation with Professor Sian Ellard (South West GLH) that this gene is not appropriate for the panel.
Created: 25 Jan 2019, 11:49 a.m.

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to expert review and from literature search.
Created: 15 Jun 2016, 2:54 p.m.

Details

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

History Filter Activity

15 Jun 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).

15 Jun 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

15 Jun 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).

15 Jun 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for NKX2-2 were set to 24411943

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

NKX22* was added to Familial diabetespanel. Sources: UKGTN