Monogenic diabetes

Gene: NKX2-2

No list

NKX2-2 (NK2 homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000125820
EnsemblGeneIds (GRCh37): ENSG00000125820
OMIM: 604612, Gene2Phenotype
NKX2-2 is in 6 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
OMIM
604612
Clinvar variants
Variants in NKX2-2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 0

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Gene changed to grey status af

25 Jan 2019, Gel status: 0

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

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

18 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

gene: NKX2-2 was added gene: NKX2-2 was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: NKX2-2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NKX2-2 were set to 24411943