Neonatal diabetes
Gene: NKX2-2
Comment on phenotypes: Previous phenotypes:
Neonatal diabetes;Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairmentCreated: 3 Mar 2021, 2:29 p.m. | Last Modified: 3 Mar 2021, 2:29 p.m.
Panel Version: 2.23
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: NKX2-2; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment.Created: 11 Jan 2019, 4:27 p.m.
We have identified no additional patients so far (only those reported in PMID:24411943).Created: 29 May 2017, 8:34 a.m.
Comment when marking as ready: Marked as ready: May 30th 2017.Created: 30 May 2017, 9:53 a.m.
Comment on list classification: Updated rating from Red to Green after internal clinical discussion: Green expert review. 3 cases from 2 families, plus green on multiple diabetes PanelApp panels.Created: 30 May 2017, 9:53 a.m.
Comment on mode of inheritance: Biallelic mode of inheritance supported by literature (PMID:24411943).Created: 24 Apr 2017, 2 p.m.
PMID:24411943 (Flanagan et al., 2014) report 3 patients from 2 families with diabetes in infancy, and homozygous missense mutations in NKX2-2.Created: 24 Apr 2017, 1:51 p.m.
Tag gene-checked tag was added to gene: NKX2-2.
Phenotypes for gene: NKX2-2 were changed from Neonatal diabetes; Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment to Neonatal diabetes mellitus, MONDO:0016391; Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment
Phenotypes for gene: NKX2-2 were changed from Neonatal diabetes to Neonatal diabetes; Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment
Source NHS GMS was added to NKX2-2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted panel to Version 1: 31st May 2017. This panel is largely aligned with the Exeter Molecular Genetics Laboratory neonatal diabetes screen. Note that 8 genes feature on the Exeter 8-gene panel for patients with 'neonatal diabetes and autoimmune disease' (FOXP3, IL2RA, ITCH, LRBA, SIRT1, STAT1, STAT3 and STAT5). ITCH, SIRT1, STAT1 and STAT5A/B do not feature on this panel following correspondance with Elisa De-Franco (University of Exeter Medical School) that, at the time of curation, none of the patients with mutations in ITCH, SIRT1, STAT1 and STAT5b had diabetes diagnosed in the neonatal period, and therefore there is currently insufficient evidence to include these genes in this neonatal diabetes panel.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for NKX2-2 were set to Neonatal diabetes
Mode of inheritance for NKX2-2 was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for NKX2-2 were set to 24411943
NKX2-2 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene NKX2-2 was changed to BIALLELIC, autosomal or pseudoautosomal
NKX2-2 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: UKGTN