DEMO Diabetes neonatal onset
Gene: NKX2-2
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.
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.
gene: NKX2-2 was added gene: NKX2-2 was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Eligibility statement prior genetic testing,UKGTN Mode of inheritance for gene: NKX2-2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NKX2-2 were set to 24411943 Phenotypes for gene: NKX2-2 were set to Neonatal diabetes; Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment