DEMO Diabetes neonatal onset
Gene: MNX1
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: MNX1; 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: Recessive Neonatal diabetes; IUGR; w w/o eaturesof Currarrino syndrome and sacral agenesis.Created: 11 Jan 2019, 4:27 p.m.
After the paper by Flanagan et al, we identified one additional patient with a homozygous MNX1 mutation.Created: 29 May 2017, 8:34 a.m.
Comment when marking as ready: Marked as Ready: 29th May 2017.Created: 29 May 2017, 8:38 a.m.
Comment on list classification: Updated rating from Red to Green: Green expert review. 2 cases reported in Flanagan plus 1 additional patient reported by Elisa de Franco as part of Exeter neonatal diabetes screen.Created: 29 May 2017, 8:38 a.m.
Comment on mode of inheritance: Biallelic mode of inheritance supported by the literature (PMID:24411943).Created: 24 Apr 2017, 1:42 p.m.
PMID:24411943 (Flanagan et al., 2014) report 2 probands diagnosed with diabetes in infancy with homozygous missense mutations in MNX1 (p.F248L and p.F272L). Bonnefond et al. (2013, PMID:23562494) independently found the same MNX1 p.F272L mutation in proband 2.Created: 24 Apr 2017, 1:42 p.m.
Comment on list classification: Promoted from red to green due to expert review.Created: 15 Jun 2016, 2:34 p.m.
gene: MNX1 was added gene: MNX1 was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Eligibility statement prior genetic testing,UKGTN Mode of inheritance for gene: MNX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MNX1 were set to 23562494; 24411943 Phenotypes for gene: MNX1 were set to IUGR; Neonatal Diabetes; w w/o eatures of Currarrino syndrome and sacral agenesis; Permanent neonatal diabetes mellitus (PNDM); Recessive Neonatal diabetes; Currarino syndrome, 176450