Neonatal diabetes
Gene: MNX1
Comment on phenotypes: Previous phenotype:
Neonatal Diabetes;Permanent neonatal diabetes mellitus (PNDM);Recessive Neonatal diabetes;IUGR;w w/o eatures of Currarrino syndrome and sacral agenesis;Currarino syndrome, 176450Created: 3 Mar 2021, 2:20 p.m. | Last Modified: 3 Mar 2021, 2:20 p.m.
Panel Version: 2.20
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.
Phenotypes for gene: MNX1 were changed from Neonatal Diabetes; Permanent neonatal diabetes mellitus (PNDM); Recessive Neonatal diabetes; IUGR; w w/o eatures of Currarrino syndrome and sacral agenesis; Currarino syndrome, 176450 to Neonatal Diabetes Mellitus, MONDO:0016391; Permanent neonatal diabetes mellitus, MONDO:0100164; Currarino syndrome, OMIM:176450
Phenotypes for gene: MNX1 were changed from Neonatal Diabetes; Permanent neonatal diabetes mellitus (PNDM) to Neonatal Diabetes; Permanent neonatal diabetes mellitus (PNDM); Recessive Neonatal diabetes; IUGR; w w/o eatures of Currarrino syndrome and sacral agenesis; Currarino syndrome, 176450
Source NHS GMS was added to MNX1. 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 MNX1 were set to Neonatal Diabetes; Permanent neonatal diabetes mellitus (PNDM)
Publications for MNX1 were set to 24411943; 23562494
Mode of inheritance for MNX1 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for MNX1 were set to Neonatal Diabetes
Publications for MNX1 were set to 24411943
MNX1 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene MNX1 was changed to BIALLELIC, autosomal or pseudoautosomal
MNX1 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: UKGTN