Neonatal diabetes
Gene: MNX1

MNX1 (motor neuron and pancreas homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000130675
EnsemblGeneIds (GRCh37): ENSG00000130675
OMIM: 142994, Gene2Phenotype
MNX1 is in 11 panels

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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, 176450
Created: 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.

Created: 11 Jan 2019, 4:27 p.m.

Panel version: 1.13

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Elisa De Franco (University of Exeter Medical School)

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.

Created: 29 May 2017, 8:34 a.m.

Panel version: 0.130

Rebecca Foulger (Genomics England curator)

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.

Created: 24 Apr 2017, 1:42 p.m.

Panel version: 0.65

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
Eligibility statement prior genetic testing
UKGTN

Phenotypes

Neonatal Diabetes Mellitus, MONDO:0016391
Permanent neonatal diabetes mellitus, MONDO:0100164
Currarino syndrome, OMIM:176450

OMIM

142994

Clinvar variants

Variants in MNX1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

3 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

15 Jul 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

11 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to MNX1. Rating Changed from Green List (high evidence) to Green List (high evidence)

31 May 2017, Gel status: 4