Monogenic Diabetes

Gene: MNX1

Green List (high evidence)

MNX1 (motor neuron and pancreas homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000130675
EnsemblGeneIds (GRCh37): ENSG00000130675
OMIM: 142994, Gene2Phenotype
MNX1 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated individuals reported with this association.

Note variants in this gene also cause Curarino syndrome.
Created: 21 Mar 2023, 7:35 a.m. | Last Modified: 21 Mar 2023, 7:35 a.m.
Panel Version: 0.37

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Permanent neonatal diabetes mellitus, MONDO:0100164, MNX1-related

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Permanent neonatal diabetes mellitus, MONDO:0100164, MNX1-related
OMIM
142994
Clinvar variants
Variants in MNX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Mar 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mnx1 has been classified as Green List (High Evidence).

21 Mar 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MNX1 were changed from to Permanent neonatal diabetes mellitus, MONDO:0100164, MNX1-related

17 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MNX1 was added gene: MNX1 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green Mode of inheritance for gene: MNX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MNX1 were set to 24411943; 23562494; 26534984