Monogenic Diabetes
Gene: MNX1
MNX1 (motor neuron and pancreas homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000130675
EnsemblGeneIds (GRCh37): ENSG00000130675
OMIM: 142994, Gene2Phenotype
MNX1 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000130675
EnsemblGeneIds (GRCh37): ENSG00000130675
OMIM: 142994, Gene2Phenotype
MNX1 is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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