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Newborns main panel

Gene: MNX1

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
Currarino syndrome: a comprehensive genetic review of a rare congenital disorder - PubMed (nih.gov)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Currarino syndrome A syndrome of neonatal diabetes mellitus, developmental delays, sacral agenesis and imperforated anus
OMIM
142994
Clinvar variants
Variants in MNX1
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to MNX1. Added phenotypes Currarino syndrome A syndrome of neonatal diabetes mellitus, developmental delays, sacral agenesis and imperforated anus for gene: MNX1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to MNX1. Added phenotypes Currarino syndrome A syndrome of neonatal diabetes mellitus, developmental delays, sacral agenesis and imperforated anus for gene: MNX1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to MNX1. Mode of inheritance for gene MNX1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Currarino syndrome A syndrome of neonatal diabetes mellitus, developmental delays, sacral agenesis and imperforated anus for gene: MNX1 Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to MNX1. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Currarino syndrome A syndrome of neonatal diabetes mellitus, developmental delays, sacral agenesis and imperforated anus for gene: MNX1

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: MNX1 was added gene: MNX1 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: MNX1 was set to BIALLELIC, autosomal or pseudoautosomal