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  3. MNX1
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Currarino triad

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 11 panels

2 reviews

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
CURRARINO SYNDROME; Currarino syndrome; Currarino syndrome,176450

Created: 3 Nov 2016, 11:48 a.m.

Panel version: 0.5

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: MNX1 rated as green based on expert review.
Created: 3 Nov 2016, 12:21 p.m.
MNX1 shows incomplete penetrance for Currarino triad.
Created: 24 Oct 2016, 8:03 a.m.
Comment on list classification: Mutations in the MNX1 gene (also called HLXB9) have been reported in the literature and disease databases for Currarino triad.
Created: 24 Oct 2016, 7:57 a.m.
Created: 24 Oct 2016, 8:03 a.m.

Panel version: 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Other
Phenotypes
  • CURRARINO SYNDROME
  • Currarino syndrome
  • Currarino syndrome,176450
OMIM
142994
Clinvar variants
Variants in MNX1
Penetrance
Incomplete
Panels with this gene

History Filter Activity

3 Nov 2016, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

3 November 2016: Panel review was assessed and panel was revised according to expert review and additional curation.

3 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

3 Nov 2016, Gel status: 4

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for MNX1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

24 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

24 Oct 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

MNX1 was added to Currarino triadpanel. Source: Radboud University Medical Center, Nijmegen

24 Oct 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

MNX1 was added to Currarino triadpanel. Source: Literature

24 Oct 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

MNX1 was added to Currarino triadpanel. Sources: Other

24 Oct 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

MNX1 was created by rfoulger