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  3. MNX1
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Skeletal dysplasia

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

Abhijit Kulkarni (Healius Pathology)

Green List (high evidence)

The Currarino triad involves the association of partial sacral agenesis with intact first sacral vertebra ('sickle-shaped sacrum'), a presacral mass, and anorectal malformation (Currarino et al., 1981). The specific sacral anomaly is distinct to this syndrome. Sacral genesis and presacral mass may present in fetal period.

ID not part of this syndrome.
Created: 17 May 2022, 12:17 a.m. | Last Modified: 17 May 2022, 12:17 a.m.
Panel Version: 0.14410

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Currarino syndrome, MIM# 176450

Publications

Created: 17 May 2022, 12:17 a.m.
Last Modified: 17 May 2022, 12:17 a.m.
Panel version: Imported from Mendeliome panel version 0.14410

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
Phenotypes
  • Currarino syndrome 176450
OMIM
142994
Clinvar variants
Variants in MNX1
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MNX1 was added gene: MNX1 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: MNX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MNX1 were set to Currarino syndrome 176450