GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: MNX1

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

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Previously called HLXB9. Dysostoses with predominant vertebral with and without costal involvement gp of SD - several cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Currarino syndrome 176450

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS

Phenotypes

Currarino syndrome 176450

OMIM

142994

Clinvar variants

Variants in MNX1

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: MNX1 was added gene: MNX1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,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

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: MNX1