Non-syndromic familial congenital anorectal malformations

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 13 panels

2 reviews

Charles Shaw-Smith (Royal Devon and Exeter NHS Trust)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Currarino syndrome

Eleanor Williams (Genomics England Curator)

Comment on list classification: Sufficient cases with a plausible disease causing variant found. Anorectal malformations is a dominant phenotype for Currarino syndrome.
Created: 26 Sep 2018, 10:20 a.m.
This gene is associated with Currarino syndrome in OMIM. Currarino syndrome is associated with partial sacral agenesis with intact first sacral vertebra ('sickle-shaped sacrum'), a presacral mass, and anorectal malformation. Mutations in MNX1 (formerly HLXB9) have been found in more than 3 cases of patients with Currarino syndrome (PMID: 10631160; 10749657; 11528505; 15216552;16906559]). A familial pattern of monoallelic inheritance is seen. Although there is a broad spectrum of phenotypes seem anorectal malformations appears to be a frequently observed phenotype.
Created: 26 Sep 2018, 10:19 a.m.
Comment on list classification: Rating as Amber as on expert list.
Created: 19 Sep 2018, 4:16 p.m.
Gene added from expert list from Dr Charles Shaw-Smith (Royal Devon and Exeter NHS Foundation Trust)
Created: 19 Sep 2018, 4:16 p.m.

Phenotypes
Currarino syndrome 176450

Publications

History Filter Activity

8 Nov 2018, Gel status: 3

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Eleanor Williams: Gene added from expert list fr

1 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: mnx1 has been classified as Green List (High Evidence).

26 Sep 2018, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: MNX1 were changed from anorectal malformation to anorectal malformation; Currarino syndrome 176450

26 Sep 2018, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: MNX1 were set to

26 Sep 2018, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: MNX1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

26 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: mnx1 has been classified as Green List (High Evidence).

19 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: mnx1 has been classified as Amber List (Moderate Evidence).

19 Sep 2018, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes anorectal malformation for gene: MNX1

19 Sep 2018, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: MNX1 was added gene: MNX1 was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list Mode of inheritance for gene: MNX1 was set to Phenotypes for gene: MNX1 were set to anorectal malformation