Non-syndromic familial congenital anorectal malformations

Gene: MNX1

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Currarino syndrome

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

• 10631160
• 10749657
• 11528505
• 15216552
• 16906559