Non-syndromic familial congenital anorectal malformations
Gene: MNX1
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
Eleanor Williams: Gene added from expert list fr
Gene: mnx1 has been classified as Green List (High Evidence).
Phenotypes for gene: MNX1 were changed from anorectal malformation to anorectal malformation; Currarino syndrome 176450
Publications for gene: MNX1 were set to
Mode of inheritance for gene: MNX1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: mnx1 has been classified as Green List (High Evidence).
Gene: mnx1 has been classified as Amber List (Moderate Evidence).
Added phenotypes anorectal malformation for gene: MNX1
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