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Non-syndromic familial congenital anorectal malformations v0.109 MNX1 Eleanor Williams Marked gene: MNX1 as ready
Non-syndromic familial congenital anorectal malformations v0.109 MNX1 Eleanor Williams Gene: mnx1 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.103 MNX1 Charles Shaw-Smith reviewed gene: MNX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Currarino syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Non-syndromic familial congenital anorectal malformations v0.103 MNX1 Charles Shaw-Smith reviewed gene: MNX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Mode of inheritance:
Non-syndromic familial congenital anorectal malformations v0.63 MNX1 Eleanor Williams Phenotypes for gene: MNX1 were changed from anorectal malformation to anorectal malformation; Currarino syndrome 176450
Non-syndromic familial congenital anorectal malformations v0.62 MNX1 Eleanor Williams Publications for gene: MNX1 were set to
Non-syndromic familial congenital anorectal malformations v0.61 MNX1 Eleanor Williams Mode of inheritance for gene: MNX1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Non-syndromic familial congenital anorectal malformations v0.60 MNX1 Eleanor Williams Classified gene: MNX1 as Green List (high evidence)
Non-syndromic familial congenital anorectal malformations v0.60 MNX1 Eleanor Williams Added comment: Comment on list classification: Sufficient cases with a plausible disease causing variant found. Anorectal malformations is a dominant phenotype for Currarino syndrome.
Non-syndromic familial congenital anorectal malformations v0.60 MNX1 Eleanor Williams Gene: mnx1 has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.59 MNX1 Eleanor Williams edited their review of gene: MNX1: Changed publications: 10631160, 10749657, 11528505, 15216552, 16906559; Changed phenotypes: Currarino syndrome 176450
Non-syndromic familial congenital anorectal malformations v0.59 MNX1 Eleanor Williams commented on gene: MNX1: 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.
Non-syndromic familial congenital anorectal malformations v0.51 MNX1 Eleanor Williams Classified gene: MNX1 as Amber List (moderate evidence)
Non-syndromic familial congenital anorectal malformations v0.51 MNX1 Eleanor Williams Added comment: Comment on list classification: Rating as Amber as on expert list.
Non-syndromic familial congenital anorectal malformations v0.51 MNX1 Eleanor Williams Gene: mnx1 has been classified as Amber List (Moderate Evidence).
Non-syndromic familial congenital anorectal malformations v0.50 MNX1 Eleanor Williams commented on gene: MNX1
Non-syndromic familial congenital anorectal malformations v0.48 MNX1 Eleanor Williams Added phenotypes anorectal malformation for gene: MNX1
Non-syndromic familial congenital anorectal malformations v0.47 MNX1 Eleanor Williams 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