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Non-syndromic familial congenital anorectal malformations v0.119 | MYCN | Eleanor Williams Tag watchlist tag was added to gene: MYCN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.112 | MYCN | Eleanor Williams Marked gene: MYCN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.112 | MYCN | Eleanor Williams Gene: mycn has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.112 | MYCN | Eleanor Williams Classified gene: MYCN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.112 | MYCN | Eleanor Williams Added comment: Comment on list classification: Keep Amber rating as only 1 confirmed case of anal atresia and a variant in MYCN. Another case of a patient with Feingold syndrome 1 and anal atresia has been reported but no gene analysis. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.112 | MYCN | Eleanor Williams Gene: mycn has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.103 | MYCN | Charles Shaw-Smith reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Feingold syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.103 | MYCN | Eleanor Williams commented on gene: MYCN: Checking with Genomics England Clinical team as to whether the anorectal phenotype observed associated with this gene is frequent enough to include this gene in this panel, and whether other types of atresia should be considered for this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.103 | MYCN | Charles Shaw-Smith reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.71 | MYCN | Eleanor Williams Phenotypes for gene: MYCN were changed from anorectal malformation to anorectal malformation; Feingold syndrome 1 164280 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.70 | MYCN | Eleanor Williams Mode of inheritance for gene: MYCN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.69 | MYCN | Eleanor Williams Publications for gene: MYCN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.68 | MYCN |
Eleanor Williams commented on gene: MYCN: MYCN is associated with Feingold syndrome 1 in OMIM and a confirmed association with this disorder in Gene2Phenotype. Phenotypic features of this syndrome include variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. Marcelis et al 2008 (PMID: 18470948) sequenced MYCN in 130 patients, 93 of which had a strong clinical suspicion of Feingold syndrome, the rest were missing some of the core features. 16 heterozygous mutations in MYCN were found in 26 patients from 17 families. All mutations either occurred de novo or segregated withthe disease in the family. Together with previous reports, a total of 23 separate MYCN mutations in 77 patients from 32 families have now been described. A total of 19 of the mutations create a stop codon or cause a frameshift. Out of 77 patients 55% showed atresias of the gastrointestinal tract. Esophageal atresia and duodenal atresia were almost equally frequent, 32 vs. 31%. Other atresias, jejunal or anal, are rare. |
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Non-syndromic familial congenital anorectal malformations v0.49 | MYCN | Eleanor Williams Classified gene: MYCN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.49 | MYCN | Eleanor Williams Added comment: Comment on list classification: Rating amber as is on expert list. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.49 | MYCN | Eleanor Williams Gene: mycn has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.48 | MYCN | Eleanor Williams commented on gene: MYCN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.48 | MYCN | Eleanor Williams Added phenotypes anorectal malformation for gene: MYCN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.47 | MYCN |
Eleanor Williams gene: MYCN was added gene: MYCN was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list Mode of inheritance for gene: MYCN was set to Phenotypes for gene: MYCN were set to anorectal malformation |