| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Familial Hirschsprung Disease v1.9 | SMO | Eleanor Williams changed review comment from: As reported by expert reviewer, PMID: 32413283 - Le et al 2020 , report biallelic variants in 7 individuals from 5 families that present with a wide spectrum of phenotypes in a condition that is distinct from Curry-Jones syndrome. However, the phenotype of only 1 proband included Hirschsprung disease.; to: As reported by expert reviewer, PMID: 32413283 - Le et al 2020 , report biallelic variants in 7 individuals from 5 families that present with a wide spectrum of phenotypes in a condition that is distinct from Curry-Jones syndrome. However, only 1 proband was reported as having Hirschsprung disease. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial Hirschsprung Disease v1.9 | SMO | Eleanor Williams Classified gene: SMO as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial Hirschsprung Disease v1.9 | SMO | Eleanor Williams Added comment: Comment on list classification: Promoting from grey to red. Although the expert reviewer recommends green, there is only one case in PMID: 32413283 where the patient is reported as having Hirschsprung disease. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial Hirschsprung Disease v1.9 | SMO | Eleanor Williams Gene: smo has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial Hirschsprung Disease v1.8 | SMO | Eleanor Williams Phenotypes for gene: SMO were changed from Microcephaly, congenital heart disease, polydactyly, aganglionosis; Hirschsprung disease MONDO:0018309 to postaxial polydactyly MONDO:0020927; Microcephaly HP:0000252; congenital heart disease MONDO:0005453; Hirschsprung disease MONDO:0018309 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial Hirschsprung Disease v1.7 | SMO | Eleanor Williams Phenotypes for gene: SMO were changed from Microcephaly, congenital heart disease, polydactyly, aganglionosis to Microcephaly, congenital heart disease, polydactyly, aganglionosis; Hirschsprung disease MONDO:0018309 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial Hirschsprung Disease v1.6 | SMO | Eleanor Williams reviewed gene: SMO: Rating: RED; Mode of pathogenicity: None; Publications: 32413283; Phenotypes: Hirschsprung disease MONDO:0018309; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial Hirschsprung Disease v1.6 | SMO |
Zornitza Stark gene: SMO was added gene: SMO was added to Familial Hirschsprung Disease. Sources: Expert list Mode of inheritance for gene: SMO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMO were set to 32413283 Phenotypes for gene: SMO were set to Microcephaly, congenital heart disease, polydactyly, aganglionosis Review for gene: SMO was set to GREEN Added comment: Bi-allelic loss-of-function variations in SMO reported in seven individuals from five independent families. Wide phenotypic spectrum of developmental anomalies affecting the brain (hypothalamic hamartoma and microcephaly), heart (atrioventricular septal defect), skeleton (postaxial polydactyly, narrow chest, and shortening of long bones), and enteric nervous system (aganglionosis). Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||