Severe microcephalyGene: SMO
Comment on list classification: 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 microcephaly.
Created: 19 Jan 2021, 6:23 p.m. | Last Modified: 19 Jan 2021, 6:23 p.m.
Panel Version: 2.71
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 had microcephaly.
Created: 19 Jan 2021, 6:22 p.m. | Last Modified: 19 Jan 2021, 6:22 p.m.
Panel Version: 2.70
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
Created: 3 Sep 2020, 8:56 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Microcephaly, congenital heart disease, polydactyly, aganglionosis
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SMO were changed from Microcephaly, congenital heart disease, polydactyly, aganglionosis to Microcephaly HP:0000252; postaxial polydactyly MONDO:0020927; congenital heart disease MONDO:0005453; Hirschsprung disease MONDO:0018309
Gene: smo has been classified as Red List (Low Evidence).
gene: SMO was added gene: SMO was added to Severe microcephaly. 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 gene: SMO was marked as current diagnostic