Familial Hirschsprung Disease
Gene: SMOEnsemblGeneIds (GRCh38): ENSG00000128602
EnsemblGeneIds (GRCh37): ENSG00000128602
OMIM: 601500, Gene2Phenotype
SMO is in 13 panels
2 reviews
Eleanor Williams (Genomics England Curator)
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.Created: 19 Jan 2021, 6:07 p.m. | Last Modified: 19 Jan 2021, 6:07 p.m.
Panel Version: 1.9
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.Created: 19 Jan 2021, 6:04 p.m. | Last Modified: 19 Jan 2021, 6:22 p.m.
Panel Version: 1.9
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hirschsprung disease MONDO:0018309
Publications
Zornitza Stark (Australian Genomics)
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 listCreated: 27 Jul 2020, 4:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, congenital heart disease, polydactyly, aganglionosis
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- postaxial polydactyly MONDO:0020927
- Microcephaly HP:0000252
- congenital heart disease MONDO:0005453
- Hirschsprung disease MONDO:0018309
- OMIM
- 601500
- Clinvar variants
- Variants in SMO
- Penetrance
- None
- Publications
- Panels with this gene
-
- Limb disorders
- DDG2P
- Intellectual disability
- Structural eye disease
- Ocular coloboma
- Mosaic skin disorders - deep sequencing
- Gastrointestinal neuromuscular disorders
- Fetal anomalies
- Severe microcephaly
- Familial Hirschsprung Disease
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Malformations of cortical development
- Anophthalmia or microphthalmia
History Filter Activity
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: smo has been classified as Red List (Low Evidence).
Set Phenotypes
Eleanor Williams (Genomics England Curator)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
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: SMO were changed from Microcephaly, congenital heart disease, polydactyly, aganglionosis to Microcephaly, congenital heart disease, polydactyly, aganglionosis; Hirschsprung disease MONDO:0018309
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)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