1. Panels
  2. Microcephaly
  3. SMO
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Microcephaly

Gene: SMO

Green List (high evidence)
SMO (smoothened, frizzled class receptor)
EnsemblGeneIds (GRCh38): ENSG00000128602
EnsemblGeneIds (GRCh37): ENSG00000128602
OMIM: 601500, Gene2Phenotype
SMO is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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: Literature
Created: 4 Jun 2020, 11:13 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly, congenital heart disease, polydactyly, aganglionosis

Publications

Created: 4 Jun 2020, 11:13 p.m.

Panel version: 0.128

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephaly, congenital heart disease, polydactyly, aganglionosis
  • Pallister-Hall-like syndrome , MIM#241800
OMIM
601500
Clinvar variants
Variants in SMO
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SMO were changed from Microcephaly, congenital heart disease, polydactyly, aganglionosis to Microcephaly, congenital heart disease, polydactyly, aganglionosis; Pallister-Hall-like syndrome , MIM#241800

4 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smo has been classified as Green List (High Evidence).

4 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smo has been classified as Green List (High Evidence).

4 Jun 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SMO was added gene: SMO was added to Microcephaly. Sources: Literature 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