Polydactyly
Gene: SMO

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

2 reviews

Anand Vasudevan (Royal Women's Hospital)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 21 Jul 2020, 3:30 a.m.
Last Modified: 21 Jul 2020, 3:30 a.m.
Panel version: 0.36

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). Somatic recurrent missense variant, L412F causes Curry-Jones syndrome, which also has polysyndactyly as a feature.
Created: 4 Jun 2020, 10:56 p.m. | Last Modified: 4 Jun 2020, 10:56 p.m.

Panel Version: 0.33

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Microcephaly; congenital heart disease; polydactyly; aganglionosis; Pallister-Hall-like syndrome, MIM# 241800; Curry-Jones syndrome, somatic mosaic 601707

Publications

Created: 4 Jun 2020, 10:56 p.m.
Last Modified: 4 Jun 2020, 10:56 p.m.
Panel version: 0.169

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Microcephaly, congenital heart disease, polydactyly, aganglionosis
Pallister-Hall-like syndrome , MIM#241800
Curry-Jones syndrome, somatic mosaic 601707

OMIM

601500

Clinvar variants

Variants in SMO

Penetrance

None

Publications

Panels with this gene