SMO

smoothened, frizzled class receptor
OMIM: 601500, ClinGen, DECIPHER

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Amber SMO in Polymicrogyria and Schizencephaly Level 2: Neurology and neurodevelopmental disorders Version 1.4 Component of the following Super Panels: Malformations of cortical development_Superpanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Curry-Jones syndrome, somatic mosaic MIM#601707 Tags somatic
Green SMO in Anophthalmia_Microphthalmia_Coloboma Level 2: Ophthalmological disorders Version 2.7	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Curry-Jones syndrome, somatic mosaic, MIM#601707 Tags somatic
Green SMO in Congenital Heart Defect Level 2: Cardiovascular disorders Version 1.35	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Microcephaly, congenital heart disease, polydactyly, aganglionosis Pallister-Hall-like syndrome , MIM#241800
Green SMO in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 2.6	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Curry-Jones syndrome, somatic mosaic, MIM# 601707 Tags somatic
Green SMO in Hirschsprung disease Level 2: Gastroenterological disorders Version 1.1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Microcephaly, congenital heart disease, polydactyly, aganglionosis Pallister-Hall-like syndrome , MIM#241800
Green SMO in Mendeliome Version 2.588	1 review	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
Green SMO in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 2.32	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Microcephaly, congenital heart disease, polydactyly, aganglionosis Pallister-Hall-like syndrome , MIM#241800
Green SMO in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.20 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	3 reviews	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
Green SMO in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.25	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Curry-Jones syndrome, somatic mosaic 601707 Tags somatic
Green SMO in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.151	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Microcephaly, congenital heart disease, polydactyly, aganglionosis Pallister-Hall-like syndrome , MIM#241800
Red SMO in Additional findings_Paediatric Level 2: Screening Version 1.1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene Phenotypes Medulloblastoma
Green SMO in Mosaic skin disorders Level 2: Dermatological disorders Version 2.0 Component of the following Super Panels: Vascular Malformations SuperPanel	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp NHS GMS Phenotypes Curry-Jones syndrome, MIM#601707 Tags somatic
Green SMO in Fetal anomalies Version 2.81	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Literature Expert list Phenotypes Curry-Jones syndrome, somatic mosaic, MIM#601707 Pallister-Hall-like syndrome, MIM# 241800
Red SMO in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.7	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Medulloblastoma