SMO

smoothened, frizzled class receptor
OMIM: 601500, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Amber SMO in Polymicrogyria and Schizencephaly Level 2: Neurology and neurodevelopmental disorders Version 0.189 Component of the following Super Panels: Malformations of cortical development_Superpanel	review	Unknown	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 1.39	review	Other	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 0.418	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 1.68	review	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 0.25	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 1.1902	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 1.269	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 0.276 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	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 Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.522	review	Other	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Curry-Jones syndrome, somatic mosaic 601707 Tags somatic
Red SMO in Additional findings_Paediatric Level 2: Screening Version 0.278	review	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 1.12 Component of the following Super Panels: Vascular Malformations SuperPanel	review	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 1.255	review	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
Red SMO in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Medulloblastoma