SMO

smoothened, frizzled class receptor
OMIM: 601500, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Red SMO in Familial Hirschsprung Disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.11	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes postaxial polydactyly MONDO:0020927 Microcephaly HP:0000252 congenital heart disease MONDO:0005453 Hirschsprung disease MONDO:0018309
Red SMO in Gastrointestinal neuromuscular disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.30	review	Other - please specify in evaluation comments	Sources Expert Review Red Literature Phenotypes Curry-Jones syndrome, somatic mosaic 601707 Tags mosaicism
Green SMO in Limb disorders Level 2: Musculoskeletal Version 7.17 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Curry-Jones syndrome, somatic mosaic, OMIM:601500 postaxial polydactyly MONDO:0020927 Microcephaly HP:0000252 congenital heart disease MONDO:0005453 Hirschsprung disease MONDO:0018309 Tags somatic mosaicism
Green SMO in Malformations of cortical development Level 2: Neurology Version 7.30 Latest signed off version: v7.0 (30 Oct 2024) Component of the following Super Panels: Cerebral malformation	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Curry-Jones syndrome, somatic mosaic 601707 Tags somatic mosaicism
Green SMO in Ocular coloboma Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.51	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Curry-Jones syndrome, somatic mosaic 601707 Tags mosaicism somatic
Green SMO in Mosaic skin disorders - deep sequencing Level 2: Dermatology Version 3.27 Latest signed off version: v3.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Green Phenotypes Curry-Jones syndrome
Red SMO in Severe microcephaly Level 2: Neurology Version 8.31 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Microcephaly HP:0000252 postaxial polydactyly MONDO:0020927 congenital heart disease MONDO:0005453 Hirschsprung disease MONDO:0018309
Green SMO in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes Curry-Jones Syndrome Tags mosaicism somatic
Green SMO in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 2: Musculoskeletal Version 6.3 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Literature Phenotypes Curry-Jones syndrome, somatic mosaic, 601707 Tags somatic mosaicism
Green SMO in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Curry-Jones Syndrome, OMIM:601707 SMO-related developmental disorder Tags mosaicism
Green SMO in Anophthalmia or microphthalmia Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.56	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Curry-Jones syndrome, somatic mosaic 601707 Tags mosaicism somatic
Red SMO in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Curry-Jones syndrome, somatic mosaic 601707
Green SMO in Structural eye disease Level 2: Ophthalmology Version 4.37 Latest signed off version: v4.0 (7 Aug 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources London North GLH NHS GMS Expert Review Green Phenotypes Curry-Jones syndrome, somatic mosaic 601707 Tags mosaicism somatic