Genomics England

SMO

smoothened, frizzled class receptor

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Curry-Jones Syndrome, OMIM:601707, SMO-related developmental disorder
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Curry-Jones Syndrome
Green in Limb disorders Component of the following Super Panels: - Paediatric disorders Signed-off version 5.4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Curry-Jones syndrome, somatic mosaic, OMIM:601500, postaxial polydactyly MONDO:0020927, Microcephaly HP:0000252, congenital heart disease MONDO:0005453, Hirschsprung disease MONDO:0018309
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation Signed-off version 5.4	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Curry-Jones syndrome, somatic mosaic 601707
Green in Mosaic skin disorders - deep sequencing R-numbers: R327 Signed-off version 2.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Curry-Jones syndrome
Green in Rare syndromic craniosynostosis or isolated multisuture synostosis R-numbers: R100 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Curry-Jones syndrome, somatic mosaic, 601707
Green in Structural eye disease R-numbers: R36 Signed-off version 3.79	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Curry-Jones syndrome, somatic mosaic 601707