SMO

smoothened, frizzled class receptor
OMIM: 601500
PanelMode of inheritanceDetails
7 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
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Curry-Jones Syndrome
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
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
R-numbers: R327
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Curry-Jones syndrome
R-numbers: R100
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Curry-Jones syndrome, somatic mosaic, 601707
R-numbers: R36
Signed-off version 3.79
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Curry-Jones syndrome, somatic mosaic 601707