SUFU

SUFU negative regulator of hedgehog signaling
OMIM: 607035
PanelMode of inheritanceDetails
4 panels
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
SUFU associated Medulloblastoma
R-numbers: R21, R412
Signed-off version 2.1
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 32, OMIM: 617757, Joubert Syndrome with Cranio-facial and Skeletal Defects
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 3.5
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Basal cell nevus syndrome, OMIM:109400
R-numbers: R359
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Medulloblastoma, desmoplastic, 155255, Basal cell nevus syndrome, 109400, SUFU associated Medulloblastoma