SUFU

SUFU negative regulator of hedgehog signaling
OMIM: 607035
PanelMode of inheritanceDetails
6 panels
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
SUFU associated Medulloblastoma
R-numbers: R359
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Basal cell nevus syndrome, OMIM:109400, {Medulloblastoma}, OMIM:155255, {Meningioma, familial, susceptibility to}, OMIM:607174
R-numbers: R221
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
R-numbers: R21, R412
Signed-off version 3.0
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 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Basal cell nevus syndrome, OMIM:109400
R-numbers: R214
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes