Genomics England

SUFU negative regulator of hedgehog signaling

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Adult solid tumours cancer susceptibility Signed-off version 2.2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes SUFU associated Medulloblastoma
Green in Childhood solid tumours 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
Green in Familial tumours of the nervous system R-numbers: R221 Signed-off version 1.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes
Green in Fetal anomalies 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
Green in Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome R-numbers: R214 Signed-off version 1.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes