Genomics England

SUFU

SUFU negative regulator of hedgehog signaling

Panel	Mode of inheritance	Details
Filter panels11 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 Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 5.3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 32, OMIM:617757
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 DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Joubert Syndrome with Cranio-facial and Skeletal Defects, SUFU-related Joubert and congenital ocular motor apraxia
Green in Familial tumours of the nervous system R-numbers: R221 Signed-off version 2.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	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 4.6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Basal cell nevus syndrome, OMIM:109400
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 32, OMIM:617757
Green in Neurological ciliopathies Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 4.1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 32, OMIM:617757
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
Green in Ophthalmological ciliopathies Component of the following Super Panels: - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 4.1	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 32, OMIM:617757