SUFU

SUFU negative regulator of hedgehog signaling
OMIM: 607035, ClinGen, DECIPHER

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green SUFU in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Joubert syndrome 32, MIM#617757 Neurodevelopmental disorder, MONDO:0700092, SUFU-related
Green SUFU in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Green SUFU in Joubert syndrome and other neurological ciliopathies Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Joubert syndrome 32, MIM#617757 Neurodevelopmental disorder, MONDO:0700092, SUFU-related
Green SUFU in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Green SUFU in Cancer Predisposition_Paediatric Level 2: Cancer Version 1.0	0 reviews	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services
Green SUFU in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 2.0	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Literature Expert Review Green Phenotypes Joubert syndrome 32, MIM#617757 Neurodevelopmental disorder, MONDO:0700092, SUFU-related
Red SUFU in CGC_86 Version 1.0	0 reviews	Other	Sources CGC_86 Phenotypes Meningioma, familial Medulloblastoma
Amber SUFU in Schwannomatosis Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes {Meningioma, familial, susceptibility to} MIM#607174 Basal cell nevus syndrome MIM#109400
Green SUFU in Medulloblastoma Level 2: Cancer Predisposition Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources SA Pathology Expert Review Green Phenotypes Medulloblastoma, MONDO:0007959 Basal cell nevus syndrome 2, MONDO:0958189 Basal cell nevus syndrome 2, MIM#620343 Meningioma, familial, susceptibility to, MIM#607174 Medulloblastoma predisposition syndrome, MIM#155255
Green SUFU in Fetal anomalies Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Genomics England PanelApp Expert Review Green Phenotypes Basal cell nevus syndrome, MIM# 109400
Green SUFU in Facial papules Level 2: Dermatological disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes nevoid basal cell carcinoma syndrome MONDO:0007187
Green SUFU in Transplant Co-Morbidity Level 2: Screening Version 1.0	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert List Expert Review Green Phenotypes SUFU-related neurodevelopmental disorder