SUFU

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

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green SUFU in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.96	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 32, MIM#617757 Neurodevelopmental disorder, MONDO:0700092, SUFU-related
Green SUFU in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 0.132	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SUFU in Joubert syndrome and other neurological ciliopathies Level 2: Neurology and neurodevelopmental disorders Version 1.33	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services 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 0.153	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SUFU in Mendeliome Version 1.3795	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Joubert syndrome 32, MIM#617757 Neurodevelopmental disorder, MONDO:0700092, SUFU-related Basal cell nevus syndrome, MIM# 109400
Green SUFU in Cancer Predisposition_Paediatric Level 2: Cancer Version 0.132	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SUFU in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.507	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Joubert syndrome 32, MIM#617757 Neurodevelopmental disorder, MONDO:0700092, SUFU-related
Green SUFU in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 1.160 Component of the following Super Panels: Neuromuscular Superpanel Progressive Neurological Conditions	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Joubert syndrome 32, MIM#617757 Neurodevelopmental disorder, MONDO:0700092, SUFU-related
Green SUFU in Medulloblastoma Level 2: Cancer Predisposition Version 1.1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green SA Pathology 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
Red SUFU in Incidentalome_PREGEN_DRAFT Version 0.43	1 review	Unknown	Sources Expert Review Red NSW Health Pathology
Green SUFU in Fetal anomalies Version 1.482	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Basal cell nevus syndrome, MIM# 109400
Red SUFU in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.141	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes {Medulloblastoma} MIM#155255
Green SUFU in Facial papules Level 2: Dermatological disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes nevoid basal cell carcinoma syndrome MONDO:0007187
Green SUFU in Transplant Co-Morbidity Level 2: Screening Version 0.20	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert List Phenotypes SUFU-related neurodevelopmental disorder
Green SUFU in Meningioma Level 2: Cancer predisposition Version 1.1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert list Phenotypes Meningioma, MONDO:0016642 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 Basal Cell Cancer Level 2: Cancer Predisposition Version 1.1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert list Phenotypes Basal cell carcinoma, MONDO:0020804 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