SUFU

SUFU negative regulator of hedgehog signaling
OMIM: 607035, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green SUFU in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.62	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 32, MIM#617757 SUFU-related neurodevelopmental disorder, Joubert-like
Green SUFU in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 0.127	review	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 1.28	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 32, MIM#617757 SUFU-related neurodevelopmental disorder, Joubert-like
Green SUFU in Macrocephaly_Megalencephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.149	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SUFU in Mendeliome Version 1.2302	review	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 SUFU-related neurodevelopmental syndrome Basal cell nevus syndrome, MIM# 109400
Green SUFU in Cancer Predisposition_Paediatric Level 2: Cancer Version 0.131	review	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 1.63	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Joubert syndrome 32, MIM#617757 SUFU-related neurodevelopmental syndrome
Green SUFU in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.30 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes congenital ocular motor apraxia (forme fruste of Joubert syndrome)
Green SUFU in Medulloblastoma Level 2: Cancer Predisposition Version 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	review	Unknown	Sources Expert Review Red NSW Health Pathology
Green SUFU in Fetal anomalies Version 1.313	review	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 BabyScreen+ newborn screening Level 2: Screening Version 1.116	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	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 Superpanel Level 2: Screening Version 0.18	review	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	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	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