PanelApp (test)
  1. Genes and Genomic Entities
  2. SUFU:Ensemblv90

SUFU:Ensemblv90

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

18 panels

Panel Reviews Mode of inheritance Details
18 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 1.3802

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 1.508

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 1.162

Component of the following Super Panels:

  • Ataxia_Superpanel
  • 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

    Red SUFU in CGC_86


    Version 0.3

    		0 reviews Other
    Sources
    • CGC_86
    Phenotypes
    • Meningioma, familial
    • Medulloblastoma

    Red SUFU in NCGC


    Version 0.3

    		0 reviews Other
    Sources
    • NCGC
    Phenotypes
    • Meningioma, familial
    • Medulloblastoma

    Red SUFU in TCGA_PANCAN_2018


    Version 0.3

    		0 reviews Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • Meningioma, familial
    • Medulloblastoma

    Amber SUFU in Schwannomatosis


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.17

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • {Meningioma, familial, susceptibility to} MIM#607174
    • Basal cell nevus syndrome MIM#109400

    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