1. Genes and Genomic Entities
  2. SUFU

SUFU

SUFU negative regulator of hedgehog signaling
OMIM: 607035, Gene2Phenotype

21 panels

Panel Reviews Mode of inheritance Details
21 panels
Green SUFU in Genodermatoses with malignancies

Level 3: Skin
Level 2: Tumour syndromes
Version 1.11

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Basal cell nevus syndrome, OMIM:109400
  • {Medulloblastoma}, OMIM:155255
  • {Meningioma, familial, susceptibility to}, OMIM:607174
Green SUFU in Familial Tumours Syndromes of the central & peripheral Nervous system

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.15

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Basal cell nevus syndrome, OMIM:109400
  • {Medulloblastoma}, OMIM:155255
  • {Meningioma, familial, susceptibility to}, OMIM:607174
Green SUFU in Adult solid tumours for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.42

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Basal cell nevus syndrome, OMIM:109400
  • {Medulloblastoma}, OMIM:155255
  • {Meningioma, familial, susceptibility to}, OMIM:607174
Green SUFU in Hydrocephalus


Level 2: Neurology
Version 5.8
Latest signed off version: v5.0 (7 Aug 2024)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Basal cell nevus syndrome, OMIM:109400
Green SUFU in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 8.63
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Joubert syndrome 32, OMIM:617757
    Green SUFU in Childhood solid tumours


    Level 2: Cancer susceptibility
    Version 5.9
    Latest signed off version: v5.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    • Expert List
    Phenotypes
    • Basal cell nevus syndrome, OMIM:109400
    • {Medulloblastoma}, OMIM:155255
    • {Meningioma, familial, susceptibility to}, OMIM:607174
    Amber SUFU in Limb disorders


    Level 2: Musculoskeletal
    Version 7.17
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Joubert syndrome 32, OMIM:617757
    Tags
    • watchlist
    No list SUFU in Multiple monogenic benign skin tumours


    Level 2: Dermatology
    Version 2.5
    Latest signed off version: v2.0 (30 Nov 2022)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Removed
    • London North GLH
    • NHS GMS
    Phenotypes
    • Basal cell naevus (Gorlin) syndrome
    Tags
    • curated_removed
    Green SUFU in Childhood solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.30

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Basal cell nevus syndrome, OMIM:109400
    • {Medulloblastoma}, OMIM:155255
    • {Meningioma, familial, susceptibility to}, OMIM:607174
    Green SUFU in Adult solid tumours cancer susceptibility


    Level 2: Cancer susceptibility
    Version 2.35
    Latest signed off version: v2.2 (18 Feb 2020)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Basal cell nevus syndrome, OMIM:109400
    • {Medulloblastoma}, OMIM:155255
    • {Meningioma, familial, susceptibility to}, OMIM:607174
    Amber SUFU in Holoprosencephaly - NOT chromosomal


    Level 2: Neurology
    Version 5.7
    Latest signed off version: v5.1 (30 Oct 2024)

    Component of the following Super Panels:

  • Cerebral malformation

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Basal cell nevus syndrome, OMIM:109400
    Tags
    • watchlist
    Green SUFU in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE Additional Gene List
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Joubert syndrome 32, OMIM: 617757
    • Joubert Syndrome with Cranio-facial and Skeletal Defects
    Green SUFU in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Joubert Syndrome with Cranio-facial and Skeletal Defects
    • SUFU-related Joubert and congenital ocular motor apraxia
    Green SUFU in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    • Literature
    Phenotypes
    • Joubert syndrome 32, OMIM:617757
    Green SUFU in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.180

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Joubert syndrome 32, OMIM:617757
    Tags
    • watchlist_moi
    Green SUFU in Ophthalmological ciliopathies


    Level 2: Ophthalmology
    Version 5.11
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    • Expert list
    Phenotypes
    • Joubert syndrome 32, OMIM:617757
    Green SUFU in Neurological ciliopathies


    Level 2: Neurology
    Version 6.13
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Joubert syndrome 32, OMIM:617757
    Amber SUFU in Skeletal ciliopathies


    Level 2: Musculoskeletal
    Version 6.5
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    • Expert list
    Phenotypes
    • Joubert syndrome 32, OMIM:617757
    Tags
    • watchlist
    Red SUFU in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Joubert syndrome 32, OMIM:617757
    Green SUFU in Familial tumours of the nervous system


    Level 2: Neurology
    Version 2.14
    Latest signed off version: v2.0 (20 Dec 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • {Medulloblastoma}, OMIM:155255
    • {Meningioma, familial, susceptibility to}, OMIM:607174
    Green SUFU in Nevoid Basal Cell Carcinoma Syndrome or Gorlin syndrome


    Level 2: Inherited cancer
    Version 1.4
    Latest signed off version: v1.0 (14 Sep 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Basal cell nevus syndrome 2, OMIM:620343
    • basal cell nevus syndrome 2, MONDO:0958189