SUFU

SUFU negative regulator of hedgehog signaling
OMIM: 607035, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels

Green SUFU in Genodermatoses with malignancies

Level 3: Skin
Level 2: Tumour syndromes
Version 1.6

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Medulloblastoma
  • Medulloblastoma, desmoplastic
  • {Meningioma, familial, susceptibility to}
  • (originally on Gorlin syndrome gene panel)

Green SUFU in Familial Tumours Syndromes of the central & peripheral Nervous system

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.9

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Brain, CNS, and PNS Cancer

Green SUFU in Adult solid tumours for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.22

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • SUFU associated Medulloblastoma

Green SUFU in Hydrocephalus


Version 2.1

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Basal cell nevus syndrome

Green SUFU in Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 1.36

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
  • Expert List
Phenotypes
  • Medulloblastoma, desmoplastic, 155255
  • Basal cell nevus syndrome, 109400
  • SUFU associated Medulloblastoma

Green SUFU in Tumour predisposition - adult onset


Version 1.1

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
  • Adult solid tumours for rare disease (Version 1.21)
Phenotypes
  • Brain, CNS, and PNS Cancer
  • SUFU associated Medulloblastoma

Amber SUFU in Limb disorders


Version 1.141

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Joubert syndrome 32, 617757
  • Joubert Syndrome with Cranio-facial and Skeletal Defects

No list SUFU in Multiple monogenic benign skin tumours


Version 0.14

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Basal cell naevus (Gorlin) syndrome

Green SUFU in Childhood solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.6

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • SUFU associated Medulloblastoma

Green SUFU in Adult solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.7

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • SUFU associated Medulloblastoma

Amber SUFU in Holoprosencephaly

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.1

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Basal cell nevus syndrome, 109400
Tags
  • watchlist

Amber SUFU in Fetal anomalies


Version 0.371

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE Additional Gene List
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Joubert Syndrome with Cranio-facial and Skeletal Defects
  • Basal cell nevus syndrome 109400
Tags
  • watchlist

Amber SUFU in DDG2P


Version 1.176

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Amber
Phenotypes
  • Joubert Syndrome with Cranio-facial and Skeletal Defects

Amber SUFU in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.1135

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Expert Review Amber
  • Literature
Phenotypes
  • Joubert syndrome 32, 617757
Tags
  • watchlist

Amber SUFU in Rare multisystem ciliopathy disorders

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.122

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Joubert syndrome 32, 617757
Tags
  • watchlist

Amber SUFU in Ophthalmological ciliopathies


Version 0.11

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Expert Review Amber
  • Expert list
Phenotypes
  • Joubert syndrome 32, 617757

Amber SUFU in Neurological ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 0.8

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Amber
  • Expert list
Phenotypes
  • Joubert syndrome 32, 617757

Amber SUFU in Skeletal ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 0.43

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Expert Review Amber
  • Expert list
Phenotypes
  • Joubert syndrome 32, 617757

Red SUFU in Childhood onset dystonia or chorea or related movement disorder


Version 0.222

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PanelApp
  • Expert Review Red
  • London North GLH
Phenotypes
  • Joubert syndrome 32, 617757