SUFU

SUFU negative regulator of hedgehog signaling
OMIM: 607035, Gene2Phenotype

18 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 18 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 1.10	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 1.25	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes SUFU associated Medulloblastoma
Green SUFU in Hydrocephalus Version 2.116 Latest signed off version: v2.3 (2 Mar 2020)	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 Tumour predisposition - childhood onset Level 3: Childhood Tumours Level 2: Tumour syndromes Version 2.23 Latest signed off version: v2.5 (4 Mar 2020)	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
Amber SUFU in Limb disorders Version 2.57 Latest signed off version: v2.2 (13 Feb 2020) Component of the following Super Panels: Paediatric disorders	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 1.12 Latest signed off version: v1.3 (15 Oct 2020)	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 1.15	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 2.14 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 SUFU associated Medulloblastoma
Amber SUFU in Holoprosencephaly Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 2.23 Latest signed off version: v2.3 (27 Feb 2020) Component of the following Super Panels: Cerebral malformations	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 1.717 Latest signed off version: v1.92 (21 Aug 2020)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber PAGE Additional Gene List PAGE DD-Gene2Phenotype Phenotypes Joubert syndrome 32, OMIM: 617757 Joubert Syndrome with Cranio-facial and Skeletal Defects Tags watchlist for-review
Amber SUFU in DDG2P Version 2.44 Latest signed off version: v2.2 (13 Feb 2020) Component of the following Super Panels: Paediatric disorders	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 3.1282 Latest signed off version: v3.2 (13 Feb 2020) Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	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 1.146	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Joubert syndrome 32, 617757 Tags watchlist
Amber SUFU in Ophthalmological ciliopathies Version 1.19 Latest signed off version: v1.3 (19 Feb 2020) 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 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 1.18 Latest signed off version: v1.5 (4 Mar 2020) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset Paediatric disorders Rare multisystem ciliopathy Super panel	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 1.10 Latest signed off version: v1.2 (19 Feb 2020) 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 Review Amber Expert list Phenotypes Joubert syndrome 32, 617757
Red SUFU in Childhood onset dystonia or chorea or related movement disorder Version 1.152 Latest signed off version: v1.137 (5 Aug 2021)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PanelApp Expert Review Red London North GLH Phenotypes Joubert syndrome 32, 617757