SUFU

Panel	Reviews	Mode of inheritance	Details
Filter panels 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

SUFU

19 panels

Green SUFU in Genodermatoses with malignancies

Sources

Phenotypes

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

Sources

Phenotypes

Green SUFU in Adult solid tumours for rare disease

Sources

Phenotypes

Green SUFU in Hydrocephalus

Sources

Phenotypes

Green SUFU in Tumour predisposition - childhood onset

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Phenotypes

Green SUFU in Tumour predisposition - adult onset

Sources

Phenotypes

Amber SUFU in Limb disorders

Sources

Phenotypes

No list SUFU in Multiple monogenic benign skin tumours

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Phenotypes

Green SUFU in Childhood solid tumours cancer susceptibility

Sources

Phenotypes

Green SUFU in Adult solid tumours cancer susceptibility

Sources

Phenotypes

Amber SUFU in Holoprosencephaly

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Phenotypes

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Amber SUFU in Fetal anomalies

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Phenotypes

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Amber SUFU in DDG2P

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Phenotypes

Amber SUFU in Intellectual disability

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Phenotypes

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Amber SUFU in Rare multisystem ciliopathy disorders

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Phenotypes

Tags

Amber SUFU in Ophthalmological ciliopathies

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Phenotypes

Amber SUFU in Neurological ciliopathies

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Phenotypes

Amber SUFU in Skeletal ciliopathies

Sources

Phenotypes

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

Sources

Phenotypes