RET

ret proto-oncogene
OMIM: 164761, Gene2Phenotype

28 panels

Panel Reviews Mode of inheritance Details
28 panels

Red RET in Parathyroid Cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.4

review Not set
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Pituitary Cancer, Parathyroid and Hypercalcemia

Green RET in Familial Hirschsprung Disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.9

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
  • Alder Hey - Erasmus MC
Phenotypes
  • susceptibility to Hirschsprung disease 1, 142623
  • {Hirschsprung disease, susceptibility to, 1}, 142623
  • Hirschsprung Disease, Susceptibility To, 1, 142623
  • Hirschsprung Disease, Dominant
Tags
  • monogenic-polygenic

Green RET in Additional findings health related


Version 0.110

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
  • Expert Review Green
Phenotypes
  • Other cancer predisposition
  • Myltiple endocrine Neoplasia Type 2
  • Adult and child

Amber RET in Gastrointestinal epithelial barrier disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.60

review Not set
Sources
  • Expert Review Amber
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Inflammatory Bowel Disease (Very Early Onset)
  • Early Onset Inflammatory Bowel Disease

Green RET in Neuroendocrine cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.2

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neuroendocrine cancer

Green RET in Thyroid cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.3

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Multiple endocrine neoplasia 2A and 2B
  • Medullary thyroid cancer
  • Pheochromocytoma

Green RET 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
  • Multiple Endocrine Neoplasia

Red RET in COVID-19 research


Level 2: Viral research
Version 1.80

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • GOSH PID v.8.0
  • NHS GMS
  • North West GLH
  • GOSH PID v.8.0
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Central hypoventilation syndrome, congenital 209880

Red RET in Familial pulmonary fibrosis

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.16

review Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Pulmonary Disease

Green RET in Gastrointestinal neuromuscular disorders

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.15

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • {Hirschsprung disease, susceptibility to, 1} 142623
Tags
  • polygenic

Red RET in Sudden death in young people

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.15

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • Central hypoventilation syndrome, congenital, 209880
  • CCHS

Green RET 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 List
  • Expert Review Green
  • Expert list
Phenotypes
  • Multiple Endocrine Neoplasia
  • MEN2B 162300

Green RET in Familial hyperparathyroidism


Version 2.14
Latest signed off version: v2.3 (3 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Multiple endocrine neoplasia IIB (162300)
  • Multiple endocrine neoplasia IIA (171400)/MEN3

Green RET in Multiple endocrine tumours

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.13

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Multiple endocrine neoplasia IIA, 171400
  • Multiple Endocrine Neoplasia
  • Multiple Endocrine Neoplasia Type 2: RET Gene Deletion/Duplication
  • MEN2-like spectrum
  • Endocrine Cancer

Green RET in Inherited phaeochromocytoma and paraganglioma

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.9

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Multiple Endocrine Neoplasia
  • Multiple endocrine neoplasia IIA, 171400Medullary thyroid carcinoma, 155240Multiple endocrine neoplasia IIB, 162300Central hypoventilation syndrome, congenital, 209880Pheochromocytoma, 171300Renal agenesis, 191830{Hirschsprung disease, susceptibility to, 1}, 142623

Green RET in Inherited phaeochromocytoma and paraganglioma excluding NF1


Version 1.19
Latest signed off version: v1.4 (11 Nov 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Multiple endocrine neoplasia IIA, 171400Medullary thyroid carcinoma, 155240Multiple endocrine neoplasia IIB, 162300Central hypoventilation syndrome, congenital, 209880Pheochromocytoma, 171300Renal agenesis, 191830{Hirschsprung disease, susceptibility to, 1}, 142623
  • Multiple Endocrine Neoplasia

Green RET in Endocrine neoplasms


Version 1.23
Latest signed off version: v1.3 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • MEN2-like spectrum
  • Multiple Endocrine Neoplasia Type 2: RET Gene Deletion/Duplication
  • Multiple endocrine neoplasia IIA, 171400
  • Endocrine Cancer
  • Multiple Endocrine Neoplasia

Red RET in Primary immunodeficiency


Version 2.477
Latest signed off version: v2.1 (24 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • GOSH PID v.8.0
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • North West GLH
Phenotypes
  • Central hypoventilation syndrome, congenital 209880

Red RET in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.97

Component of the following Super Panels:

  • Renal superpanel - broad
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Renal Adysplasia
    • Multiple endocrine neoplasia IIA, 171400
    • Medullary thyroid carcinoma, 155240
    • Multiple endocrine neoplasia IIB, 162300
    • Central hypoventilation syndrome, congenital, 209880
    • Pheochromocytoma, 171300
    • Renal agenesis, 191830
    • {Hirschsprung disease, susceptibility to, 1}, 142623

    Green RET 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
    • Multiple Endocrine Neoplasia

    Green RET 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
    • Multiple Endocrine Neoplasia

    Green RET in CAKUT

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 1.164

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Renal Adysplasia
    • Multiple endocrine neoplasia IIA, 171400
    • Medullary thyroid carcinoma, 155240
    • Multiple endocrine neoplasia IIB, 162300
    • Central hypoventilation syndrome, congenital, 209880
    • Pheochromocytoma, 171300
    • Renal agenesis, 191830
    • {Hirschsprung disease, susceptibility to, 1}, 142623

    Green RET in Unexplained paediatric onset end-stage renal disease


    Version 1.20
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • Multiple endocrine neoplasia IIB, 162300
    • Central hypoventilation syndrome, congenital, 209880
    • Multiple endocrine neoplasia IIA, 171400
    • Renal agenesis, 191830
    • {Hirschsprung disease, susceptibility to, 1}, 142623
    • Pheochromocytoma, 171300
    • Renal Adysplasia
    • Medullary thyroid carcinoma, 155240

    Green RET in Fetal anomalies


    Version 1.730
    Latest signed off version: v1.92 (21 Aug 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • RENAL AGENESIS
    • MULTIPLE ENDOCRINE NEOPLASIA IIB

    Green RET in DDG2P


    Version 2.49
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • RENAL AGENESIS 191830
    • MULTIPLE ENDOCRINE NEOPLASIA IIB 162300

    Red RET in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1370
    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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Gene2Phenotype both DD and IF gene with ID HPO

    Green RET in Severe Paediatric Disorders


    Version 1.84

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Central hypoventilation syndrome, congenital, 209880

    Green RET in Additional findings health related - children


    Version 1.0

    Component of the following Super Panels:

  • Additional findings health related - adults
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Other
    • Expert Review Green
    Phenotypes
    • Other cancer predisposition
    • Myltiple endocrine Neoplasia Type 2
    • Adult and child