RET

ret proto-oncogene
OMIM: 164761, Gene2Phenotype

30 panels

Panel Reviews Mode of inheritance Details
30 panels
Red RET in Parathyroid Cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.5

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 1.11

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 0.116

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 1.76

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 1.5

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 1.4

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 1.42

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 1.146

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 1.32

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 1.30

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 1.16

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • Central hypoventilation syndrome, congenital, 209880
  • CCHS
Green RET 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 List
  • Expert Review Green
  • Expert list
Phenotypes
  • Multiple Endocrine Neoplasia
  • MEN2B 162300
Green RET in Familial hyperparathyroidism or hypocalciuric hypercalcaemia


Level 2: Endocrinology
Version 3.7
Latest signed off version: v3.2 (30 Nov 2022)

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 1.15

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 1.12

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


Level 2: Endocrinology
Version 3.10
Latest signed off version: v3.0 (7 Aug 2024)

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 neoplasia


Level 2: Endocrinology
Version 3.4
Latest signed off version: v3.0 (22 Mar 2023)

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 or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.78
Latest signed off version: v8.0 (30 Apr 2025)

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 1.124

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • 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 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
  • Multiple Endocrine Neoplasia
Green RET 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
  • Multiple Endocrine Neoplasia
Green RET in CAKUT

Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.181

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 Fetal anomalies


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

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

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • RENAL AGENESIS 191830
    • MULTIPLE ENDOCRINE NEOPLASIA IIB 162300
    Red RET in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • 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 Additional findings health related - children


    Version 1.1

    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
    Green RET in Paediatric pseudo-obstruction syndrome


    Level 2: Gastrohepatology
    Version 2.5
    Latest signed off version: v2.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • {Hirschsprung disease, susceptibility to, 1}, 142623
    • {Hirschsprung disease, protection against}, 142623
    Green RET in Hirschsprung disease


    Level 2: Gastrohepatology
    Version 1.3
    Latest signed off version: v1.0 (14 Sep 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • {Hirschsprung disease, protection against}, OMIM:142623
    • {Hirschsprung disease, susceptibility to, 1}, OMIM:14262
    • Hirschsprung disease, susceptibility to, 1, MONDO:0007723
    Green RET in Multiple endocrine neoplasia type 2


    Level 2: Endocrinology
    Version 1.3
    Latest signed off version: v1.0 (14 Sep 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Multiple endocrine neoplasia IIA, OMIM:171400
    • Multiple endocrine neoplasia IIB, OMIM:162300
    • multiple endocrine neoplasia type 2A, MONDO:0008234
    • multiple endocrine neoplasia type 2B, MONDO:0008082
    Green RET in Unexplained young onset end-stage renal disease - additional genes


    Level 2: Renal
    Version 1.4
    Latest signed off version: v1.1 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • {Hirschsprung disease, susceptibility to, 1}, OMIM:142623
    • Multiple endocrine neoplasia IIA, OMIM:171400
    • Multiple endocrine neoplasia IIB, OMIM:162300
    • Pheochromocytoma, OMIM:171300