Unexplained young onset end-stage renal disease - additional genes
Gene: RETEnsemblGeneIds (GRCh38): ENSG00000165731
EnsemblGeneIds (GRCh37): ENSG00000165731
OMIM: 164761, Gene2Phenotype
RET is in 30 panels
6 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
This gene has been added to this panel with green rating as it was present in R257 Unexplained young onset end-stage renal disease panel (v5.1) with the same rating before it was made a super panel.Created: 25 Sep 2024, 9:36 p.m. | Last Modified: 25 Sep 2024, 9:36 p.m.
Panel Version: 0.65
Comment on MOI: Renal agenesis (MIM #191830) is caused by biallelic variants in ITGA8 rather than by biallelic RET variants as suggested in the reviews below. OMIM clearly associates renal agenesis with ITGA8. Biallelic variants in RET has only been associated with renal agenesis in Gene2Phenotype with 'limited' rating, which requires clinical review. This association was based on OMIM entry and do not have any associated publications. In addition, all other renal related conditions are monoallelic. Hence the MOI should be changed to monoallelic.Created: 12 Apr 2023, 1:37 p.m. | Last Modified: 10 Oct 2023, 5:38 p.m.
Panel Version: 3.6
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Eleanor Williams (Genomics England Curator)
Note on MOI - keeping BOTH mono and biallelic because Gene2Phenotype has Renal agenesis as biallalic. All other renal related conditions are monoallelic.Created: 24 Oct 2019, 1:57 p.m. | Last Modified: 24 Oct 2019, 1:57 p.m.
Panel Version: 0.49
Gene imported from the 'Renal and urinary tract disorders' panel v1.8 with a rating of GreenCreated: 9 Apr 2019, 11:17 a.m.
Helen Stuart (University of Manchester)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Bill Newman (Manchester Centre for Genomic Medicine)
Sarah Leigh (Genomics England Curator)
The mode of inheritance of this gene has been updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.Created: 10 Oct 2023, 5:41 p.m. | Last Modified: 10 Oct 2023, 5:41 p.m.
Panel Version: 3.7
Comment on list classification: No evidence for association with the phenotypeCreated: 5 Aug 2016, 10 a.m.
Comment on phenotypes: G2P lists Renal agenesis, 191830 as an associated phenotype, however, this omim phenotype is linked to ITGA8 and not RETCreated: 5 Aug 2016, 10 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Renal agenesis = biallelic, multiplr endocrine neoplasis IIB = monoallelic (sources; G2P and OMIM).Created: 29 Mar 2016, 10:30 a.m.
Comment on list classification: Promoted from amber to green as two reviewers in agreement.Created: 29 Mar 2016, 10:28 a.m.
Details
- Mode of Inheritance
- 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
- OMIM
- 164761
- Clinvar variants
- Variants in RET
- Penetrance
- None
- Panels with this gene
-
- Familial pulmonary fibrosis
- Intellectual disability
- Gastrointestinal neuromuscular disorders
- Familial hyperparathyroidism or hypocalciuric hypercalcaemia
- Fetal anomalies
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Unexplained kidney failure in young people
- Multiple endocrine tumours
- Unexplained young onset end-stage renal disease - additional genes
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Thyroid cancer pertinent cancer susceptibility
- Gastrointestinal epithelial barrier disorders
- Childhood solid tumours cancer susceptibility
- Sudden death in young people
- Inherited phaeochromocytoma and paraganglioma
- CAKUT
- Additional findings health related - children
- Parathyroid Cancer
- COVID-19 research
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Hirschsprung disease
- Childhood solid tumours
- Adult solid tumours for rare disease
- Adult solid tumours cancer susceptibility
- Endocrine neoplasia
- DDG2P
- Additional findings health related
- Neuroendocrine cancer pertinent cancer susceptibility
- Multiple endocrine neoplasia type 2
History Filter Activity
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: RET were changed from {Hirschsprung disease, susceptibility to, 1}, 142623; Multiple endocrine neoplasia IIA, 171400; Renal Adysplasia; Pheochromocytoma, 171300; Renal agenesis, 191830; Central hypoventilation syndrome, congenital, 209880; Multiple endocrine neoplasia IIB, 162300; Medullary thyroid carcinoma, 155240 to {Hirschsprung disease, susceptibility to, 1}, OMIM:142623; Multiple endocrine neoplasia IIA, OMIM:171400; Multiple endocrine neoplasia IIB, OMIM:162300; Pheochromocytoma, OMIM:171300
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Added phenotypes {Hirschsprung disease, susceptibility to, 1}, 142623; Multiple endocrine neoplasia IIA, 171400; Renal Adysplasia; Pheochromocytoma, 171300; Renal agenesis, 191830; Central hypoventilation syndrome, congenital, 209880; Multiple endocrine neoplasia IIB, 162300; Medullary thyroid carcinoma, 155240 for gene: RET
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: RET was added gene: RET was added to Unexplained young onset end-stage renal disease - additional genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RET were set to 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