Familial pulmonary fibrosis
Gene: RET
RET (ret proto-oncogene)
EnsemblGeneIds (GRCh38): ENSG00000165731
EnsemblGeneIds (GRCh37): ENSG00000165731
OMIM: 164761, Gene2Phenotype
RET is in 30 panels
EnsemblGeneIds (GRCh38): ENSG00000165731
EnsemblGeneIds (GRCh37): ENSG00000165731
OMIM: 164761, Gene2Phenotype
RET is in 30 panels
2 reviews
Philip Molyneaux (Imperial College)
Associated with Central hypoventilation syndrome, not fibrosis
Created: 26 Apr 2017, 12:13 p.m.
Alice Gardham (Genomics England)
Comment when marking as ready: Congenital hypoventilation rather than fibrosis -not relevant phenotypeCreated: 8 Feb 2017, 5:43 p.m.
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Pulmonary Disease
- OMIM
- 164761
- Clinvar variants
- Variants in RET
- Penetrance
- Complete
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Familial pulmonary fibrosis
- Gastrointestinal neuromuscular disorders
- Familial hyperparathyroidism or hypocalciuric hypercalcaemia
- COVID-19 research
- Multiple endocrine tumours
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Fetal anomalies
- Thyroid cancer pertinent cancer susceptibility
- Gastrointestinal epithelial barrier disorders
- Childhood solid tumours cancer susceptibility
- Sudden death in young people
- Inherited phaeochromocytoma and paraganglioma
- Unexplained kidney failure in young people
- Additional findings health related - children
- DDG2P
- Parathyroid Cancer
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Hirschsprung disease
- Adult solid tumours for rare disease
- Unexplained young onset end-stage renal disease - additional genes
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Endocrine neoplasia
- Additional findings health related
- Neuroendocrine cancer pertinent cancer susceptibility
- Multiple endocrine neoplasia type 2
- Intellectual disability
- CAKUT
History Filter Activity
27 Apr 2017, Gel status: 1
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
8 Feb 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
29 Oct 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)RET was created by ellenmcdonagh
29 Oct 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)RET was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory