Central Hypoventilation
Gene: RETEnsemblGeneIds (GRCh38): ENSG00000165731
EnsemblGeneIds (GRCh37): ENSG00000165731
OMIM: 164761, Gene2Phenotype
RET is in 23 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Generally variants are postulated as modifiers in CCHS. PMID 12566528 reports 3 variants in individuals with CCHS +/-HD, p.Pro841Leu is present in 20 hets in gnomad and p.Tyr791Phe is present in 607 hets. Two were inherited from asymptomatic parents, and the third one inheritance could not be determined due to unavailability of one parent. Another variant reported in PMID 12086152 p.Arg114His in association with CCHS is present in >200 hets in gnomad.
Gene has a well established association with Hirschsprung disease and MEN.Created: 31 Oct 2020, 12:39 a.m. | Last Modified: 31 Oct 2020, 12:39 a.m.
Panel Version: 0.23
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Central hypoventilation syndrome, congenital, MIM#209880
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Central hypoventilation syndrome, congenital, MIM#209880
- OMIM
- 164761
- Clinvar variants
- Variants in RET
- Penetrance
- None
- Publications
- Panels with this gene
-
- Calcium and Phosphate disorders
- Additional findings_Adult
- Incidentalome_PREGEN_DRAFT
- Gastrointestinal neuromuscular disease
- Parathyroid Tumour
- Hirschsprung disease
- BabyScreen+ newborn screening
- Vasculitis
- Intellectual disability syndromic and non-syndromic
- Transplant Co-Morbidity Superpanel
- Cancer Predisposition_Paediatric
- Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
- Paraganglioma_phaeochromocytoma
- Facial papules
- Incidentalome
- Fetal anomalies
- Additional findings_Paediatric
- Central Hypoventilation
- Cataract
- Renal Tubulopathies and related disorders
- Interstitial Lung Disease
- Hypercalcaemia
- Thyroid Cancer
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ret has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: RET were changed from to Central hypoventilation syndrome, congenital, MIM#209880
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: RET were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: RET was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ret has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RET was added gene: RET was added to Central Hypoventilation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RET was set to Unknown