Central Hypoventilation
Gene: RET
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
Gene: ret has been classified as Red List (Low Evidence).
Phenotypes for gene: RET were changed from to Central hypoventilation syndrome, congenital, MIM#209880
Publications for gene: RET were set to
Mode of inheritance for gene: RET was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: ret has been classified as Red List (Low Evidence).
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