Central Hypoventilation

Gene: RET

Red List (low evidence)

RET (ret proto-oncogene)
EnsemblGeneIds (GRCh38): ENSG00000165731
EnsemblGeneIds (GRCh37): ENSG00000165731
OMIM: 164761, Gene2Phenotype
RET is in 23 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

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

History Filter Activity

31 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ret has been classified as Red List (Low Evidence).

31 Oct 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RET were changed from to Central hypoventilation syndrome, congenital, MIM#209880

31 Oct 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RET were set to

31 Oct 2020, Gel status: 1

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

31 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ret has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

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