Hypertension and Aldosterone disorders
Gene: CUL3

CUL3 (cullin 3)
EnsemblGeneIds (GRCh38): ENSG00000036257
EnsemblGeneIds (GRCh37): ENSG00000036257
OMIM: 603136, Gene2Phenotype
CUL3 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Gene is associated with two distinct phenotypes: a neurodevelopmental phenotype likely related to LoF variants (ID, seizures, autism, congenital heart disease) and pseudohypoaldosteronism type IIE (PHA2E). PHA2E-associated variants are clustered around exon 9, most lead to skipping of exon 9 and produce an in-frame deletion of 57 aa in the cullin homology domain. Few (probably 3) missense variants in exon 9 have also been reported. Individuals with PHA2E do not display DD/ID and conversely individuals with NDD did not display features of PHA2E.
Created: 8 May 2020, 10:32 p.m. | Last Modified: 8 May 2020, 10:32 p.m.

Panel Version: 0.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pseudohypoaldosteronism, type IIE, MIM# 614496

Publications

22266938

Created: 8 May 2020, 10:32 p.m.
Last Modified: 8 May 2020, 10:32 p.m.
Panel version: 0.12

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
KidGen_AldoHypertension v38.1.0

Phenotypes

Pseudohypoaldosteronism, type IIE, MIM# 614496

OMIM

603136

Clinvar variants

Variants in CUL3

Penetrance

None

Publications

22266938

Panels with this gene