Renal Tubulopathies and related disorders
Gene: CUL3
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
gene: CUL3 was added gene: CUL3 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green Mode of inheritance for gene: CUL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CUL3 were set to 22266938 Phenotypes for gene: CUL3 were set to Pseudohypoaldosteronism, type IIE, MIM# 614496