1. Panels
  2. Renal Tubulopathies and related disorders
  3. CUL3
STRs in panel
Prev Next
Regions in panel
Prev Next

Renal Tubulopathies and related disorders

Gene: CUL3

Green List (high evidence)
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

Created: 8 May 2020, 10:32 p.m.
Last Modified: 8 May 2020, 10:32 p.m.
Panel version: Imported from Hypertension and Aldosterone disorders panel version 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • Pseudohypoaldosteronism, type IIE, MIM# 614496
OMIM
603136
Clinvar variants
Variants in CUL3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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