Newborns main panel
Gene: CUL3

CUL3 (cullin 3)
EnsemblGeneIds (GRCh38): ENSG00000036257
EnsemblGeneIds (GRCh37): ENSG00000036257
OMIM: 603136, Gene2Phenotype
CUL3 is in 6 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Internal inclusion list only
Created: 25 Sep 2024, 4:15 p.m. | Last Modified: 25 Oct 2024, 10:45 a.m.

Panel Version: 0.469

Created: 25 Sep 2024, 4:15 p.m.
Last Modified: 25 Oct 2024, 10:45 a.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is dominant-negative (DN).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

PMID: 34622103 - 16 CUL3 cases, all affect a single exon. PMID: 35563538 - mechanism - a comprehensive model for the dominant negative
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green

Phenotypes

Pseudohypoaldosteronism, type IIE

Tags

special_consideration internal_inclusion_list_only

OMIM

603136

Clinvar variants

Variants in CUL3

Penetrance

None

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene

History Filter Activity

25 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: CUL3.

30 Oct 2023, Gel status: 3