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  3. CUL3
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Fetal anomalies

Gene: CUL3

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Elizabeth Scotchman (North Thames Genomic Laboratory Hub)

I don't know

Green on Australian fetal anomalies panel. PMID 37665043: case study, fetal ultrasound and echocardiogram performed at 21+6 showed CHD and mild symmetrical fetal intrauterine growth restriction. The anomalies included a two-vessel umbilical cord, pulmonary artery atresia, mildly hypertrophic right ventricle, moderate tricuspid regurgitation,and reverse flow in the ductus venosus, hepatic vein, and inferior venacava. The middle cerebral artery had a decreased pulsatility index. Patient had de novo PTC variant in CUL3. PMID 32341456: 3 paediatric patients, 2 of which showed CHD. One patient had de novo missense variant in CUL3 and had atrial septal defect and pulmonary valve stenosis. Other patient had de novo PTC variant and had submucosal palate cleft and bifid uvula.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with or without autism or seizures, MIM#619239; Pseudohypoaldosteronism, type IIE, MIM#614496

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Neurodevelopmental disorder with or without autism or seizures, OMIM:619239
  • Pseudohypoaldosteronism, type IIE, OMIM:614496
OMIM
603136
Clinvar variants
Variants in CUL3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CUL3 was added gene: CUL3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: CUL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CUL3 were set to 31512373; 31145527; 28135719 Phenotypes for gene: CUL3 were set to Neurodevelopmental disorder with or without autism or seizures, OMIM:619239; Pseudohypoaldosteronism, type IIE, OMIM:614496