Autism
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)

Further publication (PMID 32341456) reporting three unrelated individuals with neurodevelopmental phenotype.
Created: 8 May 2020, 10:25 p.m. | Last Modified: 8 May 2020, 10:25 p.m.

Panel Version: 0.90

Two de novo loss-of-function (LoF) mutations (both nonsense variants) reported in unrelated ASD cases (PMIDs 22495309 and 22914163). Analysis of rare coding variation in 3,871 ASD cases and 9,937 ancestry-matched or paternal controls from the Autism Sequencing Consortium (ASC) in De Rubeis et al., 2014 identified CUL3 as a gene meeting high statistical significance with a FDR 0.01 (PMID 25363760). A third de novo LoF variant was identified in a Chinese ASD proband from the Autism Clinical and Genetic Resources in China (ACGC) cohort in Wang et al., 2016 (PMID 27824329).
Created: 7 Feb 2020, 5:52 a.m. | Last Modified: 7 Feb 2020, 5:52 a.m.

Panel Version: 0.57

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with or without autism or seizures MIM#619239

Publications

Created: 7 Feb 2020, 5:52 a.m.
Last Modified: 7 Feb 2020, 5:52 a.m.
Panel version: 0.139

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Neurodevelopmental disorder with or without autism or seizures 619239

OMIM

603136

Clinvar variants

Variants in CUL3

Penetrance

None

Publications

Panels with this gene