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Cerebral Palsy

Gene: CUL3

Red List (low evidence)

CUL3 (cullin 3)
EnsemblGeneIds (GRCh38): ENSG00000036257
EnsemblGeneIds (GRCh37): ENSG00000036257
OMIM: 603136, Gene2Phenotype
CUL3 is in 10 panels

1 review

Clare van Eyk (University of Adelaide)

I don't know

1 individual reported with mono-allelic splice variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: Literature
Created: 27 May 2024, 5:09 a.m.

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

Details

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

History Filter Activity

30 May 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cul3 has been classified as Red List (Low Evidence).

30 May 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cul3 has been classified as Red List (Low Evidence).

27 May 2024, Gel status: 0

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

Clare van Eyk (University of Adelaide)

gene: CUL3 was added gene: CUL3 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: CUL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CUL3 were set to PMID: 38693247 Phenotypes for gene: CUL3 were set to Neurodevelopmental disorder with or without autism or seizures, MIM#619239, Pseudohypoaldosteronism, type IIE, MIM#614496 Review for gene: CUL3 was set to AMBER