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  3. CUX1
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Early onset or syndromic epilepsy

Gene: CUX1

Green List (high evidence)
CUX1 (cut like homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000257923
EnsemblGeneIds (GRCh37): ENSG00000257923
OMIM: 116896, Gene2Phenotype
CUX1 is in 4 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 5:59 p.m. | Last Modified: 24 Feb 2025, 5:59 p.m.
Panel Version: 7.39
Comment on list classification: There is enough evidence for this gene to be green on this panel.
Created: 28 Aug 2024, 12:02 p.m. | Last Modified: 28 Aug 2024, 12:02 p.m.
Panel Version: 6.3
Variants in CUX1 have been associated with Global developmental delay with or without impaired intellectual development (OMIM:618330). PMID: 37644171 reports epileptic seizures in 8/34 individuals carrying different CUX1 variants (supplementary table 1).
Sources: Literature
Created: 28 Aug 2024, noon

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Global developmental delay with or without impaired intellectual development, OMIM:618330; global developmental delay with or without impaired intellectual development, MONDO:0032680

Publications

Created: 28 Aug 2024, noon

Panel version: 7.39

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Global developmental delay with or without impaired intellectual development, OMIM:618330
  • global developmental delay with or without impaired intellectual development, MONDO:0032680
OMIM
116896
Clinvar variants
Variants in CUX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: CUX1. Tag Q3_24_NHS_review was removed from gene: CUX1.

24 Feb 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to CUX1. Source Expert Review Green was added to CUX1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

28 Aug 2024, Gel status: 2

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: CUX1. Tag Q3_24_NHS_review tag was added to gene: CUX1.

28 Aug 2024, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: cux1 has been classified as Amber List (Moderate Evidence).

28 Aug 2024, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: CUX1 was added gene: CUX1 was added to Early onset or syndromic epilepsy. Sources: Literature Mode of inheritance for gene: CUX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CUX1 were set to 37644171 Phenotypes for gene: CUX1 were set to Global developmental delay with or without impaired intellectual development, OMIM:618330; global developmental delay with or without impaired intellectual development, MONDO:0032680 Review for gene: CUX1 was set to GREEN