Early onset or syndromic epilepsy
Gene: CPLX1
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 11:59 a.m. | Last Modified: 11 Oct 2023, 11:59 a.m.
Panel Version: 4.110
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Associated with Developmental and epileptic encephalopathy 63 (OMIM:617976), but not associated with a phenotype in Gen2Phen. Three CPLX1 variants have been reported in three unrelated cases, who all have intellectual disability and seizures (PMID:26539891; 28422131).Created: 28 Feb 2023, 4:57 p.m. | Last Modified: 28 Feb 2023, 4:57 p.m.
Panel Version: 3.90
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 28 Feb 2023, 4:53 p.m. | Last Modified: 28 Feb 2023, 4:53 p.m.
Panel Version: 3.90
Five individuals from three unrelated families reported in larger neurodevelopmental cohorts.
Sources: Expert listCreated: 21 Jan 2020, 9:26 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 63, MIM# 617976
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q1_23_promote_green was removed from gene: CPLX1.
Source NHS GMS was added to CPLX1. Source Expert Review Green was added to CPLX1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: cplx1 has been classified as Amber List (Moderate Evidence).
Tag Q1_23_promote_green tag was added to gene: CPLX1.
Phenotypes for gene: CPLX1 were changed from Epileptic encephalopathy, early infantile, 63, MIM# 617976 to Developmental and epileptic encephalopathy 63, OMIM:617976; developmental and epileptic encephalopathy, 63, MONDO:0033372
Gene: cplx1 has been classified as Amber List (Moderate Evidence).
gene: CPLX1 was added gene: CPLX1 was added to Genetic epilepsy syndromes. Sources: Expert list Mode of inheritance for gene: CPLX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPLX1 were set to 26539891; 28422131 Phenotypes for gene: CPLX1 were set to Epileptic encephalopathy, early infantile, 63, MIM# 617976 Review for gene: CPLX1 was set to GREEN gene: CPLX1 was marked as current diagnostic