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Intellectual disability

Gene: CPLX1

Green List (high evidence)
CPLX1 (complexin 1)
EnsemblGeneIds (GRCh38): ENSG00000168993
EnsemblGeneIds (GRCh37): ENSG00000168993
OMIM: 605032, Gene2Phenotype
CPLX1 is in 3 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 11 Oct 2023, 9:34 a.m. | Last Modified: 11 Oct 2023, 9:34 a.m.
Panel Version: 5.286

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 11 Oct 2023, 9:34 a.m.
Last Modified: 11 Oct 2023, 9:34 a.m.
Panel version: 5.286

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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
Created: 28 Feb 2023, 4:53 p.m.
Last Modified: 28 Feb 2023, 4:53 p.m.
Copied from panel: Genetic epilepsy syndromes v3.90

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Five individuals from three unrelated families reported in larger neurodevelopmental cohorts.
Sources: Expert list
Created: 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

Created: 21 Jan 2020, 9:26 a.m.

Copied from panel: Genetic epilepsy syndromes v3.90

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Developmental and epileptic encephalopathy 63, OMIM:617976
  • developmental and epileptic encephalopathy, 63, MONDO:0033372
OMIM
605032
Clinvar variants
Variants in CPLX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Oct 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_23_promote_green was removed from gene: CPLX1.

11 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

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)

28 Feb 2023, Gel status: 2

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

Sarah Leigh (Genomics England Curator)

gene: CPLX1 was added gene: CPLX1 was added to Intellectual disability. Sources: Expert list,Expert Review Amber Q1_23_promote_green tags were added to gene: CPLX1. 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 Developmental and epileptic encephalopathy 63, OMIM:617976; developmental and epileptic encephalopathy, 63, MONDO:0033372