CRELD1 Gene Info

CRELD1 (Cysteine Rich With EGF Like Domains 1) is a protein-coding gene and is located on the short (p) arm of chromosome 3. Sequence changes in the CRELD1 gene are typically associated with the cause of atrioventricular septal defect. 

​

The below gene databases provide more detailed information about the CRELD1 gene:

​

​

​

​

The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.

​

​

​

​

Ensembl is a genome browser for vertebrate genomes that supports research in comparative genomics, evolution, sequence variation and transcriptional regulation. Ensembl annotate genes, computes multiple alignments, predicts regulatory function and collects disease data. Ensembl tools include BLAST, BLAT, BioMart and the Variant Effect Predictor (VEP) for all supported species.

​

Medical Literature

The first scientific paper exploring the connection between CRELD1 and epilepsy has been published by Yale School of Medicine. The researchers sought to delineate a multisystem disorder caused by recessive CRELD1 variants. Biallelic variants in CRELD1 were found in 18 participants from 14 families. This patient cohort combined with experimental data provide evidence of a multisystem clinical syndrome mediated by recessive variants in CRELD1.

 

The paper can be accessed here: https://pubmed.ncbi.nlm.nih.gov/37947183/

​

CRELD1-related disorder is otherwise known as Jeffries-Lakhani Neurodevelopmental Syndrome, or JELANS. 

​