Data Sources

The NCBI ClinVar database aggregates interpretations of human genetic variants submitted by laboratories and researchers worldwide. CLTC variant classifications (Pathogenic, Likely Pathogenic, Variant of Uncertain Significance) used throughout this site are drawn from ClinVar records.

gnomAD aggregates exome and genome sequencing data from large population studies. Allele frequency estimates and constraint metrics (such as the pLI score) for the CLTC gene are sourced from gnomAD.

OMIM is the authoritative catalogue of human genes and genetic disorders. CLTC-ID is listed as MRD56 (entry #617854). Phenotype descriptions and inheritance mode are referenced from OMIM.

DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources) is an interactive database that maps patient genomic variants to phenotypic data. The CLTC gene entry provides clinical information including variant classifications and associated phenotypes submitted by diagnostic laboratories internationally.

The National Organization for Rare Disorders (NORD) disease summary for CLTC-Related Intellectual Disability. Provides a plain-language overview of the condition, including symptoms, causes, affected populations, standard therapies, and investigational treatments, written for patients, families, and non-specialist clinicians.

Case series, functional studies, and review articles indexed in PubMed form the backbone of clinical content on this site, including the 2016 Hamdan et al. case series that first described CLTC-ID, and subsequent reports from research groups worldwide.

A publicly accessible patient-driven registry that allows families to contribute de-identified data to researchers. Linked from the Family Track as a recommended action for affected families.

A research registry run by the Simons Foundation for rare neurodevelopmental gene disorders, including CLTC. Families can enroll to contribute data and be notified of relevant studies.

The Human Genome Variation Society nomenclature guidelines define the standardised notation (e.g. c.2804G>A, p.Arg935His) used on genetic reports and throughout this site to describe DNA and protein-level variants.