cEDS = classic Ehlers-Danlos syndrome

Genes are listed in alphabetic order.

See Table A. Genes and Databases for chromosome locus and protein.

See Molecular Genetics for information on variants detected in this gene.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include missense, nonsense, and splice site variants and small intragenic deletions/insertions; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include a range of techniques such as quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications. In addition, in silico prediction software, such as ExomeDepth, is available for predicting deletions/duplications in large, comprehensive datasets (e.g., from exome sequencing).

Brady et al [2017], Malfait et al [2017], Colman et al [2021]

Large deletions in COL1A1 have not been reported in individuals with cEDS.

Symoens et al [2012], Ritelli et al [2013]

Data derived from the subscription-based professional view of Human Gene Mutation Database [Stenson et al 2020]