Genes are listed in alphabetic order.

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

All or almost all individuals with CACH/VWM have biallelic pathogenic variants identified in one of the five associated genes [Maletkovic et al 2008, van der Knaap et al 2010, Hamilton et al 2018].

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

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; 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.

Maletkovic et al [2008], Shimada et al [2015], Zhang et al [2015]

Alamri et al [2016]

This number reflects the number of unique variants reported. Some variants are recurrent (see Molecular Genetics).

A single multigene deletion including EIF2B2 has been reported [Shimada et al 2012].

Gowda et al [2017], Song et al [2017]

Kanbayashi et al [2015], Lynch et al [2017], Hettiaracchchi et al [2018]