CEP = congenital erythropoietic porphyria

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

See Molecular Genetics for information on variants detected in these genes.

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.

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

Two gross deletions, two gross duplications, and one complex rearrangement have been reported [Boulechfar et al 1992, Shady et al 2002, Katugampola et al 2012a].

A GATA1 pathogenic variant (c.646C>T [p.Arg216Trp]) was identified in three unrelated individuals with CEP and hematologic abnormalities [Phillips et al 2007, Di Pierro et al 2015].