Table 4. [Congenital Erythropoietic Porphyria: Gene-Specific Laboratory Considerations]. - GeneReviews®

Gene	Special Consideration
UROS	Regulatory pathogenic variants, located in the erythroid-specific promoter region (intron 1 upstream of the exon 2 ATG), can be detected by sequence analysis when this DNA region is included in the analysis. See Table 5.
GATA1	To date, only one GATA1 variant (c.646C>T [p.Arg216Trp]) has been described as causative of CEP.

From: Congenital Erythropoietic Porphyria

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