Table 7.

Notable IRF6 Pathogenic Variants

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
NM_006147​.4
NP_006138​.1 		c.250C>Gp.Arg84GlySeen only in persons w/VWS 1
c.251G>Cp.Arg84Pro
c.251G>Ap.Arg84HisMost commonly seen in persons w/PPS 1
c.250C>Tp.Arg84Cys
c.-3-3C>A

–

Reported in 1 person w/spina bifida [Kousa et al 2019]
c.1279G>Tp.Asp427TyrReported in 1 person w/spina bifida [Kousa et al 2019]

PPS = popliteal pterygium syndrome; VWS = Van der Woude syndrome

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

From: IRF6-Related Disorders

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