Table 6.

Notable Ritscher-Schinzel Syndrome Pathogenic Variants by Gene

Gene 1

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
CCDC22 NM_014008​.4
NP_054727​.1 		c.1670A>Gp.Tyr557CysFunctional evidence demonstrates a loss-of-function mechanism [Voineagu et al 2012].
c.49A>Gp.Thr17Ala
WASHC5 NM_014846​.3
NP_055661​.3 		c.3335+2T>ANACommon variant in the FN population [Elliott et al 2013]

FN = First Nations; NA = not applicable

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.

Genes from Table 1 in alphabetic order.

From: Ritscher-Schinzel Syndrome

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