Table 6.

Notable GNB5 Pathogenic Variants

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
NM_016194​.4

NP_057278​.2

c.348_352delTAAGAp.Asp116GlufsTer52Recurrent variant reported in 2 northern European families [Malerba et al 2018, Vernon et al 2018]
c.262delGp.(Glu88ArgfsTer8)Recurrent variant reported in 2 families from Cambodia & China [Poke et al 2019, Mai et al 2020]
c.368C>Tp.Ser123LeuLodder et al [2016], Shamseldin et al [2016], Malerba et al [2018]; see Genotype-Phenotype Correlations.
c.368C>Gp.Ser123TrpDe Nittis et al [2021]; see Genotype-Phenotype Correlations.
c.1032C>Gp.(Tyr344Ter)Recurrent variant reported in 6 families from India & Pakistan [Lodder et al 2016, Poke et al 2019, De Nittis et al 2021]
c.1032C>Ap.(Tyr344Ter)Recurrent variant reported in 2 families from Pakistan [Poke et al 2019, Yazdani et al 2020]; de novo in 1 family [Tang et al 2020]

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.

From: GNB5-Related Neurodevelopmental Disorder

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