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4 Possible Causes for Mutation in the PRKACG Gene

  • Severe Autosomal Recessive Macrothrombocytopenia

    […] in the PRKACG gene on chromosome 9q21.[malacards.org] Exome sequencing revealed homozygous mutations in the coding exons of 2 genes: GNE and PRKACG.[doi.org] The second mutation, c.222C G, was found in the PRKACG gene and substitutes isoleucine for methionine at position 74 (p.74I M- NM_002732 ; Figure 4 ).[ncbi.nlm.nih.gov]

  • Quebec Platelet Disorder

    […] in the PRKACG gene (176893); BDPLT20 (616913), caused by mutation in the SLFN14 gene (614958); and BDPLT21 (617443), caused by mutation in the FLI1 gene (193067).[ncbi.nlm.nih.gov] ; BDPLT17 (187900), caused by mutation in the GFI1B gene (604383); BDPLT18 (615888), caused by mutation in the RASGRP2 gene (605577); BDPLT19 (616176), caused by mutation[ncbi.nlm.nih.gov] […] synthetase (TBXAS1; 274180); BDPLT15 (615193), caused by mutation in the ACTN1 gene (102575); BDPLT16 (187800), caused by mutation in the ITGA2B (607759) or ITGB3 (173470) gene[ncbi.nlm.nih.gov]

  • Bernard-Soulier Syndrome

    ; BDPLT17 (187900), caused by mutation in the GFI1B gene (604383); BDPLT18 (615888), caused by mutation in the RASGRP2 gene (605577); BDPLT19 (616176), caused by mutation[ncbi.nlm.nih.gov] […] in the PRKACG gene (176893); BDPLT20 (616913), caused by mutation in the SLFN14 gene (614958); BDPLT21 (617443), caused by mutation in the FLI1 gene (193067); and BDPLT22[ncbi.nlm.nih.gov] […] synthetase (TBXAS1; 274180); BDPLT15 (615193), caused by mutation in the ACTN1 gene (102575); BDPLT16 (187800), caused by mutation in the ITGA2B (607759) or ITGB3 (173470) gene[ncbi.nlm.nih.gov]

  • Gonadal Dysgenesis

    Sequence analysis of these genes in all patients revealed no additional mutations.[ncbi.nlm.nih.gov] A large duplication highlighting PIP5K1B, PRKACG and FAM189A2 as candidates for 46,XY GD, were also detected.[ncbi.nlm.nih.gov] An interstitial duplication of the SUPT3H gene and a deletion of C2ORF80 were detected in a pair of affected siblings.[ncbi.nlm.nih.gov]

Further symptoms