2024-03-29 POMP - NM_015932.6 Location Usual name protein name Sequence change Alteration N base(s) Base substituted Classification Status Using In silico prediction? Fonctional test Functional approach? Consequence Techniques used Disease related symptoms Associated phenotype Zygosity in this patient Inheritance in this patient Ancestry/origin Comment Input date References Other PMID 5 flanking c.-95delC p.? c.-95delC deletion 1 C Pathogenic YES YES Cell free system Altered regulation Sequencing Sanger Symptomatic POMP-KLICK syndrome Unknown Unknown Spanish, Swedish, Norwegian, Italian /Caucasian 2019-06-05 Publication (PubMed PMID): 20226437 Exon 5 p.t111fs p.(Ile112Leufs*21) c.333del deletion 1 T Likely pathogenic YES NO Sequencing NGS Symptomatic POMP-PRAAS Heterozygous Unknown China/Asian 2024-03-03 Publication (PubMed PMID): 38111302 Exon 5 Ile112Trpfs*3 p.(Ile112Trpfs*3) c.334_335delAT deletion 2 AT Pathogenic YES YES Cell free system Premature termination Sequencing NGS Symptomatic POMP-PRAID Unknown Unknown United states/Caucasian 2019-06-05 Publication (PubMed PMID): 29805043 Exon 5 Phe114Leufs*18 p.(Phe114Leufs*18) c.342_348delinsACC delins 7 deleted/3 inserted TGAGGAT / ACC Pathogenic YES YES Cell free system Premature termination Sequencing NGS Symptomatic POMP-PRAID Unknown Unknown United states/Caucasian 2019-06-05 Publication (PubMed PMID): 29805043