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Table 5 Results of trio whole exome sequencing and significant findings

From: Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report

Gene (transcript) Nucleotide (protein) Zygosity Described by In silico parameters* MAF** Variant classification*** Disorder (OMIM# inheritance)
Index Mother Father
Hem. Het. Not described 2/4 Damaging Not
Significance uncertain (class 3) AFF2-related X-linked mental retardation (309,548, XLR)
c.325_339del (p.Val109_Ile113del) Hom. Het. Het. Not described In-frame small deletion Not
Significance uncertain (class 3) Neuronal ceroid lipofuscinosis type 7(610,951, AR)
  1. * number of in silico prediction programs that predict pathogenicity/all applicable programs (SIFT, PolyPhen-2, AlignGVD, MutationTaster), ** highest minor allele frequency (MAF) of representative population – Exome Aggregation Consortium (ExAC) database, Exome Sequencing Project (ESP), or 1000 Genomes Project (1000G), *** based on ACMG recommendations, ACMG American College of Medical Genetics and Genomics, AR autosomal recessive, hem hemizygous, het heterozygous, hom homozygous, MAF minor allele frequency, OMIM Online Mendelian Inheritance in Man, XLR X-Linked Recessive