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Fig. 1 | BMC Medical Genomics

Fig. 1

From: Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families

Fig. 1

Genetic screening for disease-causing biallelic variants. All 1172 families presented with a likely autosomal recessive disorder for genetic counseling from 2010 through 2016, and underwent exome sequencing. In 413 families, no genetic diagnosis could be made despite ‘reflex to trio’ and ‘reflex to genome’. In 21 families a disease-causing variant was identified in a gene with a different inheritance pattern (i.e. de novo or X-linked), and both of these groups were excluded. In 739 families, a single variant was identified that was likely causative. Of these 233 occurred in genes not previously linked to disease and were initially excluded but in 88, subsequent variant re-interpretation following new publications allowed families to re-enroll. In all, 526 families with a pathogenic or likely pathogenic variant in a gene previously linked to a disease that was concordant with the phenotype of the older child or children in the family. (N - number of families)

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