Table 1.

Molecular genetic identification of the patient

Gene (Isoform)	Phenotype MIM number (Mode of inheritance)	Variant	Zygosity	MAF gnomAD [%]	Classification
SYNE1 (NM_033071.3)	618,484 (AR) 612,998(AD) 610,743 (AR)	c.23415-3799C>G p.(?) chr6:152,489,259	Homozygous	0	Variant of Uncertain Significance

Keywords

Gene: Approved HGNC gene symbol

Isoform: RefSeq accession number of the reported isoform

Phenotype MIM Number: ID of the Online Mendelian Inheritance in Man® (OMIM®) disease entry

Mode of inheritance: Supposed mode of inheritance for the described condition

Variant; Nucleotide and amino add change end position as well as genomic position (hg19)

Zygosity: Variant zygosity

MAF gnomAD: Minor allele frequency in the gnomAD database in %

Classification: classification of the variant based on the ACMG recommendations