Table 1.

Summary of the genetic findings in this study.

Family ID	Proband accession	Sex	Method	Familial/segregates	Consang?	Ethnicity	Gene	Zygosity	Variants	ACMG class	Solved class
F1	P01131	F	Exome	AR/Y	N	MIXD	MFRP	Cmp HET	exon9:c.1022T>C:p.Leu341Pro	Path	S
									exon5:c.498delC:p.Asn167ThrfsTer25	Path
F2	P02210	M	Panel	S	N	EUWA	MFRP	Cmp HET	exon6:c.642-2A>G	LP	S
									exon9:c.1022T>C:p.Leu341Pro	Path
F3	P05188	M	Panel	S	N	EUWA	MFRP	Cmp HET	exon9:c.1090_1091delAC:p.Thr364GlnfsTer27	LP	S
									exon6:c.642-2A>G	LP
F4	P05208	F	Panel	AR	N	EUWA	MFRP	Cmp HET	exon9:c.1124 + 1G>T	LP	PS
									exon7:c.853 T>C:p.Cys285Arg	VUS
F5	D1108-01	F	Panel	S	N	EUWA	MFRP	Cmp HET	exon4:c.313delC:p.Leu105CysfsTer32 exon5:c.629G>T:p.Gly210Val	LP VUS	PS
F6	P04556	M	Panel	S	N	EUWA	MFRP	HET	exon9:c.1022 T>C:p.Leu341Pro	Path	U
F7	P05050	F	Panel	S	N	EUWA	MFRP	HET	exon8:c.907G>A:p.Gly303Arg	VUS	U
F8	P02228	M	Exome	AR/Y	N	EUWA	PRSS56	HOM	exon5:c.506C>A:p.Ala169Glu	VUS	PS
									exon4:c.425C>A:p.Thr142Lys	VUS
F9	MISC005-1	M	Panel	AR/Y	Y	EUWA	PRSS56	HOM	exon9:c.1066delC:p.Gln356ArgfsTer148	LP	S
F10	P04927	M	Panel	F	N	EUWA	PRSS56	Cmp HET	exon7:c.849 + 1G>T	Path	S
									exon9:c.1066dupC:p.Gln356ProfsTer152	LP
F11	P02206	M	Panel	AR	N	EUWA	PRSS56	Cmp HET	exon7:c.818G>C:p.Gly273Ala	VUS	PS
									exon8:c.961G>C:p.Val321Leu	VUS
F12	P05214	F	Panel	S	N	EUWA	PRSS56	HET	exon13:c.1651C>T:p.Leu551Phe	VUS	U
F13	P02367	M	Panel	S	N	EUWA	PRSS56	HET	exon6:c.661G>A:p.Ala221Thr	VUS	U
F14	P01811	F	Exome	AD/Y	N	EUWA	TMEM98	HET	exon7:c.602G>C:p.Arg201Pro	VUS	PS

ND not determined, AR autosomal recessive, AD autosomal dominant, S sporadic, F familial, Cmp compound, HET heterozygote, HOM homozygote, VUS variant of uncertain significance, transcripts used were as follows: MFRP , NM_031433.4; PRSS56, NM_01195129.1; TMEM98 , NM_001033504; ACMG American College of Medical Genetics, Path pathogenic, LP likely pathogenic, VUS variant of unknown significance, S solved, PS plausibly solved, U unsolved.