Table 1.

Co-segregation analysis, in silico pathogenicity assessment and genotyping of controls in included studies.

Authors	Year	Segregation analysis	In silico pathogenicity assessment			Genotyping of controls
			Conservation across species	MAF and zygosity search in public databases (Gnomad, ExAC, 1000 Genomes,..)	Prediction tool (s) for missense
Humbert et al.	2006	No	N.A	−	+, Unspecified tool	+
Mackay et al.	2010	Yes	N.A	−	−	+
Abu-safieh et al.	2013	Yes	+	−	+	+
Al rashed et al.	2012	Yes	−	−	+, Unspecified tool	−
Dessalces et al.	2013	Yes	N.A	−	−	+
Davidson et al.	2013	Yes	+	+	+	+
Coppieters et al.	2014	Yes	−	No	+	−
Méjécase et al.	2017	No	+	+	+	−
Gerth et al.	2017	Yes	−	+	+, Unspecified tool	−
Astuti et al.	2018	No	+	+	+	+
Albarry et al.	2019	Yes	−	−	+, Unspecified tool	−
Abu-Ameerh et al.	2019	Yes	+	+	+	−
Azab et al.	2019	Yes	−	+	+	−
Patel et al.	2016	Yes	+	+	+	−
Patel et al.	2018	Yes	−	+	+	−
Khan et al.	2015	No	N.A	−	+	+
Katsanis et. al	2001	Yes	+	−	−	+
Aldahmesh et al.	2009	Yes	+	−	−	+
Nair et al.	2017	Yes	N.A	+	N.A	−
Hmani-Aifa et al.	2009	Yes	+	−	−	+
Ksantini et al.	2012	Yes	−	−	−	+
Habibi et al.	2017	Yes	−	+	+	−
Habibi et al.	2016	Yes	+	+	+	−
Audo et al.	2018	Yes	+	+	+	−
Audo et al.	2017	Yes	+	+	+	−
Zobor et al.	2014	Yes	−	−	−	+
Hashmi et al.	2018	Yes	N.A	−	N.A	−
Jalkh et al.	2014	Yes	−	−	+	−
Khan et al.	2019	Yes	−	−	−	−
Khan AO	2019	Yes	−	−	−	−

In many studies, the conservation across species and predictions tools were not applicable since the identified variants were either insertion/deletions, splice sites, or nonsense.

MAF minor allele frequency, + yes, − no, N.A not applicable.