Table 1. List of genes responsible for JS and JSRDs among the Arabs.

JS Type	Gene symbol	Protein name	Locus	Inheritance	Alternative names	Phenotype MIM nb.
JBTS1	INPP5E	Inositol polyphosphate 5-phosphatase	9q34.3	AR	Joubert–Boltshauser syndrome Cerebelloparenchymal disorder iv; CPD4 Cerebellooculorenal syndrome 1; CORS1	213300
JBTS3	AHI1	Jouberin	6q23.3	AR		608629
JBTS4	NPHP1	Nephrocystin-1	2q13	AR		609583
JBTS5	CEP290	Centrosomal protein of 290 kDa	12q21.32	AR		610188
JBTS6	TMEM67	Meckelin	8q22.1	AR		610688
JBTS7	RPGRIP1L	Protein fantom	16q12.2	AR		611560
JBTS9	CC2D2A	Coiled-coil and C2 domain containing protein 2A	4p15.32		Joubert syndrome 9/15, digenic, included	612285
JBTS12	KIF7	Kinesin-like protein KIF7	15q26.1	AR	Hallux duplication, postaxial polydactyly and absence of corpus callosum Schinzel Acrocallosal syndrome Joubert syndrome 12/15, digenic, included	200990
JBTS13	TCTN1	Tectonic-1	12q24.11	AR		614173
JBTS14	TMEM237	Transmembrane protein 237	2q33.1	AR		614424
JBTS15	CEP41	Centrosomal protein of 41 kDa	7q32.2	AR	Joubert syndrome 12/15, digenic, included	614464
JBTS16	TMEM138	Transmembrane protein 138	11q12.2	AR		614465
JBTS17	C5orf42	Uncharacterized protein	5p13.2	AR		614615
JBTS18	TCTN3	Tectonic 3	10q24.1	AR		614815
TBTS21	CSPP1	centrosome/spindle pole-associated protein	8q13.1-q13.2	AR		615636

Abbreviations: AR, autosomal recessive; nb, number; JBTS, Joubert syndrome.