Table 1 List of genes responsible for JS and JSRDs among the Arabs
From: Mutation spectrum of Joubert syndrome and related disorders among 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 | |
JBTS3 | AHI1 | Jouberin | 6q23.3 | AR | ||
JBTS4 | NPHP1 | Nephrocystin-1 | 2q13 | AR | ||
JBTS5 | CEP290 | Centrosomal protein of 290 kDa | 12q21.32 | AR | ||
JBTS6 | TMEM67 | Meckelin | 8q22.1 | AR | ||
JBTS7 | RPGRIP1L | Protein fantom | 16q12.2 | AR | ||
JBTS9 | CC2D2A | Coiled-coil and C2 domain containing protein 2A | 4p15.32 | Joubert syndrome 9/15, digenic, included | ||
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 | |
JBTS13 | TCTN1 | Tectonic-1 | 12q24.11 | AR | ||
JBTS14 | TMEM237 | Transmembrane protein 237 | 2q33.1 | AR | ||
JBTS15 | CEP41 | Centrosomal protein of 41 kDa | 7q32.2 | AR | Joubert syndrome 12/15, digenic, included | |
JBTS16 | TMEM138 | Transmembrane protein 138 | 11q12.2 | AR | ||
JBTS17 | C5orf42 | Uncharacterized protein | 5p13.2 | AR | ||
JBTS18 | TCTN3 | Tectonic 3 | 10q24.1 | AR | ||
TBTS21 | CSPP1 | centrosome/spindle pole-associated protein | 8q13.1-q13.2 | AR |
