Locus | Chromosome location | Gene name | Protein name | Other ciliopathies | Key reference | Common mutation in population | Reference |
---|---|---|---|---|---|---|---|
MKS1 | 17q22 | MKS1 | MKS1 | BBS13 | [1] | Finnish - c. 1408-35_1408-7del29 | [1] |
MKS2 | 11q13.1 | TMEM216 | TMEM216 | JBTS2 | [2] | Ashkenazi - p.R73L | [2] |
11q12.2 | TMEM138 | TMEM138 | JBTS16 | [3] | |||
MKS3 | 8q22.1 | TMEM67 | MECKELIN | JBTS6, NPHP11 | [4] | Pakistani - c. 1575 + 1 G > A | [4] |
MKS4 | 12q21.32 | CEP290 | CEP290 | BBS14, JBTS5, LCA10, NPHP6, SLSN6 | [5] | ||
MKS5 | 16q12.2 | RPGRIP1L | RPGRIP1L | JBTS7, NPHP8 | [6] | Mixed European -p.T615P | [11] |
MKS6 | 4p15.33 | CC2D2A | CC2D2A | JBTS9 | [7] | Finnish - c. 1762 C > T | [7] |
MKS7 | 3q22.1 | NPHP3 | NPHP3 | NPHP3 | [8] | ||
MKS8 | 12q24.31 | TCTN2 | TCTN2 | [9] | |||
MKS9 | 17p11.2 | B9D1 | B9D1 | [10] |