Panel 14: Ciliopathies


This panel includes the following syndromes:

• Joubert Syndrome
• Bardet-Biedl Syndrome
• Meckel-Gruber Syndrome
• Alstrom Syndrome
• Senior-Loken Syndrome
• Nephronophthisis

NMG14: Ciliopathies

Panel 14: Ciliopathies

Included genes:

INPP5E BBS1 MKS1 GLIS2
INVS ARL6 TMEM67 NEK8
AHI1 BBS5 TMEM138 INVS
NPHP1 BBS7 RPGRIP1L NPHP4
CEP290 TTC8 TCTN2 IQCB1
RPGRIP1L BBS9 B9D1 CEP164
ARL13B BBS10 B9D2 CEP41
CC2D2A BBS12 BBS4 WDR19
OFD1 BBS2 NPHP3 TMEM216
TTC21B MKKS SDCCAG8 TMEM231
KIF7 TRIM32 C5ORF42 TMEM237
TCTN1 WDPCP ZNF423 ALMS1
TCTN3 CCDC28B

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