Saldino-Mainzer syndrome

Disease Export to PDF

Name:	Saldino-Mainzer syndrome
Description:	Saldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia.
ORPHAcode:	140969
Synonyms:	Conorenal syndrome Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome
XREF(s):	Orphanet OMIM OMIM MeSH ICD-10
Analyte(s):	IFT140 IFT172
Created:	13 May 2019 - 01:02
Changed:	22 Jun 2023 - 16:14

Related Genetic Tests

• Ciliopathy (gene panel)
• Ciliopathy / polycystic kidney and liver diseases / ADTKD/ nephronophtisis / Bardet-Biedl syndromes and kidney cancers (gene panel)
• cleft lip with/whitout cleft palate (virtual gene panel)

Related Laboratories

• Centre de Génétique Médicale UCL
• Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
• Centrum Medische Genetica - UZ Gent

Related Analytes

• IFT140
• IFT172

Related Gene Panels

• Ciliopathy (120 genes) - UGent
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ACVR2B	99.99	0
  ADAMTS9	99.94	0
  AHI1	99.86	0
  ALMS1	99.90	0
  ANKS6	100.00	0
  ARL13B	99.53	0
  ARL3	99.98	0
  ARL6	99.90	0
  ARMC9	99.77	0
  B9D1	99.80	0
  B9D2	99.88	0
  BBIP1	99.99	0
  BBS1	100.00	0
  BBS10	99.98	0
  BBS12	100.00	0
  BBS2	99.90	0
  BBS4	99.88	0
  BBS5	99.00	0
  BBS7	99.42	0
  BBS9	99.75	0
  C2CD3	99.88	0
  CBY1	100.00	0
  CC2D2A	99.95	0
  CCDC103	99.68	0
  CCDC172	99.85	0
  CCDC28B	99.99	0
  CCDC32	99.97	0
  CCDC39	99.74	0
  CCDC40	100.00	0
  CCDC65	99.80	0
  CCDC96	100.00	0
  CCNO	100.00	0
  CENPF	99.97	0
  CEP104	99.99	0
  CEP120	99.90	0
  CEP164	99.99	0
  CEP290	98.10	0
  CEP295	99.94	0
  CEP41	99.99	0
  CEP55	99.92	0
  CEP83	98.68	0
  CFAP251	99.98	0
  CFAP298	99.96	0
  CFAP300	99.47	0
  CFAP410	100.00	0
  CFAP418	100.00	0
  CFAP44	99.75	0
  CFAP53	99.95	0
  CFAP69	99.09	0
  CFC1	21.93	0
  CILK1	99.69	0
  CPLANE1	99.81	0
  CRB2	99.95	0
  CSPP1	98.31	0
  DCDC2	99.96	0
  DDX59	99.67	0
  DEUP1	99.86	0
  DHCR7	99.97	0
  DLG5	99.91	0
  DNAAF1	99.99	0
  DNAAF11	99.80	0
  DNAAF2	99.91	0
  DNAAF3	99.99	0
  DNAAF4	99.78	0
  DNAAF5	99.99	0
  DNAAF6	98.73	0
  DNAH1	99.98	0
  DNAH11	99.93	0
  DNAH5	99.98	0
  DNAH8	99.84	0
  DNAI1	99.92	0
  DNAI2	99.86	0
  DNAJB13	99.91	0
  DNAH9	99.79	0
  DRC1	99.93	0
  DYNC2H1	99.66	0
  DYNC2I1	99.99	0
  DYNC2I2	99.98	0
  DYNC2LI1	99.94	0
  DYNLT2B	100.00	0
  EVC	99.95	0
  EVC2	99.97	0
  EXOC3L2	99.88	0
  EXOC6B	99.41	0
  EXOC8	99.99	0
  EXTL3	99.99	0
  FAM149B1	99.69	0
  FAM166B	99.99	0
  FOXF1	99.99	0
  FUZ	99.99	0
  GAS2L2	100.00	0
  GAS8	100.00	0
  GLI3	100.00	0
  GLIS2	100.00	0
  HNF1B	100.00	0
  HYDIN	81.28	0
  HYLS1	100.00	0
  IFT122	99.98	0
  IFT140	100.00	0
  IFT172	99.98	0
  IFT27	100.00	0
  IFT43	99.97	0
  IFT52	99.82	0
  IFT74	99.71	0
  IFT80	99.69	0
  IFT81	94.64	0
  INPP5E	99.85	0
  INTS13	98.20	0
  INTU	99.92	0
  INVS	99.94	0
  IQCB1	99.72	0
  IQCE	99.77	0
  KATNIP	99.13	0
  KCTD3	99.75	0
  KIAA0586	95.75	0
  KIAA0753	100.00	0
  KIF14	97.80	0
  KIF3B	99.99	0
  KIF7	100.00	0
  LBR	99.66	0
  LCA5	99.89	0
  LRRC34	99.52	0
  LRRC45	99.98	0
  LRRC56	99.98	0
  LZTFL1	100.00	0
  MAPKBP1	99.98	0
  MCIDAS	100.00	0
  MKKS	100.00	0
  MKS1	99.92	0
  MMP21	99.99	0
  MRE11	99.93	0
  NCAPG2	99.97	0
  NEK1	99.83	0
  NEK9	99.96	0
  NME5	99.81	0
  NME8	99.83	0
  NPHP1	99.05	0
  NPHP3	99.89	0
  NPHP4	99.98	0
  OCRL	99.89	0
  ODAD1	96.04	0
  ODAD2	98.19	0
  ODAD3	99.96	0
  ODAD4	99.85	0
  OFD1	99.68	0
  PDE6D	99.94	0
  PIBF1	99.90	0
  PIK3C2A	99.92	0
  PKD1	99.98	0
  PKD2	99.91	0
  PKHD1	99.95	0
  PMFBP1	99.89	0
  PMM2	99.93	0
  POC1A	99.98	0
  POC1B	100.00	0
  RAB28	99.97	0
  RPGR	94.45	0
  RPGRIP1L	96.35	0
  RSPH1	99.87	0
  RSPH3	99.94	0
  RSPH4A	99.95	0
  RSPH9	99.99	0
  SBDS	99.93	0
  SCLT1	95.17	0
  SCNM1	99.47	0
  SDCCAG8	100.00	0
  SLC30A7	94.71	0
  SPAG1	99.78	0
  STK36	99.98	0
  SUFU	100.00	0
  TBC1D32	99.75	0
  TCTN1	99.92	0
  TCTN2	99.99	0
  TCTN3	99.92	0
  TMEM107	100.00	0
  TMEM138	100.00	0
  TMEM17	99.96	0
  TMEM216	99.98	0
  TMEM218	99.94	0
  TMEM231	88.88	0
  TMEM237	99.30	0
  TMEM260	99.90	0
  TMEM67	99.69	0
  TOGARAM1	99.93	0
  TOPORS	99.99	0
  TRAF3IP1	99.96	0
  TRIM32	100.00	0
  TTC21B	99.50	0
  TTC23	99.87	0
  TTC26	99.97	0
  TTC6	99.77	0
  TTC8	99.67	0
  TUBGCP4	99.80	0
  TULP1	99.99	0
  TULP3	99.91	0
  TXNDC15	99.78	0
  VHL	100.00	0
  VPS13B	99.90	0
  WDPCP	99.87	0
  WDR19	99.80	0
  WDR35	99.92	0
  XPNPEP3	99.99	0
  ZFYVE19	99.99	0
  ZIC3	99.90	0
  ZMYND10	99.99	0
  ZNF423	98.94	0
  ZSWIM6	98.94	0

• Ciliopathy, polycystic kidney and liver diseases, ADTKD, nephronophtisis, Bardet-Biedl syndromes and kidney cancers (146 genes) - IPG
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ADAMTS9	100.00	1	NM_182920.2
  ALG8	100.00	1	NM_024079.5
  ANKS6	100.00	1	NM_173551.5
  ARL6	100.00	1	NM_001278293.3
  BBIP1	100.00	1	NM_001195305.3
  BBS1	100.00	1	NM_024649.5
  BBS10	100.00	1	NM_024685.4
  BBS12	100.00	1	NM_152618.3
  BBS2	100.00	1	NM_031885.5
  BBS4	100.00	1	NM_033028.5
  BBS5	100.00	1	NM_152384.3
  BBS7	100.00	1	NM_176824.3
  BBS9	100.00	1	NM_198428.3
  CDC73	100.00	1	NM_024529.5
  CEP164	100.00	1	NM_014956.5
  CEP290	100.00	1	NM_025114.4
  CEP83	100.00	1	NM_016122.3
  COL4A1	100.00	1	NM_001845.6
  COL4A3	100.00	1	NM_000091.5
  COL4A4	100.00	1	NM_000092.5
  COL4A5	100.00	1	NM_033380.3
  DCDC2	100.00	1	NM_016356.5
  DNAJB11	100.00	1	NM_016306.6
  DZIP1L	100.00	1	NM_173543.3
  EYA1	100.00	1	NM_000503.6
  FAN1	100.00	1	NM_014967.5
  FH	100.00	1	NM_000143.4
  FLCN	100.00	1	NM_144997.7
  GANAB	100.00	1	NM_198334.3
  GATA3	100.00	1	NM_001002295.2
  GATM	100.00	1	NM_001482.3
  GLIS2	100.00	1	NM_032575.3
  HNF1B	100.00	1	NM_000458.4
  IFT172	100.00	1	NM_015662.3
  IFT27	100.00	1	NM_001177701.3
  INVS	100.00	1	NM_014425.5
  IQCB1	100.00	1	NM_001023570.4
  LRP5	100.00	1	NM_002335.4
  LRP6	100.00	1	NM_002336.3
  LZTFL1	100.00	1	NM_020347.4
  MAPKBP1	100.00	1	NM_014994.3
  MET	100.00	1	NM_000245.4
  MKKS	100.00	1	NM_170784.3
  MKS1	100.00	1	NM_017777.4
  NEK8	100.00	1	NM_178170.3
  NOTCH2	99.00	1	NM_024408.4
  NPHP1	100.00	1	NM_001128178.3
  NPHP3	100.00	1	NM_153240.5
  NPHP4	100.00	1	NM_015102.5
  OFD1	100.00	1	NM_003611.3
  PAX2	100.00	1	NM_000278.5
  PKD1	100.00	1	NM_001009944.3
  PKD2	100.00	1	NM_000297.4
  PKHD1	100.00	1	NM_138694.4
  PMM2	0.00	1	NM_000303.2 une seule position
  PRKCSH	100.00	1	NM_001289104.2
  PTEN	100.00	1	NM_000314.8
  REN	100.00	1	NM_000537.4
  RPGRIP1L	96.00	1	NM_015272.5
  SDCCAG8	100.00	1	NM_006642.5
  SDHB	100.00	1	NM_003000.3
  SDHD	100.00	1	NM_003002.4
  SEC61A1	100.00	1	NM_013336.4
  SEC63	100.00	1	NM_007214.5
  TMEM67	100.00	1	NM_153704.6
  TRIM32	100.00	1	NM_012210.4
  TSC1	100.00	1	NM_000368.5
  TSC2	100.00	1	NM_000548.5
  TTC21B	100.00	1	NM_024753.5
  TTC8	100.00	1	NM_144596.4
  UMOD	100.00	1	NM_003361.4
  VHL	100.00	1	NM_000551.4
  WDPCP	100.00	1	NM_015910.7
  WDR19	100.00	1	NM_025132.4
  XPNPEP3	100.00	1	NM_022098.4
  ZNF423	100.00	1	NM_001379286.1
  AHI1	100.00	1	NM_001134831.2
  ALG5	100.00	1	NM_013338.5
  ALG9	100.00	1	NM_024740.2
  ARL13B	100.00	1	NM_001174150.2
  ARL3	100.00	1	NM_004311.4
  ARMC9	100.00	1	NM_001352754.2
  ATXN10	100.00	1	NM_013236.4
  B9D1	100.00	1	NM_015681.6
  B9D2	100.00	1	NM_030578.4
  BAP1	100.00	1	NM_004656.4
  C2CD3	100.00	1	NM_001286577.2
  CC2D2A	100.00	1	NM_001378615.1
  CCDC28B	100.00	1	NM_024296.5
  CEP104	100.00	1	NM_014704.4
  CEP120	100.00	1	NM_001375405.1
  CEP41	100.00	1	NM_018718.3
  CFAP418	100.00	1	NM_177965.4
  CPLANE1	100.00	1	NM_001384732.1
  CSPP1	100.00	1	NM_001382391.1
  CYP24A1	100.00	1	NM_000782.5
  DLG5	100.00	1	NM_004747.4
  DYNC2H1	100.00	1	NM_001377.3
  DYNC2I1	100.00	1	NM_018051.5
  DYNC2I2	100.00	1	NM_052844.4
  DYNC2LI1	100.00	1	NM_016008.4
  DYNLT2B	100.00	1	NM_152773.5
  EVC	100.00	1	NM_153717.3
  EVC2	100.00	1	NM_147127.5
  FAM149B1	100.00	1	NM_173348.2
  HNF1A	100.00	1	NM_000545.8
  HYLS1	100.00	1	NM_001134793.2
  IFT122	100.00	1	NM_052989.3
  IFT140	100.00	1	NM_014714.4
  IFT43	100.00	1	NM_001102564.3
  IFT52	100.00	1	NM_016004.5
  IFT74	100.00	1	NM_025103.4
  IFT80	100.00	1	NM_020800.3
  IFT81	100.00	1	NM_014055.4
  INPP5E	100.00	1	NM_019892.6
  INTU	100.00	1	NM_015693.4
  JAG1	100.00	1	NM_000214.3
  KATNIP	100.00	1	NM_015202.5
  KIAA0586	100.00	1	NM_001329943.3
  KIAA0753	100.00	1	NM_014804.3
  KIF14	100.00	1	NM_014875.3
  KIF7	100.00	1	NM_198525.3
  NEK1	100.00	1	NM_001199397.3
  PARN	100.00	1	NM_002582.4
  PDE6D	100.00	1	NM_002601.4
  PIBF1	100.00	1	NM_006346.4
  POC1B	100.00	1	NM_172240.3
  RNF139	100.00	1	NM_007218.4
  SDHA	100.00	1	NM_004168.4
  SDHC	100.00	1	NM_003001.5
  SEC61B	100.00	1	NM_006808.3
  SLC41A1	100.00	1	NM_173854.6
  SREBF1	100.00	1	NM_004176.5
  SUFU	100.00	1	NM_016169.4
  TCTN1	100.00	1	NM_001082538.3
  TCTN2	100.00	1	NM_024809.5
  TCTN3	100.00	1	NM_015631.6
  TFAP2A	100.00	1	NM_001372066.1
  TMEM107	100.00	1	NM_183065.4
  TMEM138	100.00	1	NM_016464.5
  TMEM216	100.00	1	NM_001173990.3
  TMEM218	100.00	1	NM_001258244.2
  TMEM231	100.00	1	NM_001077418.3
  TMEM237	100.00	1	NM_001044385.3
  TOGARAM1	100.00	1	NM_001308120.2
  TRAF3IP1	100.00	1	NM_015650.4
  TXNDC15	100.00	1	NM_024715.4
  WDR35	100.00	1	NM_020779.4

• Cleft lip and palate / dysmorphic facial features / craniofacial anomalies (255 genes)) - UCL
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ACBD5	99.02	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  ACTB	99.66	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  ACTG1	99.69	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  ALG9	98.59	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  ALX1	99.44	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  ALX3	94.97	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  AMER1	99.32	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  ANKRD11	97.83	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  ARCN1	95.67	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  ARHGAP29	98.59	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  ARHGAP31	99.24	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  ASXL1	99.06	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  ATR	98.68	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  ATRX	95.19	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  B3GALT6	73.48	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  B3GLCT	95.09	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  B3GAT3	99.41	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  B4GALT7	93.74	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  BCOR	97.89	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  BMP2	99.19	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  BMP4	98.86	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  BUB1B	98.64	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  C2CD3	98.74	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  CPLANE1	98.74	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  CANT1	98.01	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  CASK	95.53	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  CC2D2A	98.44	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  CDC45	99.12	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  CDH1	96.99	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  CDKN1C	84.75	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  CHD1	98.24	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  CHD7	98.93	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  CHRNG	98.79	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  CHST14	97.60	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  CHSY1	93.19	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  CKAP2L	99.02	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  COL11A1	98.75	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  COL11A2	99.18	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  COL2A1	99.37	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  COL9A1	99.03	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  COL9A2	98.84	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  COL9A3	94.99	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  COLEC10	98.49	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  COLEC11	99.54	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  CTCF	98.66	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  CTNND1	98.92	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  DDX3X	94.27	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  DDX59	98.52	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  DHCR7	99.19	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  DHODH	98.80	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  DIS3L2	98.60	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  DLG1	97.91	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  DLL4	99.12	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  DLX4	98.90	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  DNMT3B	99.05	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  DOCK6	98.76	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  DVL1	99.36	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  DVL3	98.58	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  DYNC2H1	97.50	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  DYNC2LI1	98.39	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  EBP	98.35	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  EDN1	98.64	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  EDNRA	99.01	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  EFNB1	98.26	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  EFTUD2	97.81	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  EIF2S3	97.53	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  EIF4A3	99.29	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  EOGT	89.16	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  EPG5	98.75	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  SELENOI	98.42	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  ESCO2	97.31	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  ESRP2	98.80	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  EYA1	98.89	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  FAM111A	99.36	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  FAM20C	95.32	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  FANCL	99.05	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  FBXO11	97.46	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  FGD1	95.34	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  FGFR1	98.82	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  FGFR2	99.27	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  FLNA	98.22	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  FLNB	98.65	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  FOXC2	91.54	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  FOXE1	85.61	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  FOXP2	98.67	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  FRAS1	98.69	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  FREM2	99.03	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  FTO	99.12	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  GATA3	98.80	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  GATA6	89.01	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  GDF1	74.76	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  GJA1	99.61	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  GLI3	99.03	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  GMNN	96.00	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  GNAI3	97.68	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  GNB1	98.26	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  GPC3	95.58	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  GRHL3	98.63	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  GRIP1	99.24	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  GYPE	96.86	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  HDAC8	97.37	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  HOXA2	98.09	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  HYLS1	99.33	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  CILK1	98.21	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  IFT140	98.96	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  IFT172	99.18	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  IFT52	98.26	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  IFT80	98.19	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  BPNT2	98.74	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  INTS1	98.84	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  IRF6	98.57	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  KANSL1	99.21	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  KAT6A	99.21	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  KAT6B	98.93	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  KCNJ2	99.60	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  KDM1A	97.34	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  KDM6A	94.98	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  WASHC5	98.05	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  KIAA0586	93.67	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  KIFBP	99.06	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  KIF22	98.55	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  KIF7	95.81	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  KMT2D	99.42	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  LMNA	98.34	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  LMX1B	99.48	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  MAP3K7	98.76	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  MAPRE2	99.06	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  MASP1	99.11	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  MBTPS2	97.08	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  MED12	97.56	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  MED13L	99.16	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  MED25	97.71	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  MEIS2	99.34	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  MEOX1	98.59	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  METTL23	99.44	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  MID1	97.97	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  MKS1	98.50	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  MSX1	97.33	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  NBN	98.52	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  NEDD4L	98.26	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  NEK1	98.70	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  NIPBL	98.36	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  NOTCH1	98.71	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  NSDHL	98.23	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  OFD1	92.64	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  PAX3	99.25	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  PGAP2	99.35	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  PGM1	97.96	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  PHF8	97.80	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  PHGDH	99.01	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  PIEZO2	98.41	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  PIGA	95.72	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  PIGL	99.37	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  PIGN	97.14	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  PIGV	99.40	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  PIK3R2	91.88	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  PLCB4	98.47	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  PLEKHA5	98.64	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  PLEKHA7	98.78	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  POLR1A	98.85	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  POLR1C	99.19	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  POLR1D	94.63	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  POMT1	99.18	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  POMT2	98.02	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  PORCN	98.19	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  PQBP1	97.76	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  PSAT1	99.13	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  PTCH1	97.93	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  PTDSS1	99.26	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  NECTIN1	99.17	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  RAI1	99.36	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  RARB	99.16	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  RBM10	96.69	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  RBM8A	99.51	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  RBPJ	99.34	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  ROR2	97.51	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  RPL11	98.92	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  RPL5	99.03	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  RPS17	23.41	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  RPS19	98.57	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  RPS26	99.05	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  RPS28	98.92	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  RSPO2	99.51	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  RYR1	97.29	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  SALL4	99.46	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  SATB2	99.10	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  SCARF2	92.67	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  SEC23A	98.45	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  SF3B4	98.79	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  SHH	96.34	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  SIX1	99.06	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  SIX3	97.42	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  SIX5	95.99	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  SKI	94.22	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  SLC26A2	99.37	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  SMAD2	98.98	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  SMAD3	98.76	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  SMAD4	98.88	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  SMC1A	97.25	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  SMC3	98.17	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  SMG9	98.75	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  SMOC1	99.21	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  SMS	92.24	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  SNRPB	98.79	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  SON	99.30	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  SOX2	98.45	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  SOX9	98.24	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  SPECC1L	99.14	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  STAMBP	98.96	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  STIL	98.89	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  STRA6	98.13	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  STXBP1	99.15	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  SUMO1	99.29	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  TBX1	78.98	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  TBX15	99.05	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  TBX22	98.10	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  TCOF1	98.78	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  TCTN3	99.11	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  TELO2	98.18	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  TFAP2A	98.89	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  TFAP2B	99.41	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  TGDS	98.48	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  TGFB2	99.03	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  TGFB3	98.59	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  TGFBR1	94.09	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  TGFBR2	99.19	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  TMCO1	94.65	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  MYMK	99.30	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  TP63	98.96	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  TRAPPC9	98.84	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  TRIM37	98.72	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  TSR2	93.37	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  TTC21B	98.73	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  TUBB	99.76	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  TWIST2	99.02	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  TXNL4A	99.36	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  UBB	99.73	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  UQCC2	99.28	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  USP9X	95.07	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  VAX1	87.54	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  WDR19	98.24	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  DYNC2I2	98.11	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  WDR35	98.76	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  DYNC2I1	98.63	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  WNT3	98.41	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  WNT5A	98.46	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  XYLT1	89.98	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  YAP1	97.50	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  ZBTB24	99.57	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  ZEB2	98.72	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  ZIC2	87.82	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  ZIC3	98.69	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  ZMPSTE24	97.91	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)
  ZSWIM6	88.46	0	Panel Cleft Lip Palate (Exome Plus RefSeq Twist Bioscience)