Other syndromic diseases

*= For these genes, an MLPA analysis may be performed as an additional diagnostic step.

Bardet-Biedl syndrome

Small panel (#28)

ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, LZTFL1, MKKS, MKS1, SDCCAG8, TTC8 
(14 genes, 24,2 kb)


Large panel (#71)

ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CCDC28B, CEP290, IFT27, IFT74, LZTFL1, MKKS, MKS1, SDCCAG8, TMEM67, TRIM32, TTC8, WDPCP
(22 genes, 42 kb)

Coffin-Siris syndrome

Small panel (#018): Coffin-Siris syndrome, genes according to Tsurusaki et al., Clin Genet 2014 and Wieczorek et al., Human Molecular Genetics 2013

ARID1A*, ARID1B*, PHF6, SMARCA4, SMARCB1, SMARCE1
(6 genes, 22,1 kb)


Single gene diagnostics:

ARID1A*, ARID1B*, PHF6, SMARCA4, SMARCB1, SMARCE1

Dystroglycanopathy

Large panel (#021): Dystroglycanopathy, congenital glycosylation disorder, genes according to NCBI GeneReviews, OMIM database

ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, B4GALT1, CAD, COG1, COG4, COG5, COG6, COG7, COG8, DDOST, DOLK, DPAGT1, DPM1, DPM2, DPM3, GMPPA, MAGT1, MAN1B1, MGAT2, MOGS, MPDU1, MPI, PGM1, 1. PMM2, RFT1, SLC35A1, SLC35A2, SLC35C1, SRD5A3, SSR4, STT3A, STT3B, TMEM165, TUSC3, PGM3
(43 genes, 70,22 kb)


Small panel (#022): Dystroglycanopathy, congenital glycosylation disorder, selection according to NCBI GeneReviews

ALG1, ALG12, ALG3, ALG6, ALG8, COG5, COG6, DPAGT1, DPM1, MPDU1, MPI, 1. PMM2, RFT1, SRD5A3, TMEM165, TUSC3, PGM3
(17 genes, 22,93 kb)

Epileptic encephalopathy

Large panel (#020): Epileptic encephalopathy in infants and children, genes according to McTague et al., Lancet Neurol 2016

AARS, ALG13, ARX, BRAT1, CACNA2D2, CDKL5, CHD2, DNM1, DOCK7, FLNA, FOXG1, GABRA1, GABRB3, GNAO1, GRIN1, GRIN2A, HCN1, IQSEC2, KCNA2, KCNQ2, KCNQ3, KCNT1, MEF2C, MTOR, NDP, NECAP1, NRXN1, PCDH19, PIGA, PLCB1, PTEN, QARS, SCN1A, SCN2A, SCN8A, SETBP1, SIK1, SLC12A5, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SPTAN1, ST3GAL3, STXBP1, TBC1D24, TCF4, WWOX
(49 genes, 150,25 kb)


Single gene diagnostics:

BRAT1, SCN2A

Jeune syndrome

Small panel (#40)

DYNC2H1, EVC, EVC2, IFT80, WDR34 
(5 genes, 23,8 kb)


Large panel (#69)

CEP120, DYNC2H1, DYNC2LI1, EVC, EVC2, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, KIAA0586, NEK1, TTC21B, WDR19, WDR34, WDR35, WDR60
(18 genes, 66,7 kb)

Joubert syndrome

Small panel (#024)

AHI1, CC2D2A, CEP290, RPGRIP1L, TMEM138, TMEM216, TMEM237, TMEM67 
(8 genes, 24,9 kb)


MLPA: NPHP1


Large panel (#025)

AHI1, ARL13B, ATXN10, B9D1, B9D2, C5ORF42, CC2D2A, CEP104, CEP290, CEP41, CSPP1, INPP5E, KIAA0556/KATNIP, KIAA0586, KIF7, MKS1, NPHP1*, NPHP3, OFD1, PDE6D, POC1B, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, ZNF423 
(31 genes, 85,2 kb)


MLPA: NPHP1


Single gene diagnostics:

NPHP1*, NPHP3

Meckel-Gruber syndrome

Small panel (#26)

CC2D2A, CEP290, MKS1, RPGRIP1L, TMEM216, TMEM231, TMEM67 
(7 genes, 23,1 kb)


Large panel (#27)

B9D1, B9D2, CC2D2A, CEP290, KIF14, MKS1, NPHP3, RPGRIP1L, TCTN2, TMEM216, TMEM231, TMEM67 
(12 genes, 34,6 kb)

Contact

Prof. Dr. Christian Netzer
Telephone +49 221 478-89586
Email christian.netzer@uk-koeln.de

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Bardet-Biedl syndrome, Jeune syndrome, Joubert syndrome, Meckel-Gruber syndrome
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Coffin-Siris syndrome, dystroglycanopathy, epileptic encephalopathy
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