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Intellectual disability
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Intellectual disability

For any questions regarding clinical issues, please get in contact with Prof. Dr. C. Netzer, MD (+49-221-478-89586, [Email protection active, please enable JavaScript.]). The panel diagnostics request form (German) for intellectual disability is available here.

 

Mental retardation

complete panel (#017): mental retardation, genes from the SysID database (Kochinke K, Zweier C, et al., 2016)

(867 genes, 2139.91 kb)

 

Coffin-Siris syndrome

standard panel (#018): Coffin-Siris syndrome, genes according to Tsurusaki et al., Clin Genet 2014 und Wieczorek et al., Human Molecular Genetics 2013
ARID1A*, ARID1B*, PHF6, SMARCA4, SMARCB1, SMARCE1

(6 genes, 22.1 kb)

 

single gene diagnostics:

ARID1A*, ARID1B*, PHF6, SMARCA2, SMARCA4, SMARCB1, SMARCE1

Cornelia-de-Lange syndrome

standard panel (#019): Cornelia-de-Lange syndrome, genes according to NCBI Genereviews
HDAC8, 1. NIPBL*, RAD21, SMC1A, SMC3

(5 genes, 18.8 kb)

 

Dystroglycanopathies

complete panel (#021): Dystroglycanopathies, congenital disorders of glycosylation, 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)

 

standard panel (#022): Dystroglycanopathies, congenital disorders of glycosylation, genes 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

complete panel (#020): Epileptic encephalopathies of infancy and childhood, 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

 

Primary microcephaly

standard panel
ASPM, MCPH1, WDR62, CEP152

(4 genes, 22.5 kb)

 

Seckel syndrome

standard panel
CEP152, ATR, ATRIP, CENPJ, RBBP8
(5 genes, 22 kb)