Other

Analysis of all known genes associated with other diseases

GC_11 Overgrowth and Macrocephaly Syndrome

Overgrowth and macrocephaly syndromes are a heterogeneous group of genetic disorders characterized by generalized or segmental overgrowth, macrocephaly, and variable developmental, cutaneous, vascular, and other systemic manifestations. Some conditions are also associated with increased tumor risk or somatic mosaicism.

This panel includes genes associated with major pathways involved in growth regulation, including PI3K-AKT-mTOR signaling, RAS-MAPK signaling, genomic imprinting, and chromatin regulation. It covers disorders such as PTEN hamartoma tumor syndrome, Sotos syndrome, Beckwith-Wiedemann spectrum, PIK3CA-related overgrowth spectrum, and other syndromic or mosaic overgrowth conditions.

This panel is recommended for patients with generalized or segmental overgrowth and/or macrocephaly, particularly when accompanied by developmental delay or autism spectrum features, vascular or skin abnormalities, congenital anomalies, or features suggesting tumor predisposition.

Last update: 27.01.2026

ABCC9, AKT1, AKT2, AKT3, APC2, ARAF, ASPA, ASXL2, BRWD3, CCDC88C, CCND2, CDKN1C, CHD3, CHD4, CHD8, CRADD, CUL4B, DHCR24, DICER1, DIS3L2, DNMT3A, EED, EIF2B5, EXT2, EZH2, GCDH, GFAP, GJA4, GLI3, GNAQ, GNAS, GPC3, GPRC5B, GPSM2, GRIA3, H1-4, H19, HEPACAM, HERC1, HRAS, HUWE1, IGF2, KCNQ1OT1, KDM1A, KIF7, KPTN, L1CAM, MAX, MED12, MITF, MLC1, MPDZ, MTOR, MYCN, NF1, NFIA, NFIB, NFIX, NLRP2, NONO, NPR2, NSD1, OFD1, PADI6, PAK1, PDGFRB, PHF21A, PHF6, PIGA, PIK3CA, PIK3R1, PIK3R2, PPP1CB, PPP2CA, PPP2R1A, PPP2R5B, PPP2R5C, PPP2R5D, PTCH1, PTEN, RAB39B, RASA1, RIN2, RNF125, RNF135, SETD2, SOS1, SPRED1, STRADA, SUFU, SUZ12, SYN1, TBC1D7, TCF20, TMEM94, TRIM71, TRIO, TSC1, TSC2, UPF3B, WASHC5, WDFY3, ZBTB20, ZBTB7A

ClinVar P/LP variants (IDs) not covered: DICER1:[3840007] | NF1:[242478]; [3404745] | OFD1:[375728] | PTEN:[2587202]

GC_34 Cornelia de Lange syndrome

Cornelia de Lange syndrome (CdLS) is a multisystem developmental disorder characterized by prenatal and postnatal growth restriction, characteristic craniofacial features, developmental delay or intellectual disability, limb abnormalities, feeding difficulties, and congenital malformations. Clinical severity is highly variable, and the phenotype overlaps with other disorders affecting cohesin function and chromatin regulation.

This panel includes genes associated with Cornelia de Lange syndrome as well as related cohesinopathies and chromatin-regulation disorders with overlapping developmental phenotypes.

This panel is recommended for patients with clinical features suggestive of Cornelia de Lange syndrome or a related developmental disorder, particularly when characteristic facial features, growth restriction, developmental delay, limb abnormalities, or multiple congenital anomalies are present.

Last update: 19.01.2026

ADNP, AFF4, ANKRD11, ARID1A, ARID1B, BRD4, CREBBP, DPF2, EP300, ESCO2, HDAC8, KMT2A, MED13L, NIPBL, PHF6, PHIP, RAD21, SETD5, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SOX11, SRCAP, STAG1, STAG2, TAF1, TAF6, ZMYND11

ClinVar P/LP variants (IDs) not covered: ANKRD11:[1341548] | ARID1B:[3378371]

GC_78 Pancreatitis

Last update: 07.01.2026

APOA5, APOC2, CASR, CEL, CELA3B, CFTR, CPA1, CTRC, GPIHBP1, KRT8, PRSS1, SPINK1, TRPV6, UBR1

ClinVar P/LP variants (IDs) not covered: CFTR:[1705266]; [3385381]; [3572906]; [818230]; [4279028]

GC_79 Inherited bleeding disorders

Last update: 07.01.2026

ABCG5, ABCG8, ACTB, ACTN1, ACVRL1, ADAMTS13, ANKRD26, ANO6, AP3B1, AP3D1, ARPC1B, BLOC1S3, BLOC1S5, BLOC1S6, CALR, CD36, CD55, CDC42, CHST14, COL1A1, COL3A1, COL5A1, COL5A2, CYCS, DIAPH1, DTNBP1, EFL1, ENG, EPHB2, ETV6, F10, F11, F12, F13A1, F13B, F2, F2R, F5, F7, F8, F9, FERMT3, FGA, FGB, FGG, FLI1, FLNA, FYB1, GALE, GATA1, GBA, GFI1B, GGCX, GNE, GP1BA, GP1BB, GP6, GP9, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, HRG, IKZF5, ITGA2, ITGA2B, ITGB3, JAK2, KDSR, KLKB1, KNG1, LAT, LMAN1, LYST, MASTL, MCFD2, MECOM, MPIG6B, MPL, MRTFA, MYH9, NBEA, NBEAL2, ORAI1, P2RX1, P2RY12, PLA2G4A, PLAT, PLAU, PRKACG, PROC, PROS1, PTGS1, PTPN11, PTPRJ, RAP1B, RASGRP2, RBM8A, RGS2, RNU4ATAC, RUNX1, SERPINC1, SERPIND1, SERPINE1, SERPINF2, SLC35A1, SLC45A2, SLFN14, SMAD4, SRC, SRP54, STIM1, STXBP2, TBXA2R, TBXAS1, THBD, THPO, TNXB, TPM4, TRPM7, TUBB1, UNC13D, VIPAS39, VKORC1, VPS33B, VWF, WAS, WIPF1

GC_87 Kabuki syndrome

Last update: 04.01.2026

CHD7, EYA1, FLNB, HNRNPK, IRF6, KDM1A, KDM6A, KMT2D, SIX5

ClinVar P/LP variants (IDs) not covered: EYA1:4292662; 3897900

GC_88 Multisystem ciliopathy

Last update: 04.01.2026

ACVR2B, ADAMTS9, AHI1, AK7, ALG8, ALMS1, ANKS6, ARL13B, ARL3, ARL6, ARMC2, ARMC9, ATXN10, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C11ORF70, C21ORF2, C2CD3, C5ORF42, C8ORF37, CBY1, CC2D2A, CCDC103, CCDC32, CCDC39, CCDC40, CCDC65, CCNO, CCNQ, CELSR2, CENPF, CEP104, CEP120, CEP164, CEP19, CEP290, CEP41, CEP55, CEP83, CFAP221, CFAP298, CFAP300, CFAP410, CFAP418, CFAP43, CFAP47, CFAP57, CFAP74, CFTR, CILK1, CLUAP1, CPE, CPLANE1, CRB2, CSPP1, CTU2, CYS1, DAW1, DCDC2,

DDX59, DHCR7, DLG5, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH1, DNAH11, DNAH17, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB11, DNAJB13, DNAL1, DRC1, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DYNLT2B, DZIP1L, EVC, EVC2, EXOC3L2, EXOC8, FAM149B1, FAM186B, FAN1, FBN3, FGFR1, FGFR2, FGFR3, FOXJ1, GANAB, GAS2L2, GAS8, GLI2, GLI3, GLIS2, GRK2, HNF1B, HYDIN, HYLS1, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT57, IFT74, IFT80, IFT81, INPP5E, INTU, INVS, IQCB1, IQCE, KATNIP, KIAA0586,

KIAA0753, KIF14, KIF3B, KIF7, LAMA1, LBR, LEFTY2, LRP5, LRRC45, LRRC56, LRRCC1, LZTFL1, MAPKBP1, MCIDAS, MKKS, MKS1, MRE11, NEK1, NEK10, NEK8, NME5, NME8, NOTCH2, NPHP1, NPHP3, NPHP4, ODAD1, ODAD2, ODAD3, ODAD4, OFD1, PDE6D, PDIA6, PIAS1, PIBF1, PIK3C2A, PKD1, PKD2, PKHD1, PMM2, PNPLA6, POC1B, POC5, PRKACA, PRKACB, PRKCSH, PSKH1, RBM48, RCOR1, RPGR, RPGRIP1L, RSPH1, RSPH3, RSPH4A, RSPH9, SBDS, SCAPER, SCLT1, SDCCAG8, SEC63, SLC30A7, SPAG1, STK36, SUFU, TBC1D32, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM218, TMEM231, TMEM237, TMEM67, TOGARAM1, TP73, TRAF3IP1, TRAPPC3,

TRIM32, TTC21B, TTC26, TTC8, TXNDC15, USP9X, VPS13B, WDPCP, WDR19, WDR35, XPNPEP3, ZIC3, ZMYND10, ZNF423, ZSWIM6

ClinVar P/LP variants (IDs) not covered: CEP290:3774377 | CFTR:1705266; 3385381;

3572906; 818230; 4279028 | DNAI1:4526740 | OFD1:375728 | PKD1:3780893 | ZIC3:3233415