Disease Disease
OMIM
Gene Gene
OMIM
Chromosomal
location

Craniofacial disorders and skeletal dysplasias

Craniosynostosis, syndromic

Apert syndrome 101200 176943 10q26.13
Beare-Stevenson cutis gyrata syndrome 123790 176943 10q26.13
Craniofrontonasal syndrome 304110 300035 Xq13.1
Crouzon syndrome (Craniofacial Dysostosis, Type I) 123500 176943 10q26.13
Crouzon syndrome with acanthosis nigricans 612247 134934 4p16.3
Jackson-Weiss syndrome 123150 FGFR2
FGFR1
176943
136350
10q26.13
8p11.23-p11.22
Muenke syndrome 602849 134934 4p16.3
Pfeiffer syndrome (Acrocephalosyndaktyly Typ V) 101600 FGFR1
FGFR2
FGFR3
136350
176943
134934
8p11.23-p11.22
10q26.13
4p16.3
Saethre-Chotzen syndrome 101400 601622 7p21.1

Others

Achondroplasia 100800 FGFR3 134934 4p16.3
Achondrogenesis, type IA 200600 TRIP11 604505 14q32.12
Achondrogenesis, type IB 600972 SLC26A2 606718 5q32
Acrofacial dysostosis 1, Nager type 154400 SF3B4 605593 1q21.2
Antley-Bixler syndrome 207410
201750
FGFR2
POR
176943
124015
10q26.13
7q11.23
Atelosteogenesis, type I 108720 FLNB 603381 3p14.3
Atelosteogenesis, type II 256050 SLC26A2 606718 5q32
Atelosteogenesis, type III 108721 FLNB 603381 3p14.3
Basal cell nevus syndrome/Gorlin-Goltz syndrome (+MLPA) 109400
605462
PTCH1
PTCH2
601309
603673
9q22.32
1p34.1
Boomerang dysplasia 112310 FLNB 603381 3p14.3
Branchiooculofacial syndrome 113620 TFAP2A 107580 6p24.3
Branchiootorenal syndrome (+MLPA) 113650
608389
610896
EYA1
SIX1
SIX5
601653
601205
600963
8q13.3
14q23.1
19q13.32
Diastrophic dysplasia (DTD) 222600 SLC26A2 606718 5q32
EEC3 syndrome 604292 p63 603273 3q28
Ellis-van Creveld syndrome (+Linkage) 225500 EVC
EVC2
604831
607261
4p16.2
4p16.2
Epiphyseal dysplasia, multiple, 4 (EDM4) 226900 SLC26A2 606718 5q32
Frontometaphyseal dysplasia 305620 FLNA NM 300017 Xq28
Greig Cephalopolysyndaktyly syndrome (+MLPA) 603543 p63 603273 3q28
Hay-Wells syndrome 175700 GLI3 HPE 165240 7p14.1
Hypochondroplasia 106260 p63 603273 3q28
Lacrimoauriculodentodigital syndrome (LADD) (+MLPA) 146000 FGFR3 134934 4p16.3
Larsen syndrome, autosomal-dominant 149730 FGFR3
FGF10
FGFR2
134934
602115
176943
4p16.3
5p12
10q26.13
Limb-mammary syndrome 150250 FLNB 603381 3p14.3
Mandibulofacial dysostosis with microcephaly 610536 EFTUD2 603892 17q21.31
Melnick-Needles syndrome 309350 FLNA NM 300017 Xq28
Microtia, hearing impairment and cleft palate 612290 HOXA2 604685 7p15.2
Osteoglophonic dysplasia 166250 FGFR1 136350 8p11.23-p11.22
Otofaciocervical syndrome (+MLPA) 166780 EYA1 601653 8q13.3
Otopalatodigital syndrome, type I 311300 FLNA NM 300017 Xq28
Otopalatodigital syndrome, type II 304120 FLNA NM 300017 Xq28
Pallister-Hall syndrome (+MLPA) 146510 GLI3 HPE 165240 7p14.1
Popliteal pterygium syndrome 1 (+MLPA) 119500 IRF6 607199 1q32.2
Rapp-Hodgkin syndrome 129400 p63 603273 3q28
Simpson-Golabi-Behmel syndrome (+MLPA) 312870 GPC3 NM
GPC4 (nur MLPA)
300037
300168
Xq26.2
Xq26.2
Split-hand/foot malformation 4 605289 p63 603273 3q28
Spondylocarpotarsal synostosis syndrome 272460 FLNB 603381 3p14.3
Terminal osseous dysplasia (TOD) 300244 FLNA NM 300017 Xq28
Thanatophoric dysplasia, type I 187600 FGFR3 NM 134934 4p16.3
Thanatophoric dysplasia, type II 187601 FGFR3 NM 134934 4p16.3
Treacher Collins Franceschetti syndrome (+MLPA) 154500
613717
248390
TCOF1
POLR1D
POLR1C
606847
613715
610060
5q32
13q12.2
6p21.1
van der Woude syndrome (+MLPA) 119300 IRF6 607199 1q32.2
Weyers acrofacial dysostosis (+Linkage) 193530 EVC
EVC2
604831
607261
4p16.2
4p16.2

Ectodermal Dysplasias

Ectodermal dysplasia 1, hypohidrotic, X-linked (+MLPA) 305100 EDA 300451 Xq13.1
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant (+MLPA) 129490 EDAR 604095 2q12.2
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (+MLPA) 224900 EDAR 604095 2q12.3
EEC3 syndrome 604292 p63 603273 3q28
Hay-Wells syndrome 106260 p63 603273 3q28
Limb-mammary syndrome 603543 p63 603273 3q28
Rapp-Hodgkin syndrome 129400 p63 603273 3q28

Reproductive Genetics

3-beta-hydroxysteroid dehydrogenase, type II, deficiency 201810 HSD3B2 613890 1p12
Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 202010 CYP11B1 610613 8q24.3
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (+MLPA) 201910 CYP21A2 613815 6p21.33
  300068 AR 313700 Xq12
CBAVD - Congenital bilateral absence of vas deferens (Innolipa) 277180 CFTR (36 Mutationen) 602421 7q31.2
Combined pituitary hormone deficiency 613986 OTX2 HPE
GLI2 HPE
600037
165230
14q22.3
2q14.2
Cytochrom p450 Oxidoreductase Deficiency 613571 POR 124015 7q11.23
Kallmann syndrome 3 (+MLPA) 244200 ROKR2 607123 20p12.3
Kallmann syndrome 4 (+MLPA) 610628 PROK2 607002 3p13
Kallmann syndrome, autosomal-dominant (+MLPA) 147950 FGFR1 136350 8p11.23-p11.22
Kallmann syndrome, X-linked (+MLPA) 308700 KAL1 300836 Xp22.31
Leydig cell hypoplasia 238320 LHCGR 152790 2p16.3
Ovarian dysgenesis 1 233300 FSHR 136435 2p16.3
Ovarian hyperstimulation syndrome, gestational spontaneous 608115 FSHR 136435 2p16.3

Brain malformations and congenital muscular dystrophies

NGS Panel Brain malformations  
HPE Panel (15 HPE-associated genes and 16 genes with overlapping phenotype)HPE pdf
Panel Neuronal migration disorders (107 genes associated with Lissencephaly, Double cortex, Microcephaly, PMG)NM pdf

Double Cortex

Double cortex/subcortical laminar heterotopia(+MLPA) 300067
607432
611603
DCX NM
LIS1 (PAFAH1B1) NM
TUBA1A NM
300121
601545
602529
Xq23
17p13.3
12q13.12
Holoprosencephaly (HPE) 236100      
HPE Panel (15 HPE-associated genes and 16 genes with overlapping phenotype)HPE pdf
HPE2 (+MLPA) 157170 SIX3 HPE, NM 603714 2p21
HPE3 (+MLPA) 142945 SHH HPE, NM 600725 7q36.3
HPE4 (+MLPA) 142946 TGIF HPE, NM 602630 18p11.31
HPE5 (+MLPA) 609637 ZIC2 HPE, NM 603073 13q32.3
HPE7 (+MLPA) 610828 PTCH1 HPE 601309 9q22.32
HPE9 (+MLPA) 610829 GLI2 HPE 165230 2q14.2
Holoprosencephaly/visceral Heterotaxy 270100 NODAL HPE 601265 10q22.1
Lissencephaly 607432      
Panel Neuronal migration disorders (107 genes associated with Lissencephaly, Double cortex, Microcephaly, PMG)NM pdf
Lissencephaly, X-linked (+MLPA) 300067 DCX NM 300121 Xq23
Lissencephaly, X-linked (XLAG) (+MLPA) 300215 ARXHPE, NM 300382 Xp21.3
Lissencephaly, classic, autosomal dominant (LIS1) (+MLPA) 607432 LIS1 (PAFAH1B1) NM 601545 17p13.3
Lissencephaly, autosomal dominant 611603 TUBA1A NM 602529 12q13.12
Microcephaly, primary autosomal recessive 251200      
Panel Neuronal migration disorders (107 genes associated with Lissencephaly, Double cortex, Microcephaly, PMG)NM pdf
Microcephaly, MCPH1 (+MLPA, Linkage) 251200 MCPH1 (Microcephalin) NM 607117 8p23.1
MCPH2 (+Linkage) 604317 WDR62 NM 613583 19q13.12
MCPH3 (only Linkage, NM + MLPA) 604804 CDK5RAP2 NM 608201 9q33.2
MCPH9 (only Linkage + NM) 614852 CEP152 NM 613529 15q21.1
MCPH5 (+MLPA, Linkage) 608716 ASPM NM 605481 1q31.3
MCPH6 (only Linkage, NM + MLPA) 608393 CENPJ NM 609279 13q12.12
MCPH7 (only Linkage, NM + MLPA) 612703 STIL NM 181590 1p33
Polymicrogyria        
Panel Neuronal migration disorders (107 genes associated with Lissencephaly, Double cortex, Microcephaly, PMG)NM pdf
Polymicrogyria, symmetric or asymmetric 610031 TUBB2B NM 612850 6p25.2
Polymicrogyria, bilateral frontoparietal 606854 GPR56 NM 604110 16q21
Polymicrogyria with optic nerve hypoplasia 613180 TUBA8 NM 605742 22q11.21
Rolandic epilepsy, mental retardation and speech dyspraxia 300643 SRPX2 NM 300642 Xq22.1
Periventricular nodular heterotopia (PVNH)        
Panel Neuronal migration disorders (107 genes associated with Lissencephaly, Double cortex, Microcephaly, PMG)NM pdf
PVNH, X-linked (+MLPA) 300049 FLNA NM 300017 Xq28
PVNH, autosomal-recessive with microcephaly (+Linkage) 608097 ARFGEF2 NM 605371 20q13.13
Other brain malformations        
Andermann syndrome (+Linkage) 218000 KCC3 (SLC12A6) 604878 15q14
Cerebellar Hypoplasia with mental retardation and distinctive facial appearance, X-linked 300486 OPHN1 NM 300127 Xq12
Cerebral cavernous malformations (+MLPA) 116860
603284
603285
CCM1 (KRIT1)
CCM2
CCM3 (PDCD10)
604214
607929
609118
7q21.2
7p13
3q26.1
Cortical dysplasia, complex, with other brain malformations 614039 TUBB3 NM 602661 16q24.3
Encephalopathy, acute, infection-induced 3 608033 RANBP2 601181 2q12.3
Epileptic encephalopathy, early infantile, 1 308350 ARX HPE, NM 300382 Xp21.3
Epileptic encephalopathy, early infantile, 1 308350 ARX HPE, NM 300382 Xp21.3
Holoprosencephaly/visceral Heterotaxy 270100
306955
NODAL HPE
ZIC3
601265
300265
10q22.1
Xq26.3
Hydrocephalus, X-linked (+MLPA) 307000 L1CAM HPE 308840 Xq28
Lissencephaly, X-linked (XLAG) (+MLPA) 300215
225790
ARXHPE, NM
FLVCR2 HPE, NM
300382
610865
Xp21.3
14q24.3
Lissencephaly, X-linked (XLAG) (+MLPA) 300215 ARX HPE, NM 300382 Xp21.3
Microphthalmia, syndromal (+MLPA) 610125
206900
OTX2 HPE
SOX2 HPE
600037
184429
14q22.3
3q26.33
Partington syndrome (+MLPA) 309510 ARX HPE, NM 300382 Xp21.3
Proud syndrome (+MLPA) 300004 ARX HPE, NM 300382 Xp21.3
Rett syndrome, congenital variant (+MLPA) 613454 FOXG1 NM 164874 14q12
Schizencephaly (+MLPA) 269160 SIX3 HPE, NM
SHH HPE, NM
EMX2 HPE, NM
603714
600725
600035
2p21
7q36.3
10q26.11
Septooptic dysplasia (+MLPA) 182230 HESX1 HPE 601802 3p14.3
limb-girdle muscular dystrophy 609308      
Panel Neuronal migration disorders (107 genes associated with Lissencephaly, Double cortex, Microcephaly, PMG)NM pdf
Limb-girdle muscular dystrophy LGMD2I (MDDGC5) (+MLPA, Linkage) 607155 FKRP NM 606596 19q13.32
Limb-girdle muscular dystrophy LGMD2K (MDDGC1) (+MLPA, Linkage) 609308 POMT1 NM 607423 9q34.13
Limb-girdle muscular dystrophy LGMD2M (MDDGC4) (+MLPA, Linkage) 611588 FKTN HPE, NM 607440 9q31.2
Limb-girdle muscular dystrophy LGMD2N (MDDGC2) (+MLPA, Linkage) 613158 POMT2 NM 607439 14q24.3
Limb-girdle muscular dystrophy LGMD20 (MDDGC3) (+MLPA, Linkage) 613157 POMGNT1 NM 606822 1p34.1
Limb-girdle muscular dystrophy LGMD2P (MDDGC9) 613818 DAG1 NM 128239 3p21.31
Congenital Muscular dystrophy incl. WWS / MEB 236670      
Panel Neuronal migration disorders (107 genes associated with Lissencephaly, Double cortex, Microcephaly, PMG)NM pdf
POMT1-associated (+MLPA, Linkage) 236670
613155
POMT1 NM 607423 9q34.13
POMT2-associated (+MLPA, Linkage) 613150
613156
POMT2 NM 607439 14q24.3
POMGnT1-associated (+MLPA, Linkage) 253280
613151
POMGNT1 NM 606822 1p34.1
FKRP-associated (+MLPA, Linkage) 613153
606612
FKRP NM 606596 19q13.32
FKTN-associated (incl. 3kb-Founderinsertion) (+MLPA, Linkage) 253800
613152
FKTN HPE, NM 607440 9q31.2
LARGE-associated (+MLPA, Linkage) 613154
608840
LARGE NM 603590 22q12.3
IPSD-associated (+Linkage) 614643 ISPD NM 614631 7p21.2
GTDC2-associated (+Linkage) 614830 GTDC2 NM 614828 3p22.2
TMEM5-associated (+Linkage) 615041 TMEM5 NM 605862 12q14.2
B3GNT1-associated (+Linkage) 615287 B3GNT1 NM 605517 11q13.2
COL4A1-associated (+Linkage) COL4A1 NM 120130 13q34
RELN-associated (only Linkage + NM) 257320 RELN NM 600514 7q22.1

Neurodegenerative disorders

Andermann syndrome (+Linkage) 218000 KCC3 (SLC12A6) 604878 15q14
CADASIL syndrome (+MLPA) 125310 NOTCH3 600276 19p13.12
Brain small vessel disease, COL4A1-associated 607595 COL4A1 NM 120130 13q34
Cerebral cavernous malformations (+MLPA) 116860
603284
603285
CCM1 (KRIT1)
CCM2
CCM3 (PDCD10)
604214607929609118 7q21.2
7p13
3q26.1
Dementia, frontotemporal (+MLPA) 600274 MAPT 157140 17q21.31
Leukoencephalopathy, diffuse hereditary, with spheroids 221820 CSF1R 164770 17q21-q22
Metachromatic Leukencephalopathy 250100 ARSA 607574 22q13.33
Spinal and bulbar muscular atrophy of Kennedy 313200 AR 313700 Xq12
Pick disease (+MLPA) 172700 MAPT 157140 17q21.31
Supranuclear palsy, progressive (+MLPA) 601104 MAPT 157140 17q21.31
Spastic Paraplegia, hereditary (HSP)        
Panel complicated Spastic Paraplegia (37 HSP genes and further 32 clinically overlapping movement disorders)HSP pdf
autosomal-dominant        
Spastic Paraplegia 3 (+MLPA) 182600 ATL1 (Atlastin) HSP 606439 14q22.1
Spastic Paraplegia 4 (+MLPA) 182601 SPAST (Spastin) HSP 604277 2p22.3
Spastic Paraplegia 31 (+MLPA) 610250 SPG31 (REEP1) HSP 609139 2p11.2
autosomal-recessive        
Spastic Paraplegia 5 (+Linkage) 270800 CYP7B1 HSP 603711 8q12.3
Spastic Paraplegia 7 (+MLPA, Linkage) 607259 SPG7 (Paraplegin) HSP 602783 16q24.3
Spastic Paraplegia 11 (+MLPA, Linkage) 604360 SPG11 (Spatacsin) HSP 610844 15q21.1
Spastic Paraplegia 14 (only Linkage) 605229 SPG14 - Lokus 3q27-q28
Spastic Paraplegia 15 (+Linkage) 270700 ZFYVE26 (Spastizin) HSP 612012 14q24.1
Spastic Paraplegia 20 / Troyer syndrome (+Linkage) 275900 SPG20 (Spartin) HSP 607111 13q13.3
Spastic Paraplegia 21 / Mast syndrome (+Linkage) 248900 SPG21 (Maspardin) HSP 608181 15q22.31
Spastic Paraplegia 26 (only Linkage) 609195 SPG26 - Lokus 12p11.1-q14
X-linked        
Spastic Paraplegia 1, X-linked / MASA syndrome (+MLPA) 303350 L1CAM HSP 308840 Xq28

Metabolic disorders

familial intrahepatic Cholestasis        
Cholestasis, benign recurrent intrahepatic (BRIC1, BRIC2) (+Linkage) 243300
605479
ATP8B1
ABCB11
ABCB4
602397
603201
171060
18q21
2q24
7q21.1
Cholestasis, intrahepatic, of pregnancy, 1 (ICP) (+Linkage) 614972
147480
ABCB4
ATP8B1
ABCB11
171060
602397
603201
7q21.1
18q21
Cholestasis, progressive familial intrahepatic 1 (PFIC1, PFIC2, PFIC3) (+Linkage) 211600
601847
602347
ATP8B1
ABCB11
ABCB4
602397
603201
171060
18q21
2q24
7q21.1
Others        
Cystic fibrosis (+MLPA) 134700 G6PD 305900 Xq28
Glucose-6-phosphate dehydrogenase deficiency 304790 FOXP3 300292 Xp11.23
Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX Syndrome) 219700 CFTR (36 Mutationen + Sequenzierung) 602421 7q31.2
Surfactant protein dysfunction/pulmonary alveolar proteinosis, congenital 610921
265120
610913
300770
ABCA3
SFTPB
SFTPC
CSF2RA
601615
178640
178620
306250
16p13.3
2p11.2
8p21.3
Xp22.33
Trimethylaminuria 602079 FMO3 136132 1q24.3

Hereditary Cancer Syndromes (Weber lab, phone: +49-941-944-5424)

Cowden-Syndrome 158350 PTEN 601728 10q23.31
Familial adenomatous polyposis (FAP1), autosomal-dominant 175100 APC 611731 5q22.2
Familial adenomatous polyposis 2 (FAP2), autosomal-recessive 608456 MUTYH 604933 1p34.1
Familial Breast and Ovarian Cancer 114480 ATM
BRCA1
BRCA2
CDH1
CHEK2
NBN
PALB2
RAD51C
RAD51D
TP53
607585
113705
600185
192090
604373
602667
610355
602774
602954
191170
11q22.3
17q21.31
13q13.1
16q22.1
22q12.1
8q21.3
16p12.2
17q22
17q12
17p13.1
Lynparza testing   BRCA1
BRCA2
113705
600185
17q21.31
13q13.1
Hereditary Melanoma 155601 CDKN2A 600160 9p21.3
Hereditary Non-Polyposis Colorectal Cancer (HNPCC) 120435 MLH1
MSH2
MSH6
PMS2
120436
609309
600678
600259
3p22.2
2p21
2p16.3
7p22.1
Li-Fraumeni Syndrome 151623 TP53 191170 17p13.1
Peutz-Jeghers Syndrome (currently being established) 175200 STK11 602216 19p13.3
Von-Hippel-Lindau Syndrome 193300 VHL 608537 3p25.3

Retinal Disorders (Weber lab, phone: +49-941-944-5424)

Macular dystrophies        
Adult vitelliform macular dystrophy (AVMD) 608161 BEST1
PRPH2
607854
179605
11q12.3
6p21.1
Bestrophinopathy 611809 BEST1 607854 11q12.3
Doyne honeycomb retinal dystrophy/Familial drusen 126600 EFEMP1 601548 2p16.1
Fundus albipunctatus 136880 RDH5 601691 12q13.2
Macluar dystrophy with hypotrichosis 601553 CDH3 114021 16q22.1
Genepanel retina degeneration   17 Genes    
Best disease 153700 BEST1 607854 11q12.3
Stargardt disease 248200 ABCA4 601691 11p22.1
Pattern dystrophy 169150 PRPH2 179605 6p21.1
Sorsby fundus dystrophy 136900 TIMP3 188826 22q12.3
vitreoretinochoroidopathy (ADVIRC) 193220 BEST1 607854 11q12.3
Choroidal Dystrophy, central areolar 613105
PRPH2
GUCY2D
179605
600179
6p21.1
17p13.1
Vitelliform Maculadystrophy, autosomal-dominant und
autosomal-recessive
  IMPG1 602870 6q14.1
Generalized retinal dystrophy with macular or periphery onset        
Atrophia gyrata 258870 OAT 613349 10q26.13
Choroideremia 303100 CHM 300390 Xq21.2
Gene panel Leber congenital amaurosis   25 genes    
Retinitis pigmentosa, autosomal-dominant 615922
600138
608133
613731
180100
PRPF4
PRPF31
PRPH2
RHO
RP1
607795
606419
179605
180380
603937
9q32
19q13.42
6p21.1
3q22.1
8q12.1
Retinitis pigmentosa, X-chromosomal 312600
300029
RP2
RPGR incl. ORF 15
300757
312610
Xp11.23
Xp11.4
Gene panel Retinitis pigmentosa   78 genes    
Enhanced S-cone syndrome 610356 KCNV2 607604 9p24.2
Cone rod dystrophy 604116 ABCA4 601691 11p22.1
Gene panel cone dystrophy/cone-rod dystrophy   35 genes    
Other retinal diseases        
achromatopsia 216900
262300
613856
613093
CNGA3
CNGB3
GNAT2
PDE6C
600053
600053
139340
600827
2q11.2
8q21.3
1p13.3
10q23.33
Biettis crystalline dystrophy 210370 CYP4V2 608614 4q35.2
Familial exsudative vitreoretinopathy 133780
601813
305390
613310
FZD4
LRP5
NDP
TSPAN12
ZNF408
604579
603506
300658
613138
11q14.2
11q13.2
Xp11.3
7q31.3
119q13.41
Congenital stationary night blindness 610444
163500
610445
310500
GNAT1
PDE6B
RHO
NYX
139330
180072
180380
300278
3p21.3
14p16.3
3q22.1
Xp11.4
Norrie Syndrome 310600 NDP 300658 Xp11.3
Opticus atrophy 165500 OPA1 605290 3q29
Retinoschisis 312700 RS1 300839 Xp22.13
Usher Syndrome Typ IIA 276901 USH2A 608400 1q41

Other diseases (Weber lab, phone: +49-941-944-5424)

Ataxia-Telangiectasia 208900 ATM 607585 11q22.3
Deafness 220290 GJB2
GJB6
121011
604418
13q12.11
Familial amyloidosis 105210 TTR 176300 18q12.1
Primary failure of tooth eruption 125350 PTH1R 168468 3p21.31
Xeroderma Pigmentosum 278700
278720
278750
278730
XPA
XPC
POLH
ERCC2
611153
613208
603968
126340
9q22.33
3p25.1
6p21.1
19q13.32