Geistige Behinderung / Inteligenzminderung
Intellectual disability / mental retardation
Kategorie:
Multi Gen Panel
Kilobasen des Panels:
0,25
Beschreibung:
NGS-Panel
#018: Coffin-Siris-Syndrom (22,1 kb)
#019: Cornelia-de-Lange-Syndrom (18,8 kb)
#270: Poretti-Holzhauser-Syndrom (9,2 kb)
#022: Dystroglykanopathien (22,9 kb)
~2500 Konsensus-Gene für Intelligenzminderung nach Erger et al. 2019, Priorisierung mittels HPO-terms
Auf Anfrage ist eine individuelle Auswahl aus u.g. Genen des Panels problemlos möglich
Schlagworte:
- Nicolaides-Baraitser-Syndrom
- Kabuki-Syndrom
- Primäre Mikrozephalie
- Seckel-Syndrom
- Primordialer Kleinwuchs mit Mikrozephalie
- Mikrocephalie/ Kleinwuchs-Syndrome
- Epileptische Encephalopathie
- Autismus
- Treacher-Collins-Syndrom
- Syndromale Enzephalopathie
- Mental retardation
- Nicolaides-Baraitser syndrome
- Kabuki syndrome
- primary microcephaly
- Seckel syndrome
- primordial dwarfism with microcephaly
- microcephaly/ dwarfism syndromes
- epileptic encephalopathy
- autism
- Treacher-Collins syndrome
Genorte (2072)
AADC / DDC
ACADVL / VLCAD
ACTA1 / ACTA1A
ADA2 / CECR1
ALS2 / ALSIN
AMT / AMT (GCST)
AN2 / PAX6
ANT1 / SLC25A4
APT13A2 / ATP13A2
ARL6 / BBS3
ASS / ASS1
ATL1 / SPG3A
ATXN7 / SCA7
B3GALTL / B3GLCT
B3GnT1 / B4GAT1
BBS15 / WDPCP
BBS6 / MKKS
BBS8 / TTC8
BBS9 / PTHB1
BLM / RECQL3
BRCA1 / BRCA1
BRCA2 / BRCA2
C120rf65 / C12orf65
CACNA1A / CACNA1A-SCA6
CAVIN1 / PTRF
CIAS1 / NLRP3
CLN2 / TPP1
COH1 (VPS13B) / VPS13B
GJB2 / CX26
GJB6 / CX30
CXORF5 / OFD1
DHOD1 / DHODH
DTDST / SLC26A2 / SLC26A2
DUX4 / DYNC1H1
ECEL1 / EGR2
ECGF1 / TYMP
ED1 / EDA
Elastin / ELN
EZH2 / EZHE2
FAM126A / HYCCIN-FAM126A
FCMD / FKTN
FH / Fumarate hydratase
FRDA / FXN
GABR3 / GABRB3
GALK / GALK1
GDAP1 / GDAPI
GFM1 / GFM1 EFG1
GJA12 / GJC2
GNAS / GNAS1
GPR56 / GPR56 gene
GRN / PGRN
GTDC2 / POMGNT2
HLXB9 / MNX1
HNF1A / TCF1
HPRP3 / PRPF3
INVS / NPHP2
IPF1 / PDX1
KIAA0196 / WASHC5
KIAA1840 / SPG11
KIAA1985 / SH3TC2
KMT2D / MLL2
LARGE / LARGE gene
LDB3 / ZASP (LDB3)
LEPRE1 / P3H1
LIS 1 / PAFAH1B1
MADH4 / SMAD4
MAP2K1 / MEK1
MAP2K2 / MEK2
MEM67/MKS3 / TMEM67
MPLKIP / TTDN1
MT-CO2 / MTCO2
MT-ND5 / MTND5
MT-TK / MTTK
MT-TL1 / MTTL1
MT-TV / MTTV
NGF / NGFB
NKX2-5 / NKX2E
NLGN4 / NLGN4X
OX9 / SOX9
PCNT / PCNT2
PGN / SPG7
PIT1 / POU1F1
PLEC / PLEC1
PLPA6 / PNPLA6
PMP22 / PMP22-dup
PNKP / PNPK
POMGNT1 / POMGTN1
POMT1 / POMT1 gene
PRNP / PRPN
PRPH2 / RDS
PTCH / PTCH1
PTH1R / PTHR1
SDH2 / SDHA
SDH5 / SDHAF2
SMC1A / SMC1L1
SP7 / SP7/OSX
SPAST / SPG4
TGIF / TGIF1
TP63 / TP73L
TUBG / TUBG1
TUPLE 1 / TUPLE1
ZEB2 / ZFHX1B