Mentale Retardierung - verschiedene Panels
Mental Retardation - different panels
Kategorie:
Importiert aus Diagnosen
Kilobasen des Panels:
keine Angaben
Beschreibung:
Schlagworte:
- Coffin-Siris Syndrom
- Cornelia-de-Lange Syndrom
- Epileptische Encephalopathie
- Dystroglykanopathien
- Primäre Mikrozephalie
- Seckel-Syndrom
- Gesamt-Panel Mentale Retardierung / MR - Gene der SysID-Database (Kochinke et al. 2016)
Gen locations (866)
AADC / DDC
AMT / AMT (GCST)
AN2 / PAX6
APT13A2 / ATP13A2
ARL6 / BBS3
B3GALTL / B3GLCT
BBS15 / WDPCP
BBS6 / MKKS
BBS8 / TTC8
BBS9 / PTHB1
BLM / RECQL3
C120rf65 / C12orf65
CIAS1 / NLRP3
CLN2 / TPP1
COH1 (VPS13B) / VPS13B
CXORF5 / OFD1
DUX4 / DYNC1H1
EZH2 / EZHE2
FAM126A / HYCCIN-FAM126A
FCMD / FKTN
FH / Fumarate hydratase
GABR3 / GABRB3
GJA12 / GJC2
GNAS / GNAS1
GPR56 / GPR56 gene
GRN / PGRN
GTDC2 / POMGNT2
KIAA0196 / WASHC5
KIAA1840 / SPG11
KMT2D / MLL2
LARGE / LARGE gene
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
NLGN4 / NLGN4X
PCNT / PCNT2
PNKP / PNPK
POMGNT1 / POMGTN1
POMT1 / POMT1 gene
PTCH / PTCH1
SDH2 / SDHA
SMC1A / SMC1L1
TGIF / TGIF1
TUBG / TUBG1
ZEB2 / ZFHX1B