Panel

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)

Genorte (866)

AADC / DDC
KMT2A / ALL1/MLL / MLL
AMT / AMT (GCST)
AN2 / PAX6
APT13A2 / ATP13A2
ARL6 / BBS3
ATP6 / MT-ATP6 / MTATP6
B3GALTL / B3GLCT
BBS15 / WDPCP
BBS6 / MKKS
BBS8 / TTC8
BBS9 / PTHB1
BLM / RECQL3
C120rf65 / C12orf65
CIAS1 / NLRP3
CLN2 / TPP1
COH1 (VPS13B) / VPS13B
COX1 / MT-CO1 / MTCO1
COX3 / MT-CO3 / MTCO3
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-TS1 / MTTS1 / t-RNA-Ser
MT-TV / MTTV
NBN / NBN (NBS1) / NBS1
NLGN4 / NLGN4X
PCNT / PCNT2
PNKP / PNPK
POMGNT1 / POMGTN1
POMT1 / POMT1 gene
PTCH / PTCH1
SDH2 / SDHA
SMC1A / SMC1L1
TGIF / TGIF1
TUBG / TUBG1
ZEB2 / ZFHX1B