Gen-Panel
Retinitis pigmentosa (RP), umfassende Diagnostik: ID288.02, 87 Gene
ABCA4,
AGBL5,
AHR,
AIPL1,
ARHGEF18,
ARL2BP,
ARL3,
ARL6,
BBS2,
BEST1,
CC2D2A,
CDHR1,
CERKL,
CFAP418,
CHM,
CLCC1,
CLRN1,
CNGA1,
CNGB1,
CRB1,
CRX,
DHDDS,
DHX38,
EYS,
FAM161A,
FLVCR1,
FSCN2,
GUCA1B,
HGSNAT,
HK1,
HKDC1,
IDH3A,
IDH3B,
IFT43,
IFT140,
IFT172,
IMPDH1,
IMPG1,
IMPG2,
KIAA1549,
KIF3B,
KIZ,
KLHL7,
LRAT,
MAK,
MERTK,
NEK2,
NR2E3,
NRL,
OFD1,
PCARE,
PDE6A,
PDE6B,
PDE6G,
POMGNT1,
PRCD,
PROM1,
PRPF3,
PRPF4,
PRPF6,
PRPF8,
PRPF31,
PRPH2,
RAX2,
RBP3,
RDH12,
REEP6,
RGR,
RHO,
ROM1,
RP1,
RP1L1,
RP2,
RP9,
RPE65,
RPGR,
SAG,
SEMA4A,
SLC7A14,
SNRNP200,
SPATA7,
TOPORS,
TTC8,
TULP1,
USH2A,
ZNF408,
ZNF513
Inkludierte Phänotypen
Retinitis pigmentosa (RP), autosomal-dominant: 28 Gene
AIPL1,
ARL3,
BEST1,
FSCN2,
GUCA1B,
HK1,
IMPDH1,
IMPG1,
KIF3B,
KLHL7,
NR2E3,
NRL,
PRPF3,
PRPF4,
PRPF6,
PRPF8,
PRPF31,
PRPH2,
RDH12,
RGR,
RHO,
RP1,
RP9,
RPE65,
SAG,
SEMA4A,
SNRNP200,
TOPORS
Retinitis pigmentosa (RP), autosomal-rezessiv: 61 Gene
ABCA4,
AGBL5,
AHR,
ARHGEF18,
ARL2BP,
ARL6,
BBS2,
CC2D2A,
CDHR1,
CERKL,
CFAP418,
CLCC1,
CLRN1,
CNGA1,
CNGB1,
CRB1,
DHDDS,
DHX38,
EYS,
FAM161A,
HGSNAT,
HKDC1,
IDH3A,
IDH3B,
IFT43,
IFT140,
IFT172,
IMPG2,
KIAA1549,
KIZ,
LRAT,
MAK,
MERTK,
NEK2,
NR2E3,
PCARE,
PDE6A,
PDE6B,
PDE6G,
POMGNT1,
PRCD,
PROM1,
PRPH2,
RAX2,
RBP3,
RDH12,
REEP6,
RGR,
RHO,
RP1,
RP1L1,
RPE65,
SAG,
SEMA4A,
SLC7A14,
SPATA7,
TTC8,
TULP1,
USH2A,
ZNF408,
ZNF513
Retinitis pigmentosa (RP), X-chromosomal: 4 Gene
CHM,
OFD1,
RP2,
RPGR
HPO Terms
Night blindness, Nyctalopia, Progressive visual loss, Peripheral visual field loss, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Retinal pigmentary changes, Abnormal electroretinogram, Reduced rod response, Reduced visual acuity, Optic atrophy, Macular degeneration, Nystagmus, Fundus atrophy, Retinitis pigmentosa inversa, Retinal dystrophy, Visual field defect, Photopsia, Retinal pigmentary atrophy
