List of diseases covered by Leber Congenital Amaurosis NGS panel
Gene | Condition |
AIPL1 | Leber congenital amaurosis 4 |
CABP4 | Cone-rod synaptic disorder, congenital nonprogressive |
CEP290 | Leber congenital amaurosis 10; Bardet-Biedl syndrome 14 |
CRB1 | Leber congenital amaurosis 8; Pigmented paravenous chorioretinal atrophy; Retinitis pigmentosa-12, autosomal recessive |
CRX | Leber congenital amaurosis 7; Cone-rod retinal dystrophy-2 |
GDF6 | Leber congenital amaurosis 17; Microphthalmia with coloboma 6, digenic; Microphthalmia, isolated 4 |
GUCY2D | Leber congenital amaurosis 1; Cone-rod dystrophy 6; Central areolar choroidal dystrophy 1 |
IMPDH1 | Leber congenital amaurosis 11; Retinitis pigmentosa 10 |
IQCB1 | Senior-Loken syndrome 5 |
KCNJ13 | Leber congenital amaurosis 16; Snowflake vitreoretinal degeneration |
LCA5 | Leber congenital amaurosis 5 |
LRAT | Leber congenital amaurosis 14 |
NMNAT1 | Leber congenital amaurosis 9 |
OTX2 | Retinal dystrophy, early-onset, with or without pituitary dysfunction; Microphthalmia, syndromic 5 |
RD3 | Leber congenital amaurosis 12 |
RDH12 | Leber congenital amaurosis 13 |
RPE65 | Leber congenital amaurosis 2; Retinitis pigmentosa 20 |
RPGRIP1 | Leber congenital amaurosis 6; Cone-rod dystrophy 13 |
SPATA7 | Leber congenital amaurosis 3 |
TULP1 | Leber congenital amaurosis 15; Retinitis pigmentosa 14 |