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Table 2 List of genes included in the capture IRD panel

From: Novel RP1 mutations and a recurrent BBS1variant explain the co-existence of two distinct retinal phenotypes in the same pedigree

Gene Chr location NCBI reference sequence Exons Pathology
ABCA4 1:94458391-94586688 NM_000350.2 50 ADRP, ARRP, ARCRD, ARMD, STGD
CDH23 10:73156691-73575702 NM_022124.5 69 USH, Deafness alone or syndromic
CERKL 2:182401403-182545392 NM_201548.4 14 ARRP, ARCRD
CNGA1 4:47937994-48018689 NM_001142564.1 10 ARRP
CRB1 1:197170592-197447585 NM_201253.2 12 ARRP, ARLCA
EYS 6:64429876-66417118 NM_001142800.1 43 ARRP
FSCN2 17:79495422-79504156 NM_012418.3 5 ADRP, ADMD
MERTK 2:112656056-112787138 NM_006343.2 19 ARRP
MYO7A 11:76839310-76926284 NM_000260.3 49 USH, Deafness alone or syndromic
NR2E3 15:72084977-72110559 NM_016346.3 8 ADRP, ARRP, ARESCS
PDE6B 4:619373-664571 NM_000283.3 22 ARRP, ADCSNB
PROM1 4:15964699-16086001 NM_006017.2 28 ARRP, ADCRD, ADMD
PRPF3 1:150293925-150325671 NM_004698.2 16 ADRP
PRPF31 19:54618837-54635140 NM_015629.3 14 ADRP
PRPH2 6:42664340-42690312 NM_000322.4 3 ADRP, ADMD, ADCRD and digenic
RDH12 14:68168603-68201169 NM_152443.2 9 ADRP, ARLCA
RHO 3:129247483-129254012 NM_000539.3 5 ADRP, ARRP, ADCSNB
RLBP1 15:89753098-89764922 NM_000326.4 9 ARRP
RP1 8:55471729-55682531 NM_006269.1 4 ADRP, ARRP
RP2 X:46696375-46741793 NM_006915.2 5 XLRP
RPE65 1:68894505-68915642 NM_000329.2 14 ARRP, ARLCA
RPGR X:38128424-38186817 NM_001034853.1 19 XLRP, XLCRD, XLMD
SAG 2:234216309-234255701 NM_000541.4 16 ARRP, ARCSNB
TULP1 6:35465651-35480715 NM_003322.4 15 ARRP, ARLCA
USH1G 17:72912176-72919351 NM_173477.4 3 USH
USH2A 1:215796236-216596738 NM_206933.2 73 ARRP, USH
  1. RP: Retinitis pigmentosa; AD: Autosomal dominant; AR: Autosomal recessive; XL: X-linked; LCA: Leber congenital amaurosis; CRD: Cone or cone-rod dystrophy; MD: Macular degeneration; CSNB: Congenital stationary night blindness; USH: Usher syndrome; STGD: Stargardt disease; ESCS: Enhanced S-cone syndrome.