Skip to main content

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.