Gene

CELSR1

Pathology

Primary lymphedema.

SANGER

Gene

FLT4

Pathology

Primary lymphedema.

SANGER

Gene

FOXC2

Pathology

Lymphedema-distichiasis syndrome; Primary lymphedema.

SANGER

Gene

ABCC6

Pathology

Congenital vascular malformations; Juvenile hemorrhagic stroke.

SANGER

Gene

COL3A1

Pathology

Congenital vascular malformations; Juvenile hemorrhagic stroke.

SANGER

Gene

TEK

Pathology

Congenital vascular malformations.

SANGER

Gene

ABCA4

Pathology

Retinitis pigmentosa AD, AR, sporadic; Stargardt macular dystrophy; Cone dystrophy AD, AR, X-linked, sporadic; Macular dystrophy.

SANGER

Gene

BEST1

Pathology

Best disease; Vitelliform macular dystrophy; Retinitis pigmentosa AD, AR, sporadic; Macular dystrophy.

SANGER

Gene

CHM

Pathology

Choroideremia.

SANGER

Gene

CRX

Pathology

Cone dystrophy AD, AR, X-linked, sporadic; Retinitis pigmentosa AD, AR, sporadic; Leber congenital amaurosis; Macular dystrophy.

SANGER

Gene

MERTK

Pathology

Retinitis pigmentosa AD, AR, sporadic.

SANGER

Gene

MYO7A

Pathology

Usher syndrome.

SANGER

Gene

NR2E3

Pathology

Retinitis pigmentosa AD, AR, sporadic; Enhanced S-cone syndrome.

SANGER

Gene

OAT

Pathology

Gyrate atrophy of choroid and retina.

SANGER

Gene

PROM1

Pathology

Stargardt macular dystrophy; Cone dystrophy AD, AR, X-linked, sporadic; Retinitis pigmentosa AD, AR, sporadic; Macular dystrophy.

SANGER

Gene

PRPH2

Pathology

Retinitis pigmentosa AD, AR, sporadic; Vitelliform macular dystrophy; Retinitis punctata albescens; Macular dystrophy.

SANGER

Gene

RHO

Pathology

Retinitis pigmentosa AD, AR, sporadic; Retinitis punctata albescens.

SANGER

Gene

RP1

Pathology

Retinitis pigmentosa AD, AR, sporadic.

SANGER

Gene

RP2

Pathology

Retinitis pigmentosa AD, AR, sporadic; Retinitis pigmentosa X-linked.

SANGER

Gene

RPGR

Pathology

Retinitis pigmentosa AD, AR, sporadic; Retinitis pigmentosa X-linked; Cone dystrophy AD, AR, X-linked, sporadic; Macular dystrophy.

SANGER