CRX Chromosome 19

Cone-rod homeobox
146 variants 146 Health Risk

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What This Gene Does
The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in this gene are associated with photoreceptor degeneration, Leber congenital amaurosis type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
PRD class homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
19q13.33
Ensembl
ENSG00000105392
Associated Conditions (15)
Cone-rod dystrophy 2
Leber congenital amaurosis 7
Retinitis pigmentosa
Retinal dystrophy
CRX-related disorder
Inborn genetic diseases
Leber congenital amaurosis 1
Autosomal dominant retinitis pigmentosa
Cone-rod dystrophy
Macular dystrophy
Stargardt disease
Leber congenital amaurosis
See cases
maculopathy
Benign concentric annular macular dystrophy
Key Variants
RS111448395
Conflicting classifications of pathogenicity
Cone-rod dystrophy 2, Leber congenital amaurosis 7, Retinitis pigmentosa
Health Risk
RS1209634994
Conflicting classifications of pathogenicity
Cone-rod dystrophy 2, Leber congenital amaurosis 7, Cone-rod dystrophy 2
Health Risk
RS139340178
Conflicting classifications of pathogenicity
Cone-rod dystrophy 2, Leber congenital amaurosis 7, Retinitis pigmentosa
Health Risk
RS139340702
Conflicting classifications of pathogenicity
Leber congenital amaurosis 7, Cone-rod dystrophy 2, Retinitis pigmentosa
Health Risk
RS141564522
Conflicting classifications of pathogenicity
Leber congenital amaurosis 7, Cone-rod dystrophy 2, Retinitis pigmentosa
Health Risk
RS145805694
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Leber congenital amaurosis 7, Cone-rod dystrophy 2
Health Risk
RS145913500
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Cone-rod dystrophy 2, Leber congenital amaurosis 7
Health Risk
RS146240568
Conflicting classifications of pathogenicity
Inborn genetic diseases, Leber congenital amaurosis 7, Cone-rod dystrophy 2
Health Risk
RS146417527
Conflicting classifications of pathogenicity
Leber congenital amaurosis 7, Cone-rod dystrophy 2, Retinitis pigmentosa
Health Risk
RS149039830
Conflicting classifications of pathogenicity
Cone-rod dystrophy 2, Leber congenital amaurosis 7, Retinitis pigmentosa
Health Risk
RS151169551
Conflicting classifications of pathogenicity
Retinal dystrophy, Cone-rod dystrophy 2, Leber congenital amaurosis 7
Health Risk
RS181823708
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Cone-rod dystrophy 2, Leber congenital amaurosis 7
Health Risk
All Variants (146)
RSID Category Clinical Significance Conditions
RS2123743692 Health Risk Pathogenic Cone-rod dystrophy 2, Retinal dystrophy, Cone-rod dystrophy 2
RS2514252125 Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS2514252240 Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS2514256097 Health Risk Pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS2514256113 Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS2514256211 Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS2514256232 Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS2514256246 Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS2514256327 Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS2514256563 Health Risk Pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS2514256605 Health Risk Pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS281865198 Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS281865515 Health Risk Pathogenic Leber congenital amaurosis 7, Leber congenital amaurosis 7
RS281865516 Health Risk Pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7, Retinal dystrophy
RS281865517 Health Risk Pathogenic Leber congenital amaurosis 7, Leber congenital amaurosis 7
RS373497612 Health Risk Pathogenic Leber congenital amaurosis 7, Leber congenital amaurosis 7
RS61748444 Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS61748446 Health Risk Pathogenic Leber congenital amaurosis 7, Leber congenital amaurosis 7
RS61748449 Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS61748452 Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS61749660 Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS62654391 Health Risk Pathogenic maculopathy, Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS764877352 Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, Retinitis pigmentosa
RS864309707 Health Risk Pathogenic Benign concentric annular macular dystrophy, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS864309708 Health Risk Pathogenic Benign concentric annular macular dystrophy, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS878853383 Health Risk Pathogenic Retinal dystrophy, Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS886044121 Health Risk Pathogenic —
RS1001151383 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, Retinitis pigmentosa
RS104894672 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 2, Retinal dystrophy, Leber congenital amaurosis 7
RS104894673 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 7, Retinal dystrophy, Cone-rod dystrophy 2
RS1064796109 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS1064797246 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS1599991611 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS1968115710 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7, Retinal dystrophy
RS1968165008 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS1968169004 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS1968173024 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS2514256545 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, Retinitis pigmentosa
RS61748436 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7, Retinal dystrophy
RS749738655 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7, Retinal dystrophy
RS751018117 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS771450991 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS771551785 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy, Leber congenital amaurosis 7
RS771736389 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS775073228 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7, Retinal dystrophy
RS864309706 Health Risk Pathogenic/Likely pathogenic Benign concentric annular macular dystrophy, Cone-rod dystrophy 2, Leber congenital amaurosis 7
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