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
RS111448395 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 2, Leber congenital amaurosis 7, Retinitis pigmentosa
RS1209634994 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 2, Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS139340178 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 2, Leber congenital amaurosis 7, Retinitis pigmentosa
RS139340702 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 7, Cone-rod dystrophy 2, Retinitis pigmentosa
RS141564522 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 7, Cone-rod dystrophy 2, Retinitis pigmentosa
RS145805694 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS145913500 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS146240568 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS146417527 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 7, Cone-rod dystrophy 2, Retinitis pigmentosa
RS149039830 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 2, Leber congenital amaurosis 7, Retinitis pigmentosa
RS151169551 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS181823708 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS189556251 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS371964860 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS375770558 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS527236063 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy, Cone-rod dystrophy 2
RS543729483 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 7, Cone-rod dystrophy 2, Retinitis pigmentosa
RS544037698 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS550939154 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 7, Cone-rod dystrophy 2, Retinitis pigmentosa
RS557773336 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 2, Leber congenital amaurosis 7, Retinitis pigmentosa
RS560185740 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 2, Leber congenital amaurosis 7, Retinitis pigmentosa
RS574641672 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 2, Leber congenital amaurosis 7, Retinitis pigmentosa
RS61748442 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS61748451 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS61748455 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 2, Leber congenital amaurosis 7, Retinitis pigmentosa
RS727503894 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 2, Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS752458888 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 7, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS755554804 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 7, Cone-rod dystrophy 2, Inborn genetic diseases
RS758125850 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 7, Cone-rod dystrophy 2, Retinal dystrophy
RS760741667 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 7, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS761290111 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 2, Leber congenital amaurosis 7, Inborn genetic diseases
RS763651232 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 2, Retinitis pigmentosa, Leber congenital amaurosis 7
RS786205521 Health Risk Conflicting classifications of pathogenicity Autosomal dominant retinitis pigmentosa, Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS863224863 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 7, Retinal dystrophy, Cone-rod dystrophy 2
RS886054546 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 2, Leber congenital amaurosis 7, Retinitis pigmentosa
RS1064797247 Health Risk Likely pathogenic Retinal dystrophy, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS1437021651 Health Risk Likely pathogenic Cone-rod dystrophy, Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS1481802456 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1555801777 Health Risk Likely pathogenic —
RS1555801963 Health Risk Likely pathogenic Macular dystrophy, Macular dystrophy
RS1555801989 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1555802058 Health Risk Likely pathogenic —
RS1568626289 Health Risk Likely pathogenic Leber congenital amaurosis 7, Leber congenital amaurosis 7
RS1599991538 Health Risk Likely pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS1599992622 Health Risk Likely pathogenic Stargardt disease, Stargardt disease
RS1599992745 Health Risk Likely pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS1968165080 Health Risk Likely pathogenic Retinal dystrophy, Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS1968170098 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2123743110 Health Risk Likely pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS2123743219 Health Risk Likely pathogenic Cone-rod dystrophy 2, Cone-rod dystrophy 2
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