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
RS2514255981 Health Risk Likely pathogenic —
RS2514256689 Health Risk Likely pathogenic CRX-related disorder, CRX-related disorder
RS527236062 Health Risk Likely pathogenic Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa
RS61748437 Health Risk Likely pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS62636512 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS767273026 Health Risk Likely pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS786205630 Health Risk Likely pathogenic Leber congenital amaurosis 7, Autosomal dominant retinitis pigmentosa, Leber congenital amaurosis 7
RS869312175 Health Risk Likely pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS104894671 Health Risk Pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7, Retinal dystrophy
RS1568626209 Health Risk Pathogenic Cone-rod dystrophy 2, Cone-rod dystrophy 2
RS1599991268 Health Risk Pathogenic Stargardt disease, Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS1968116898 Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS1968117526 Health Risk Pathogenic Leber congenital amaurosis 7, Leber congenital amaurosis 7
RS1968160841 Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS1968162133 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1968162287 Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS1968163226 Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS1968164438 Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS1968164899 Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS1968165217 Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS1968165374 Health Risk Pathogenic Leber congenital amaurosis, Leber congenital amaurosis
RS1968165665 Health Risk Pathogenic Leber congenital amaurosis 7, Leber congenital amaurosis 7
RS1968165787 Health Risk Pathogenic Leber congenital amaurosis 7, Leber congenital amaurosis 7
RS1968166379 Health Risk Pathogenic Leber congenital amaurosis 7, Leber congenital amaurosis 7
RS1968166700 Health Risk Pathogenic —
RS1968166909 Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS1968167093 Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, See cases
RS1968167254 Health Risk Pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS1968167603 Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS1968168564 Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, Cone-rod dystrophy 2
RS1968169100 Health Risk Pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7, Stargardt disease
RS1968169272 Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS1968169319 Health Risk Pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7, Retinal dystrophy
RS1968172289 Health Risk Pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS1968173864 Health Risk Pathogenic Leber congenital amaurosis 7, Leber congenital amaurosis 7
RS2123738324 Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS2123739840 Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS2123739871 Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS2123739943 Health Risk Pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS2123742895 Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS2123743155 Health Risk Pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS2123743175 Health Risk Pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS2123743184 Health Risk Pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS2123743198 Health Risk Pathogenic Leber congenital amaurosis 7, Leber congenital amaurosis 7
RS2123743235 Health Risk Pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS2123743284 Health Risk Pathogenic Leber congenital amaurosis 7, Leber congenital amaurosis 7
RS2123743320 Health Risk Pathogenic Cone-rod dystrophy 2, Cone-rod dystrophy 2
RS2123743359 Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS2123743395 Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS2123743577 Health Risk Pathogenic Leber congenital amaurosis 7, Cone-rod dystrophy 2, Leber congenital amaurosis 7
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