CERKL Chromosome 2

CERK like autophagy regulator
200 variants 200 Health Risk

Upload your DNA to see your personal genotypes for variants in CERKL.

What This Gene Does
This gene was initially identified as a locus (RP26) associated with an autosomal recessive form of retinitis pigmentosa (arRP) disease. This gene encodes a protein with ceramide kinase-like domains, however, the protein does not phosphorylate ceramide and its target substrate is currently unknown. This protein may be a negative regulator of apoptosis in photoreceptor cells. Mutations in this gene cause a form of retinitis pigmentosa characterized by autosomal recessive cone and rod dystrophy (arCRD). Alternative splicing of this gene results in multiple transcript variants encoding different isoforms and non-coding transcripts.[provided by RefSeq, May 2010]
Associated Conditions (21)
Isolated macular dystrophy
Retinal dystrophy
Retinitis pigmentosa 26
Cone-rod dystrophy
Inborn genetic diseases
Retinitis pigmentosa
Malignant tumor of esophagus
Ovarian serous cystadenocarcinoma
CERKL-related disorder
Acute myeloid leukemia
Chronic lymphocytic leukemia/small lymphocytic lymphoma
Stargardt disease
Autosomal recessive retinitis pigmentosa
Severe photosensitivity
Macular dystrophy
Adult-onset night blindness
Cone dystrophy
Retinal pigment epithelial atrophy
See cases
CERKL-related retinopathy
+1 more conditions
Key Variants
RS1064797278
Conflicting classifications of pathogenicity
Isolated macular dystrophy, Retinal dystrophy, Retinitis pigmentosa 26
Health Risk
RS1201433512
Conflicting classifications of pathogenicity
Cone-rod dystrophy, Retinal dystrophy, Cone-rod dystrophy
Health Risk
RS1343928865
Conflicting classifications of pathogenicity
Retinitis pigmentosa 26, Inborn genetic diseases, Retinitis pigmentosa 26
Health Risk
RS1344137236
Conflicting classifications of pathogenicity
Retinitis pigmentosa 26, Retinal dystrophy, Retinitis pigmentosa 26
Health Risk
RS139300604
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinitis pigmentosa 26, Retinal dystrophy
Health Risk
RS140898616
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa 26, Malignant tumor of esophagus
Health Risk
RS141389059
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa 26, CERKL-related disorder
Health Risk
RS141656965
Conflicting classifications of pathogenicity
Retinitis pigmentosa, CERKL-related disorder, Retinitis pigmentosa
Health Risk
RS145489428
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa 26, Inborn genetic diseases
Health Risk
RS146279858
Conflicting classifications of pathogenicity
Retinitis pigmentosa 26, Inborn genetic diseases, Retinitis pigmentosa 26
Health Risk
RS146913105
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinal dystrophy, Inborn genetic diseases
Health Risk
RS1481841151
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
All Variants (200)
RSID Category Clinical Significance Conditions
RS2468583768 Health Risk Pathogenic —
RS398122963 Health Risk Pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa, Retinitis pigmentosa 26
RS398122964 Health Risk Pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa, Retinitis pigmentosa 26
RS746595127 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS748394238 Health Risk Pathogenic Retinitis pigmentosa 26, Retinal dystrophy, Retinitis pigmentosa 26
RS748876465 Health Risk Pathogenic —
RS750151209 Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 26, Retinal dystrophy
RS751149105 Health Risk Pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa, Retinitis pigmentosa 26
RS754353693 Health Risk Pathogenic —
RS755238456 Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 26, Autosomal recessive retinitis pigmentosa
RS758116997 Health Risk Pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS772395938 Health Risk Pathogenic —
RS772748858 Health Risk Pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS776727320 Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 26, Retinal dystrophy
RS928004913 Health Risk Pathogenic —
RS1003615909 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa, Retinitis pigmentosa 26
RS1005130980 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 26, Retinal dystrophy
RS1187839124 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinal dystrophy, Retinitis pigmentosa 26
RS121909398 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa, Retinal dystrophy
RS1241374922 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS1255407239 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS1305408254 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS1328971667 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS1414280804 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS1457373962 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS1472885040 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa, Retinitis pigmentosa 26
RS1476585944 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS1553513437 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 26
RS1559100465 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS1685567937 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS1688308445 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS1688653833 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinal dystrophy, Retinitis pigmentosa 26
RS1689010156 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 26, Retinal dystrophy
RS1689011389 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS200711686 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 26, Retinal dystrophy
RS2105569550 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS2105805625 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS2105832223 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS2468354552 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 26, Retinitis pigmentosa
RS2468433779 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS2468582909 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS569826109 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 26, Retinitis pigmentosa
RS746128841 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Cone-rod dystrophy, Retinal dystrophy
RS748555018 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS753994107 Health Risk Pathogenic/Likely pathogenic Retinal pigment epithelial atrophy, Cone dystrophy, Retinitis pigmentosa 26
RS769632183 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa, Retinitis pigmentosa 26
RS770284500 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS776566319 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS927261937 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinal dystrophy, Retinitis pigmentosa 26
RS988540767 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
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