DRAM2 Chromosome 1
DNA damage regulated autophagy modulator 2
Upload your DNA to see your personal genotypes for variants in DRAM2.
What This Gene Does
The protein encoded by this gene binds microtubule-associated protein 1 light chain 3 and is required for autophagy. Defects in this gene are a cause of retinal dystrophy. In addition, two microRNAs (microRNA 125b-1 and microRNA 144) can bind to the mRNA of this gene and produce the disease state. [provided by RefSeq, Mar 2017]
Associated Conditions (4)
Cone-rod dystrophy
Cone-rod dystrophy 21
Retinal dystrophy
Inborn genetic diseases
Key Variants
RS1178103200
Conflicting classifications of pathogenicity
Cone-rod dystrophy, Cone-rod dystrophy
Health Risk
RS148031211
Conflicting classifications of pathogenicity
Cone-rod dystrophy 21, Retinal dystrophy, Cone-rod dystrophy 21
Health Risk
RS74827377
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1057516195
Likely pathogenic
Cone-rod dystrophy 21, Cone-rod dystrophy 21
Health Risk
RS1292874452
Likely pathogenic
Retinal dystrophy, Retinal dystrophy
Health Risk
RS2101085885
Likely pathogenic
Cone-rod dystrophy 21, Cone-rod dystrophy 21
Health Risk
RS746500019
Likely pathogenic
Cone-rod dystrophy 21, Cone-rod dystrophy 21
Health Risk
RS771765839
Likely pathogenic
Health Risk
RS898836564
Likely pathogenic
Health Risk
RS1337698225
Pathogenic
Health Risk
RS1649431626
Pathogenic
Health Risk
RS1652081123
Pathogenic
Health Risk
All Variants (27)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1178103200 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy, Cone-rod dystrophy |
| RS148031211 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 21, Retinal dystrophy, Cone-rod dystrophy 21 |
| RS74827377 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1057516195 | Health Risk | Likely pathogenic | Cone-rod dystrophy 21, Cone-rod dystrophy 21 |
| RS1292874452 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2101085885 | Health Risk | Likely pathogenic | Cone-rod dystrophy 21, Cone-rod dystrophy 21 |
| RS746500019 | Health Risk | Likely pathogenic | Cone-rod dystrophy 21, Cone-rod dystrophy 21 |
| RS771765839 | Health Risk | Likely pathogenic | — |
| RS898836564 | Health Risk | Likely pathogenic | — |
| RS1337698225 | Health Risk | Pathogenic | — |
| RS1649431626 | Health Risk | Pathogenic | — |
| RS1652081123 | Health Risk | Pathogenic | — |
| RS201422368 | Health Risk | Pathogenic | Retinal dystrophy, Cone-rod dystrophy 21, Retinal dystrophy |
| RS2101000962 | Health Risk | Pathogenic | — |
| RS2101005282 | Health Risk | Pathogenic | — |
| RS2101086076 | Health Risk | Pathogenic | Cone-rod dystrophy 21, Cone-rod dystrophy 21 |
| RS2524698132 | Health Risk | Pathogenic | — |
| RS2524746325 | Health Risk | Pathogenic | — |
| RS376487338 | Health Risk | Pathogenic | — |
| RS746559651 | Health Risk | Pathogenic | Retinal dystrophy, Cone-rod dystrophy 21, Retinal dystrophy |
| RS763255666 | Health Risk | Pathogenic | — |
| RS771234779 | Health Risk | Pathogenic | — |
| RS786205661 | Health Risk | Pathogenic | Retinal dystrophy, Cone-rod dystrophy 21, Retinal dystrophy |
| RS786205662 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS786205663 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS786205664 | Health Risk | Pathogenic | Retinal dystrophy, Cone-rod dystrophy 21, Retinal dystrophy |
| RS786205665 | Health Risk | Pathogenic | Retinal dystrophy, Cone-rod dystrophy 21, Retinal dystrophy |