IMPDH1 Chromosome 7
Inosine monophosphate dehydrogenase 1
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What This Gene Does
The protein encoded by this gene acts as a homotetramer to regulate cell growth. The encoded protein is an enzyme that catalyzes the synthesis of xanthine monophosphate (XMP) from inosine-5'-monophosphate (IMP). This is the rate-limiting step in the de novo synthesis of guanine nucleotides. Defects in this gene are a cause of retinitis pigmentosa type 10 (RP10). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Gene Info
Gene Group
Inosine monophosphate dehydrogenase family
Locus Type
gene with protein product
Location
7q32.1
Ensembl
ENSG00000106348
Associated Conditions (10)
Leber congenital amaurosis 11
Retinitis pigmentosa
Retinal dystrophy
Retinitis pigmentosa 10
IMPDH1-related disorder
Familial cancer of breast
Thyroid cancer
nonmedullary
1
Inborn genetic diseases
Key Variants
RS1042250
Conflicting classifications of pathogenicity
Leber congenital amaurosis 11, Retinitis pigmentosa, Leber congenital amaurosis 11
Health Risk
RS121912553
Conflicting classifications of pathogenicity
Leber congenital amaurosis 11, Retinal dystrophy, Leber congenital amaurosis 11
Health Risk
RS1238910577
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS1272549405
Conflicting classifications of pathogenicity
Retinitis pigmentosa 10, Retinitis pigmentosa 10
Health Risk
RS138502867
Conflicting classifications of pathogenicity
IMPDH1-related disorder, IMPDH1-related disorder
Health Risk
RS139785999
Conflicting classifications of pathogenicity
Leber congenital amaurosis 11, Retinitis pigmentosa, Leber congenital amaurosis 11
Health Risk
RS139979391
Conflicting classifications of pathogenicity
Retinitis pigmentosa 10, Leber congenital amaurosis 11, Retinitis pigmentosa 10
Health Risk
RS143796089
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Leber congenital amaurosis 11, IMPDH1-related disorder
Health Risk
RS144498273
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Leber congenital amaurosis 11, Retinal dystrophy
Health Risk
RS144587211
Conflicting classifications of pathogenicity
Health Risk
RS144659635
Conflicting classifications of pathogenicity
Leber congenital amaurosis 11, Retinitis pigmentosa, IMPDH1-related disorder
Health Risk
RS1478038443
Conflicting classifications of pathogenicity
Leber congenital amaurosis 11, Retinitis pigmentosa, Leber congenital amaurosis 11
Health Risk
All Variants (76)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1042250 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 11, Retinitis pigmentosa, Leber congenital amaurosis 11 |
| RS121912553 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 11, Retinal dystrophy, Leber congenital amaurosis 11 |
| RS1238910577 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS1272549405 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 10, Retinitis pigmentosa 10 |
| RS138502867 | Health Risk | Conflicting classifications of pathogenicity | IMPDH1-related disorder, IMPDH1-related disorder |
| RS139785999 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 11, Retinitis pigmentosa, Leber congenital amaurosis 11 |
| RS139979391 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 10, Leber congenital amaurosis 11, Retinitis pigmentosa 10 |
| RS143796089 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Leber congenital amaurosis 11, IMPDH1-related disorder |
| RS144498273 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Leber congenital amaurosis 11, Retinal dystrophy |
| RS144587211 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144659635 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 11, Retinitis pigmentosa, IMPDH1-related disorder |
| RS1478038443 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 11, Retinitis pigmentosa, Leber congenital amaurosis 11 |
| RS147882304 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 11, Retinitis pigmentosa, Leber congenital amaurosis 11 |
| RS148875137 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS150531977 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 11, Retinitis pigmentosa, Retinal dystrophy |
| RS1554414710 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 10, Retinal dystrophy, Retinitis pigmentosa 10 |
| RS1562989913 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinitis pigmentosa 10, Retinal dystrophy |
| RS1584728088 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa |
| RS1798090339 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinitis pigmentosa 10, Retinal dystrophy |
| RS1798504836 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS199623010 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Leber congenital amaurosis 11, Retinitis pigmentosa |
| RS201001000 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 10, Retinal dystrophy, Retinitis pigmentosa 10 |
| RS201803921 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Leber congenital amaurosis 11, Retinitis pigmentosa |
| RS367549284 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Leber congenital amaurosis 11, Retinitis pigmentosa 10 |
| RS373353058 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Leber congenital amaurosis 11, Retinitis pigmentosa |
| RS375914533 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 11, Retinitis pigmentosa, Retinitis pigmentosa 10 |
| RS543042380 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 11, Retinitis pigmentosa, Leber congenital amaurosis 11 |
| RS547740249 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Leber congenital amaurosis 11, Retinitis pigmentosa |
| RS564132747 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS61751223 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Leber congenital amaurosis 11, Retinal dystrophy |
| RS62481098 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS72624957 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Leber congenital amaurosis 11, Retinitis pigmentosa |
| RS72624961 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 11, Retinitis pigmentosa, Retinitis pigmentosa 10 |
| RS72624967 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, IMPDH1-related disorder, Retinal dystrophy |
| RS72624974 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Leber congenital amaurosis 11, Retinitis pigmentosa |
| RS749118285 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Leber congenital amaurosis 11, Retinitis pigmentosa |
| RS749416988 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS751763023 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Inborn genetic diseases, Retinal dystrophy |
| RS756851981 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS758909916 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS763999626 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Leber congenital amaurosis 11, Retinitis pigmentosa |
| RS765746859 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 11, Leber congenital amaurosis 11 |
| RS767333304 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS768265149 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS779143637 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS780213373 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Leber congenital amaurosis 11, Retinitis pigmentosa |
| RS946898300 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 11, Retinitis pigmentosa, Leber congenital amaurosis 11 |
| RS1057518949 | Health Risk | Likely pathogenic | Retinitis pigmentosa, Leber congenital amaurosis 11, Retinitis pigmentosa |
| RS121912552 | Health Risk | Likely pathogenic | Retinitis pigmentosa 10, Retinal dystrophy, Retinitis pigmentosa 10 |
| RS1280344503 | Health Risk | Likely pathogenic | — |