AMPD2 Chromosome 1
Adenosine monophosphate deaminase 2
Upload your DNA to see your personal genotypes for variants in AMPD2.
What This Gene Does
The protein encoded by this gene is important in purine metabolism by converting AMP to IMP. The encoded protein, which acts as a homotetramer, is one of three AMP deaminases found in mammals. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
Gene Info
Gene Group
Adenosine deaminase family
Locus Type
gene with protein product
Location
1p13.3
Ensembl
ENSG00000116337
Associated Conditions (11)
Hereditary spastic paraplegia 63
Pontocerebellar hypoplasia type 9
Inborn genetic diseases
Familial cancer of breast
Global developmental delay
Brain malformation
Seizure
AMPD2-related disorder
Pontoneocerebellar hypoplasia
Abnormality of the nervous system
Spastic ataxia
Key Variants
RS1030974786
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9, Inborn genetic diseases
Health Risk
RS1131691574
Conflicting classifications of pathogenicity
Health Risk
RS114727970
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63
Health Risk
RS145268448
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9, Familial cancer of breast
Health Risk
RS192669225
Conflicting classifications of pathogenicity
Global developmental delay, Brain malformation, Seizure
Health Risk
RS41280332
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9, AMPD2-related disorder
Health Risk
RS746332433
Conflicting classifications of pathogenicity
Inborn genetic diseases, Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63
Health Risk
RS755344801
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 9, Pontocerebellar hypoplasia type 9
Health Risk
RS761542502
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63
Health Risk
RS764953041
Conflicting classifications of pathogenicity
Inborn genetic diseases, Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63
Health Risk
RS776868175
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9
Health Risk
RS2101154903
Likely pathogenic
Health Risk
All Variants (41)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1030974786 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9, Inborn genetic diseases |
| RS1131691574 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS114727970 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63 |
| RS145268448 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9, Familial cancer of breast |
| RS192669225 | Health Risk | Conflicting classifications of pathogenicity | Global developmental delay, Brain malformation, Seizure |
| RS41280332 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9, AMPD2-related disorder |
| RS746332433 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63 |
| RS755344801 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 9, Pontocerebellar hypoplasia type 9 |
| RS761542502 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63 |
| RS764953041 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63 |
| RS776868175 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9 |
| RS2101154903 | Health Risk | Likely pathogenic | — |
| RS2524415501 | Health Risk | Likely pathogenic | Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9 |
| RS587777395 | Health Risk | Likely pathogenic | Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63, Pontoneocerebellar hypoplasia |
| RS756745194 | Health Risk | Likely pathogenic | Pontocerebellar hypoplasia type 9, Pontocerebellar hypoplasia type 9 |
| RS774256040 | Health Risk | Likely pathogenic | Pontocerebellar hypoplasia type 9, Pontocerebellar hypoplasia type 9 |
| RS869312928 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1011286644 | Health Risk | Pathogenic | Pontocerebellar hypoplasia type 9, Pontocerebellar hypoplasia type 9 |
| RS1131691563 | Health Risk | Pathogenic | — |
| RS1329101309 | Health Risk | Pathogenic | Pontocerebellar hypoplasia type 9, Pontocerebellar hypoplasia type 9 |
| RS1553230375 | Health Risk | Pathogenic | Pontocerebellar hypoplasia type 9, Pontocerebellar hypoplasia type 9 |
| RS1650570861 | Health Risk | Pathogenic | — |
| RS1650621772 | Health Risk | Pathogenic | Pontocerebellar hypoplasia type 9, Pontocerebellar hypoplasia type 9 |
| RS2101154713 | Health Risk | Pathogenic | Pontocerebellar hypoplasia type 9, Pontocerebellar hypoplasia type 9 |
| RS2101158688 | Health Risk | Pathogenic | Abnormality of the nervous system, Abnormality of the nervous system |
| RS2101160657 | Health Risk | Pathogenic | Spastic ataxia, Spastic ataxia |
| RS2524377118 | Health Risk | Pathogenic | Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63 |
| RS2524398223 | Health Risk | Pathogenic | Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63 |
| RS587777391 | Health Risk | Pathogenic | Pontocerebellar hypoplasia type 9, Pontocerebellar hypoplasia type 9 |
| RS587777392 | Health Risk | Pathogenic | Pontocerebellar hypoplasia type 9, Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 9 |
| RS587777393 | Health Risk | Pathogenic | Pontocerebellar hypoplasia type 9, Pontocerebellar hypoplasia type 9 |
| RS587777394 | Health Risk | Pathogenic | Pontocerebellar hypoplasia type 9, Pontocerebellar hypoplasia type 9 |
| RS587777769 | Health Risk | Pathogenic | Hereditary spastic paraplegia 63, Hereditary spastic paraplegia 63 |
| RS773911916 | Health Risk | Pathogenic | Hereditary spastic paraplegia 63, Hereditary spastic paraplegia 63 |
| RS875989844 | Health Risk | Pathogenic | Pontocerebellar hypoplasia type 9, Pontocerebellar hypoplasia type 9 |
| RS1156299044 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63 |
| RS150197784 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9 |
| RS1650988132 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9, Inborn genetic diseases |
| RS753591864 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia type 9, Pontoneocerebellar hypoplasia, Hereditary spastic paraplegia 63 |
| RS760433806 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia type 9, Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 9 |
| RS775612117 | Health Risk | Pathogenic/Likely pathogenic | Pontoneocerebellar hypoplasia, Hereditary spastic paraplegia 63, Pontocerebellar hypoplasia type 9 |