PRMT7 Chromosome 16
Protein arginine methyltransferase 7
Upload your DNA to see your personal genotypes for variants in PRMT7.
What This Gene Does
This gene encodes a member of the protein arginine N-methyltransferase family of proteins. The encoded enzyme transfers single methyl groups to arginine residues to generate monomethylarginines on histone proteins as well as other protein substrates. This enzyme plays a role in a wide range of biological processes, including neuronal differentiation, male germ line imprinting, small nuclear ribonucleoprotein biogenesis, and regulation of the Wnt signaling pathway. Mutations in this gene underlie multiple related syndromes in human patients characterized by intellectual disability, short stature and other features. The encoded protein may promote breast cancer cell invasion and metastasis in human patients. [provided by RefSeq, May 2017]
Gene Info
Gene Group
"7BS protein arginine methyltranferases|Arginine methyltransferases"
Locus Type
gene with protein product
Location
16q22.1
Ensembl
ENSG00000132600
Associated Conditions (6)
Short stature-brachydactyly-obesity-global developmental delay syndrome
PRMT7-related disorder
Inborn genetic diseases
Epileptic encephalopathy
15 conditions
Neurodevelopmental abnormality
Key Variants
RS138108105
Conflicting classifications of pathogenicity
Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome
Health Risk
RS138763605
Conflicting classifications of pathogenicity
Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome
Health Risk
RS143131470
Conflicting classifications of pathogenicity
Short stature-brachydactyly-obesity-global developmental delay syndrome, PRMT7-related disorder, Short stature-brachydactyly-obesity-global developmental delay syndrome
Health Risk
RS145433823
Conflicting classifications of pathogenicity
Health Risk
RS368511164
Conflicting classifications of pathogenicity
Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome
Health Risk
RS370795284
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS371698853
Conflicting classifications of pathogenicity
Epileptic encephalopathy, Epileptic encephalopathy
Health Risk
RS562766169
Conflicting classifications of pathogenicity
PRMT7-related disorder, PRMT7-related disorder
Health Risk
RS751670999
Conflicting classifications of pathogenicity
Short stature-brachydactyly-obesity-global developmental delay syndrome, Inborn genetic diseases, Short stature-brachydactyly-obesity-global developmental delay syndrome
Health Risk
RS753756119
Conflicting classifications of pathogenicity
Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome
Health Risk
RS772382705
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1313637057
Likely pathogenic
Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome
Health Risk
All Variants (45)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138108105 | Health Risk | Conflicting classifications of pathogenicity | Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome |
| RS138763605 | Health Risk | Conflicting classifications of pathogenicity | Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome |
| RS143131470 | Health Risk | Conflicting classifications of pathogenicity | Short stature-brachydactyly-obesity-global developmental delay syndrome, PRMT7-related disorder, Short stature-brachydactyly-obesity-global developmental delay syndrome |
| RS145433823 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368511164 | Health Risk | Conflicting classifications of pathogenicity | Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome |
| RS370795284 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS371698853 | Health Risk | Conflicting classifications of pathogenicity | Epileptic encephalopathy, Epileptic encephalopathy |
| RS562766169 | Health Risk | Conflicting classifications of pathogenicity | PRMT7-related disorder, PRMT7-related disorder |
| RS751670999 | Health Risk | Conflicting classifications of pathogenicity | Short stature-brachydactyly-obesity-global developmental delay syndrome, Inborn genetic diseases, Short stature-brachydactyly-obesity-global developmental delay syndrome |
| RS753756119 | Health Risk | Conflicting classifications of pathogenicity | Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome |
| RS772382705 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1313637057 | Health Risk | Likely pathogenic | Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome |
| RS1339009950 | Health Risk | Likely pathogenic | Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome |
| RS1390386790 | Health Risk | Likely pathogenic | — |
| RS149170494 | Health Risk | Likely pathogenic | Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome |
| RS1567739042 | Health Risk | Likely pathogenic | Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome |
| RS1597361540 | Health Risk | Likely pathogenic | Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome |
| RS2086730156 | Health Risk | Likely pathogenic | — |
| RS2151558358 | Health Risk | Likely pathogenic | Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome |
| RS2151559206 | Health Risk | Likely pathogenic | — |
| RS2151701931 | Health Risk | Likely pathogenic | Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome |
| RS2545019503 | Health Risk | Likely pathogenic | Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome |
| RS2545118734 | Health Risk | Likely pathogenic | Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome |
| RS762515973 | Health Risk | Likely pathogenic | Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome |
| RS763953657 | Health Risk | Likely pathogenic | Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome |
| RS768950720 | Health Risk | Likely pathogenic | Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome |
| RS1251713297 | Health Risk | Pathogenic | 15 conditions, Short stature-brachydactyly-obesity-global developmental delay syndrome, 15 conditions |
| RS1567690011 | Health Risk | Pathogenic | Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome |
| RS1567721991 | Health Risk | Pathogenic | Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome |
| RS2081811652 | Health Risk | Pathogenic | — |
| RS2082897416 | Health Risk | Pathogenic | Neurodevelopmental abnormality, Neurodevelopmental abnormality |
| RS2086255627 | Health Risk | Pathogenic | Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome |
| RS2151436426 | Health Risk | Pathogenic | Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome |
| RS2151732301 | Health Risk | Pathogenic | Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome |
| RS2151827144 | Health Risk | Pathogenic | Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome |
| RS2544840110 | Health Risk | Pathogenic | — |
| RS2545046414 | Health Risk | Pathogenic | Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome |
| RS2545389934 | Health Risk | Pathogenic | Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome |
| RS774937129 | Health Risk | Pathogenic | Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome |
| RS779212218 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS886039897 | Health Risk | Pathogenic | Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome |
| RS1014959895 | Health Risk | Pathogenic/Likely pathogenic | 15 conditions, Short stature-brachydactyly-obesity-global developmental delay syndrome, Inborn genetic diseases |
| RS201824659 | Health Risk | Pathogenic/Likely pathogenic | Short stature-brachydactyly-obesity-global developmental delay syndrome, Neurodevelopmental abnormality, PRMT7-related disorder |
| RS372375423 | Health Risk | Pathogenic/Likely pathogenic | Short stature-brachydactyly-obesity-global developmental delay syndrome, Inborn genetic diseases, Short stature-brachydactyly-obesity-global developmental delay syndrome |
| RS770567326 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |