SMS Chromosome X
Spermine synthase
Upload your DNA to see your personal genotypes for variants in SMS.
What This Gene Does
This gene encodes a protein belonging to the spermidine/spermin synthase family and catalyzes the production of spermine from spermidine. Pseudogenes of this gene are located on chromosomes 1, 5, 6 and X. Mutations in this gene cause an X-linked intellectual disability called Snyder-Robinson Syndrome (SRS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
7BS non-methyltransferases
Locus Type
gene with protein product
Location
Xp22.11
Ensembl
ENSG00000102172
Associated Conditions (9)
Inborn genetic diseases
Syndromic X-linked intellectual disability Snyder type
SMS-related disorder
Smith-Magenis syndrome
Thyroid cancer
nonmedullary
1
Nonpapillary renal cell carcinoma
Intellectual disability
Key Variants
RS150564614
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2147508108
Conflicting classifications of pathogenicity
Syndromic X-linked intellectual disability Snyder type, Syndromic X-linked intellectual disability Snyder type
Health Risk
RS2147513193
Conflicting classifications of pathogenicity
Syndromic X-linked intellectual disability Snyder type, Syndromic X-linked intellectual disability Snyder type
Health Risk
RS371972467
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS751460863
Conflicting classifications of pathogenicity
Syndromic X-linked intellectual disability Snyder type, Inborn genetic diseases, Syndromic X-linked intellectual disability Snyder type
Health Risk
RS760174828
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1064794901
Likely pathogenic
Health Risk
RS113689961
Likely pathogenic
SMS-related disorder, SMS-related disorder
Health Risk
RS1556001138
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1556001304
Likely pathogenic
SMS-related disorder, SMS-related disorder
Health Risk
RS1569351529
Likely pathogenic
Smith-Magenis syndrome, Smith-Magenis syndrome
Health Risk
RS1924243873
Likely pathogenic
Syndromic X-linked intellectual disability Snyder type, Syndromic X-linked intellectual disability Snyder type
Health Risk
All Variants (32)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS150564614 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2147508108 | Health Risk | Conflicting classifications of pathogenicity | Syndromic X-linked intellectual disability Snyder type, Syndromic X-linked intellectual disability Snyder type |
| RS2147513193 | Health Risk | Conflicting classifications of pathogenicity | Syndromic X-linked intellectual disability Snyder type, Syndromic X-linked intellectual disability Snyder type |
| RS371972467 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS751460863 | Health Risk | Conflicting classifications of pathogenicity | Syndromic X-linked intellectual disability Snyder type, Inborn genetic diseases, Syndromic X-linked intellectual disability Snyder type |
| RS760174828 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1064794901 | Health Risk | Likely pathogenic | — |
| RS113689961 | Health Risk | Likely pathogenic | SMS-related disorder, SMS-related disorder |
| RS1556001138 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1556001304 | Health Risk | Likely pathogenic | SMS-related disorder, SMS-related disorder |
| RS1569351529 | Health Risk | Likely pathogenic | Smith-Magenis syndrome, Smith-Magenis syndrome |
| RS1924243873 | Health Risk | Likely pathogenic | Syndromic X-linked intellectual disability Snyder type, Syndromic X-linked intellectual disability Snyder type |
| RS1924581492 | Health Risk | Likely pathogenic | Thyroid cancer, nonmedullary, 1 |
| RS1924586809 | Health Risk | Likely pathogenic | Syndromic X-linked intellectual disability Snyder type, Nonpapillary renal cell carcinoma, Syndromic X-linked intellectual disability Snyder type |
| RS1924648986 | Health Risk | Likely pathogenic | Syndromic X-linked intellectual disability Snyder type, Syndromic X-linked intellectual disability Snyder type |
| RS2146953457 | Health Risk | Likely pathogenic | Syndromic X-linked intellectual disability Snyder type, Syndromic X-linked intellectual disability Snyder type |
| RS2146954029 | Health Risk | Likely pathogenic | — |
| RS2146960379 | Health Risk | Likely pathogenic | — |
| RS2147517480 | Health Risk | Likely pathogenic | Inborn genetic diseases, Syndromic X-linked intellectual disability Snyder type, Syndromic X-linked intellectual disability Snyder type |
| RS2519671108 | Health Risk | Likely pathogenic | Syndromic X-linked intellectual disability Snyder type, Syndromic X-linked intellectual disability Snyder type |
| RS2519671168 | Health Risk | Likely pathogenic | — |
| RS397515550 | Health Risk | Likely pathogenic | Syndromic X-linked intellectual disability Snyder type, SMS-related disorder, Syndromic X-linked intellectual disability Snyder type |
| RS121434610 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability Snyder type, Inborn genetic diseases, Syndromic X-linked intellectual disability Snyder type |
| RS1602210346 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability Snyder type, Syndromic X-linked intellectual disability Snyder type |
| RS1602220706 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability Snyder type, Syndromic X-linked intellectual disability Snyder type |
| RS1924650670 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability Snyder type, Syndromic X-linked intellectual disability Snyder type |
| RS1925241775 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS267607076 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability Snyder type, Syndromic X-linked intellectual disability Snyder type |
| RS397515381 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability Snyder type, Syndromic X-linked intellectual disability Snyder type |
| RS397515551 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability Snyder type, Syndromic X-linked intellectual disability Snyder type |
| RS397515553 | Health Risk | Pathogenic | Syndromic X-linked intellectual disability Snyder type, Syndromic X-linked intellectual disability Snyder type |
| RS2519671183 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Syndromic X-linked intellectual disability Snyder type, Inborn genetic diseases |